Publication Information

{'id': 'https://openalex.org/W2078037721', 'doi': 'https://doi.org/10.1074/jbc.m100460200', 'title': 'Mutations in Sialidosis Impair Sialidase Binding to the Lysosomal Multienzyme Complex', 'display_name': 'Mutations in Sialidosis Impair Sialidase Binding to the Lysosomal Multienzyme Complex', 'publication_year': 2001, 'publication_date': '2001-05-01', 'ids': {'openalex': 'https://openalex.org/W2078037721', 'doi': 'https://doi.org/10.1074/jbc.m100460200', 'mag': '2078037721', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/11279074'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1074/jbc.m100460200', 'pdf_url': 'http://www.jbc.org/article/S002192581931912X/pdf', 'source': {'id': 'https://openalex.org/S140251998', 'display_name': 'Journal of Biological Chemistry', 'issn_l': '0021-9258', 'issn': ['0021-9258', '1067-8816', '1083-351X'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'hybrid', 'oa_url': 'http://www.jbc.org/article/S002192581931912X/pdf', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5066811021', 'display_name': 'Kiven Erique Lukong', 'orcid': 'https://orcid.org/0000-0001-8738-2117'}, 'institutions': [{'id': 'https://openalex.org/I2802351361', 'display_name': 'Centre Hospitalier Universitaire Sainte-Justine', 'ror': 'https://ror.org/01gv74p78', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802351361']}, {'id': 'https://openalex.org/I70931966', 'display_name': 'Université de Montréal', 'ror': 'https://ror.org/0161xgx34', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I70931966']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Kiven E. Lukong', 'raw_affiliation_strings': ['From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the'], 'affiliations': [{'raw_affiliation_string': 'From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the', 'institution_ids': ['https://openalex.org/I2802351361', 'https://openalex.org/I70931966']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5036690020', 'display_name': 'Karine Landry', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802351361', 'display_name': 'Centre Hospitalier Universitaire Sainte-Justine', 'ror': 'https://ror.org/01gv74p78', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802351361']}, {'id': 'https://openalex.org/I70931966', 'display_name': 'Université de Montréal', 'ror': 'https://ror.org/0161xgx34', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I70931966']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Karine Landry', 'raw_affiliation_strings': ['From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the'], 'affiliations': [{'raw_affiliation_string': 'From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the', 'institution_ids': ['https://openalex.org/I2802351361', 'https://openalex.org/I70931966']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5031232289', 'display_name': 'Marc‐André Elsliger', 'orcid': 'https://orcid.org/0000-0002-1989-7626'}, 'institutions': [{'id': 'https://openalex.org/I70931966', 'display_name': 'Université de Montréal', 'ror': 'https://ror.org/0161xgx34', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I70931966']}, {'id': 'https://openalex.org/I2802351361', 'display_name': 'Centre Hospitalier Universitaire Sainte-Justine', 'ror': 'https://ror.org/01gv74p78', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802351361']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Marc-André Elsliger', 'raw_affiliation_strings': ['From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the'], 'affiliations': [{'raw_affiliation_string': 'From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the', 'institution_ids': ['https://openalex.org/I70931966', 'https://openalex.org/I2802351361']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5087571877', 'display_name': 'Yuan Chang', 'orcid': 'https://orcid.org/0000-0003-1125-4041'}, 'institutions': [{'id': 'https://openalex.org/I2802351361', 'display_name': 'Centre Hospitalier Universitaire Sainte-Justine', 'ror': 'https://ror.org/01gv74p78', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802351361']}, {'id': 'https://openalex.org/I70931966', 'display_name': 'Université de Montréal', 'ror': 'https://ror.org/0161xgx34', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I70931966']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Yuan Chang', 'raw_affiliation_strings': ['From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the'], 'affiliations': [{'raw_affiliation_string': 'From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the', 'institution_ids': ['https://openalex.org/I2802351361', 'https://openalex.org/I70931966']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5072274903', 'display_name': 'Stéphane Lefrançois', 'orcid': 'https://orcid.org/0000-0002-3312-9594'}, 'institutions': [{'id': 'https://openalex.org/I5023651', 'display_name': 'McGill University', 'ror': 'https://ror.org/01pxwe438', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I5023651']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Stephane Lefrancois', 'raw_affiliation_strings': ['Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 2B2, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 2B2, Canada', 'institution_ids': ['https://openalex.org/I5023651']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5010713777', 'display_name': 'Carlos R. Morales', 'orcid': 'https://orcid.org/0000-0002-4882-870X'}, 'institutions': [{'id': 'https://openalex.org/I5023651', 'display_name': 'McGill University', 'ror': 'https://ror.org/01pxwe438', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I5023651']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Carlos R. Morales', 'raw_affiliation_strings': ['Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 2B2, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 2B2, Canada', 'institution_ids': ['https://openalex.org/I5023651']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5047910628', 'display_name': 'Alexey V. Pshezhetsky', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802351361', 'display_name': 'Centre Hospitalier Universitaire Sainte-Justine', 'ror': 'https://ror.org/01gv74p78', 'country_code': 'CA', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802351361']}, {'id': 'https://openalex.org/I70931966', 'display_name': 'Université de Montréal', 'ror': 'https://ror.org/0161xgx34', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I70931966']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Alexey V. Pshezhetsky', 'raw_affiliation_strings': ['From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the'], 'affiliations': [{'raw_affiliation_string': 'From the Service de Génétique Médicale, Hôpital Sainte-Justine and Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Québec H3T 1C5, Canada and the', 'institution_ids': ['https://openalex.org/I2802351361', 'https://openalex.org/I70931966']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 3, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2500, 'currency': 'USD', 'value_usd': 2500, 'provenance': 'doaj'}, 'apc_paid': {'value': 2500, 'currency': 'USD', 'value_usd': 2500, 'provenance': 'doaj'}, 'fwci': 2.142, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 48, 'citation_normalized_percentile': {'value': 0.895058, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 91, 'max': 92}, 'biblio': {'volume': '276', 'issue': '20', 'first_page': '17286', 'last_page': '17290'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10945', 'display_name': 'Lysosomal Storage Disorders Research', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10945', 'display_name': 'Lysosomal Storage Disorders Research', 'score': 0.9994, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T12286', 'display_name': 'Erythrocyte Function and Pathophysiology', 'score': 0.9976, 'subfield': {'id': 'https://openalex.org/subfields/2737', 'display_name': 'Physiology'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10617', 'display_name': 'Cellular transport and secretion', 'score': 0.9962, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/sialidase', 'display_name': 'Sialidase', 'score': 0.65345806}, {'id': 'https://openalex.org/keywords/mucolipidosis', 'display_name': 'Mucolipidosis', 'score': 0.45951688}, {'id': 'https://openalex.org/keywords/lysosomal-storage-disease', 'display_name': 'Lysosomal storage disease', 'score': 0.45193446}], 'concepts': [{'id': 'https://openalex.org/C73695083', 'wikidata': 'https://www.wikidata.org/wiki/Q409485', 'display_name': 'Sialidase', 'level': 4, 'score': 0.65345806}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.63853484}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.62787056}, {'id': 'https://openalex.org/C2780905385', 'wikidata': 'https://www.wikidata.org/wiki/Q1952032', 'display_name': 'Mucolipidosis', 'level': 3, 'score': 0.45951688}, {'id': 'https://openalex.org/C2778264360', 'wikidata': 'https://www.wikidata.org/wiki/Q675010', 'display_name': 'Lysosomal storage disease', 'level': 3, 'score': 0.45193446}, {'id': 'https://openalex.org/C55493867', 'wikidata': 'https://www.wikidata.org/wiki/Q7094', 'display_name': 'Biochemistry', 'level': 1, 'score': 0.39970753}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.34275264}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.31953514}, {'id': 'https://openalex.org/C134164806', 'wikidata': 'https://www.wikidata.org/wiki/Q409485', 'display_name': 'Neuraminidase', 'level': 3, 'score': 0.23414543}, {'id': 'https://openalex.org/C181199279', 'wikidata': 'https://www.wikidata.org/wiki/Q8047', 'display_name': 'Enzyme', 'level': 2, 'score': 0.14605418}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.10484657}], 'mesh': [{'descriptor_ui': 'D002268', 'descriptor_name': 'Carboxypeptidases', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D008247', 'descriptor_name': 'Lysosomes', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': True}, {'descriptor_ui': 'D009081', 'descriptor_name': 'Mucolipidoses', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009081', 'descriptor_name': 'Mucolipidoses', 'qualifier_ui': 'Q000201', 'qualifier_name': 'enzymology', 'is_major_topic': True}, {'descriptor_ui': 'D009097', 'descriptor_name': 'Multienzyme Complexes', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D009439', 'descriptor_name': 'Neuraminidase', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': True}, {'descriptor_ui': 'D009439', 'descriptor_name': 'Neuraminidase', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000595', 'descriptor_name': 'Amino Acid Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019943', 'descriptor_name': 'Amino Acid Substitution', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019556', 'descriptor_name': 'COS Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002268', 'descriptor_name': 'Carboxypeptidases', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D043402', 'descriptor_name': 'Cathepsin A', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002522', 'descriptor_name': 'Chlorocebus aethiops', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003001', 'descriptor_name': 'Cloning, Molecular', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008247', 'descriptor_name': 'Lysosomes', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008958', 'descriptor_name': 'Models, Molecular', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009081', 'descriptor_name': 'Mucolipidoses', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009097', 'descriptor_name': 'Multienzyme Complexes', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016297', 'descriptor_name': 'Mutagenesis, Site-Directed', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009439', 'descriptor_name': 'Neuraminidase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009439', 'descriptor_name': 'Neuraminidase', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D011487', 'descriptor_name': 'Protein Conformation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017433', 'descriptor_name': 'Protein Structure, Secondary', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011994', 'descriptor_name': 'Recombinant Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011994', 'descriptor_name': 'Recombinant Proteins', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}, {'descriptor_ui': 'D011994', 'descriptor_name': 'Recombinant Proteins', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D001616', 'descriptor_name': 'beta-Galactosidase', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001616', 'descriptor_name': 'beta-Galactosidase', 'qualifier_ui': 'Q000378', 'qualifier_name': 'metabolism', 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1074/jbc.m100460200', 'pdf_url': 'http://www.jbc.org/article/S002192581931912X/pdf', 'source': {'id': 'https://openalex.org/S140251998', 'display_name': 'Journal of Biological Chemistry', 'issn_l': '0021-9258', 'issn': ['0021-9258', '1067-8816', '1083-351X'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/11279074', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1074/jbc.m100460200', 'pdf_url': 'http://www.jbc.org/article/S002192581931912X/pdf', 'source': {'id': 'https://openalex.org/S140251998', 'display_name': 'Journal of Biological Chemistry', 'issn_l': '0021-9258', 'issn': ['0021-9258', '1067-8816', '1083-351X'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.59}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 40, 'referenced_works': ['https://openalex.org/W1483242733', 'https://openalex.org/W1487310823', 'https://openalex.org/W1495814740', 'https://openalex.org/W1579097915', 'https://openalex.org/W1624368848', 'https://openalex.org/W1784292360', 'https://openalex.org/W1965806187', 'https://openalex.org/W1984896775', 'https://openalex.org/W1984983243', 'https://openalex.org/W1988361400', 'https://openalex.org/W1994644330', 'https://openalex.org/W1998707947', 'https://openalex.org/W2006443434', 'https://openalex.org/W2009734585', 'https://openalex.org/W2018015083', 'https://openalex.org/W2021292255', 'https://openalex.org/W2025741568', 'https://openalex.org/W2039859129', 'https://openalex.org/W2042740118', 'https://openalex.org/W2053391320', 'https://openalex.org/W2065323619', 'https://openalex.org/W2071138716', 'https://openalex.org/W2072665432', 'https://openalex.org/W2075493559', 'https://openalex.org/W2083589818', 'https://openalex.org/W2086258829', 'https://openalex.org/W2100272074', 'https://openalex.org/W2100837269', 'https://openalex.org/W2124325580', 'https://openalex.org/W2128635872', 'https://openalex.org/W2133774695', 'https://openalex.org/W2135574550', 'https://openalex.org/W2139717812', 'https://openalex.org/W2143919765', 'https://openalex.org/W2147082970', 'https://openalex.org/W2148235564', 'https://openalex.org/W2168057450', 'https://openalex.org/W2995947062', 'https://openalex.org/W4293247451', 'https://openalex.org/W58037520'], 'related_works': ['https://openalex.org/W65721024', 'https://openalex.org/W2807434747', 'https://openalex.org/W2727574667', 'https://openalex.org/W2618431725', 'https://openalex.org/W2427662582', 'https://openalex.org/W2418900568', 'https://openalex.org/W2033420927', 'https://openalex.org/W2030656799', 'https://openalex.org/W2026622297', 'https://openalex.org/W1992324409'], 'abstract_inverted_index': {'Sialidosis': [0, 189, 383, 515, 642], 'is': [1, 22, 190, 211, 393, 471, 521, 648, 653, 745, 975, 2307, 3412, 3688, 3733, 3741, 4248, 4278, 4536, 4553, 4639, 4657, 4684, 5305], 'an': [2, 191, 394, 3010, 3101, 4574], 'autosomal': [3, 192, 395, 1295], 'recessive': [4, 193, 396, 1296], 'disease': [5, 21, 194, 210, 397, 470, 740, 1297], 'caused': [6, 119, 195, 308, 398], 'by': [7, 162, 196, 351, 399, 473, 527, 960, 2006, 2104, 2125, 2606, 2667, 2700, 2768, 2783, 2831, 2985, 3059, 3302, 3313, 3392, 3862, 3896, 4019, 4140, 4992, 5018, 5205, 5220], 'the': [8, 16, 53, 56, 72, 82, 103, 107, 110, 115, 125, 146, 152, 185, 197, 205, 242, 245, 261, 271, 292, 296, 299, 304, 314, 335, 341, 374, 400, 649, 739, 827, 832, 839, 913, 936, 946, 951, 967, 1065, 1073, 1120, 1294, 1353, 1357, 1442, 1691, 1700, 1704, 1708, 1754, 1763, 1767, 1777, 1780, 1799, 1813, 1823, 1869, 1872, 1885, 1892, 1901, 1911, 1916, 1931, 1934, 1949, 1974, 1989, 1994, 2023, 2030, 2040, 2069, 2081, 2094, 2100, 2116, 2190, 2208, 2310, 2339, 2343, 2346, 2349, 2365, 2426, 2451, 2486, 2490, 2492, 2559, 2581, 2594, 2620, 2636, 2665, 2668, 2780, 2784, 2972, 2975, 3003, 3005, 3015, 3050, 3112, 3157, 3269, 3303, 3307, 3317, 3323, 3363, 3369, 3374, 3387, 3396, 3415, 3424, 3453, 3462, 3521, 3543, 3547, 3592, 3596, 3605, 3610, 3634, 3648, 3654, 3685, 3692, 3706, 3710, 3715, 3718, 3730, 3744, 3760, 3837, 3842, 3848, 3924, 3944, 4000, 4013, 4020, 4025, 4030, 4048, 4064, 4068, 4076, 4090, 4110, 4118, 4126, 4149, 4155, 4165, 4179, 4188, 4194, 4205, 4212, 4236, 4251, 4256, 4259, 4266, 4274, 4299, 4473, 4477, 4509, 4533, 4545, 4561, 4567, 4577, 4593, 4601, 4625, 4633, 4636, 4649, 4654, 4663, 4675, 4853, 4865, 4869, 4887, 4899, 4902, 4909, 4923, 4926, 4945, 4957, 4961, 4988, 5001, 5057, 5081, 5098, 5166, 5209, 5228, 5261, 5274, 5282, 5289, 5296, 5335], 'genetic': [9, 198, 401, 843, 1301], 'deficiency': [10, 176, 199, 365, 402, 908, 1359, 1923], 'of': [11, 18, 55, 88, 109, 124, 154, 159, 166, 184, 200, 207, 244, 277, 298, 313, 343, 348, 355, 373, 403, 419, 479, 491, 509, 513, 738, 822, 826, 834, 841, 852, 909, 915, 939, 955, 966, 978, 1068, 1075, 1091, 1208, 1303, 1352, 1360, 1371, 1432, 1452, 1618, 1693, 1703, 1750, 1766, 1772, 1779, 1807, 1822, 1871, 1933, 2033, 2042, 2078, 2086, 2304, 2312, 2315, 2345, 2367, 2425, 2433, 2511, 2564, 2578, 2587, 2641, 2657, 2670, 2673, 2708, 2917, 2928, 2974, 2978, 3002, 3040, 3052, 3093, 3107, 3159, 3262, 3271, 3294, 3306, 3325, 3377, 3386, 3399, 3417, 3461, 3474, 3480, 3490, 3494, 3504, 3526, 3546, 3554, 3595, 3657, 3697, 3717, 3746, 3749, 3807, 3821, 3844, 3901, 3918, 3926, 3931, 3940, 3947, 3972, 3987, 4002, 4007, 4024, 4032, 4070, 4092, 4117, 4133, 4148, 4170, 4182, 4220, 4253, 4262, 4276, 4298, 4306, 4472, 4487, 4518, 4600, 4627, 4635, 4651, 4665, 4674, 4846, 4868, 4886, 4901, 4922, 4960, 4978, 5000, 5008, 5059, 5065, 5083, 5090, 5100, 5170, 5213, 5230, 5248, 5276, 5284, 5291, 5334], 'lysosomal': [12, 140, 148, 186, 201, 329, 337, 375, 404, 910, 984, 1917, 1935, 2869, 3606, 3661, 3988, 4014, 4077, 5313], 'sialidase,': [13, 202, 405, 1697, 2348, 2794, 3041, 3430], 'which': [14, 68, 99, 203, 257, 288, 652, 3411, 4059, 4247, 4288, 4590, 4847], 'catalyzes': [15, 204], 'catabolism': [17, 206], 'sialoglycoconjugates.': [19, 208], 'The': [20, 209, 414, 469, 486, 820, 847, 1365, 2120, 2269, 2444, 2544, 2648, 2660, 2696, 2731, 2743, 2967, 3091, 3104, 3152, 3260, 3275, 3287, 3292, 3381, 3437, 3478, 3524, 3671, 3805, 3854, 3916, 3974, 4005, 4131, 4470, 4550, 4659, 5087], 'associated': [23, 212, 655, 746, 1883, 4046, 4124], 'with': [24, 37, 139, 213, 226, 328, 506, 656, 747, 831, 1078, 1884, 1915, 2014, 2107, 2139, 2189, 2275, 2335, 2374, 2391, 2430, 2456, 2477, 2500, 2571, 2619, 2635, 2654, 2736, 2790, 2802, 2815, 2820, 2833, 2839, 2843, 2860, 2907, 3137, 3249, 3268, 3281, 3407, 3542, 3618, 3630, 3638, 3660, 3709, 3743, 3904, 3923, 3980, 4012, 4036, 4047, 4095, 4115, 4125, 4158, 4193, 4211, 4244, 4250, 4503, 4508, 4515, 4522, 4525, 4529, 5012, 5076, 5233, 5250, 5266], 'progressive': [25, 214, 532], 'impaired': [26, 215, 533], 'vision,': [27, 216, 534], 'macular': [28, 217, 529], 'cherry-red': [29, 218, 389, 530], 'spots,': [30, 219, 531], 'and': [31, 46, 66, 76, 85, 97, 118, 172, 220, 235, 255, 265, 274, 286, 307, 361, 388, 416, 476, 482, 488, 500, 511, 535, 665, 744, 749, 824, 849, 953, 964, 1124, 1198, 1206, 1355, 1362, 1368, 1429, 1449, 1610, 1706, 1809, 1878, 1887, 1920, 1962, 1985, 1993, 2011, 2052, 2068, 2089, 2113, 2141, 2198, 2277, 2361, 2402, 2413, 2435, 2450, 2461, 2478, 2537, 2548, 2593, 2644, 2691, 2705, 2766, 2818, 2841, 2848, 2865, 2901, 2930, 2959, 3043, 3055, 3126, 3132, 3209, 3383, 3433, 3468, 3482, 3488, 3492, 3496, 3502, 3512, 3551, 3628, 3641, 3677, 3699, 3712, 3757, 3767, 3826, 3865, 3910, 3950, 3981, 3990, 4039, 4067, 4135, 4162, 4178, 4232, 4286, 4294, 4312, 4520, 4527, 4597, 4638, 4677, 4702, 4773, 4803, 4805, 4860, 4862, 4875, 4880, 4884, 4897, 4920, 4938, 4950, 5015, 5062, 5199, 5236, 5279], 'myoclonus': [32, 221, 391, 536], '(sialidosis': [33, 48, 222, 237], 'type': [34, 49, 74, 78, 223, 238, 263, 267, 516, 520, 643, 647, 4681], 'I)': [35, 224], 'or': [36, 225, 518, 645, 1759, 1795, 2110, 2133, 2376, 2792, 2909, 3402, 3667, 3906, 4098, 4315, 4500, 4670, 4972, 4984, 5309], 'skeletal': [38, 227, 657], 'dysplasia,': [39, 228, 658], 'Hurler-like': [40, 229, 659], 'phenotype,': [41, 230, 660], 'dysostosis': [42, 231, 661], 'multiplex,': [43, 232, 662], 'mental': [44, 233, 663], 'retardation,': [45, 234, 664], 'hepatosplenomegaly': [47, 236, 666], 'II).': [50, 239], 'We': [51, 90, 128, 240, 279, 317, 4840, 4890, 5315, 5325], 'analyzed': [52, 241, 2767], 'effect': [54, 243, 1692, 3293, 4575], 'missense': [57, 246, 1612, 4474], 'mutations': [58, 247, 1453, 1613, 1695, 1751, 1791, 1824, 1906, 2096, 3296, 3364, 4277, 4475, 4586, 4629, 4652, 4666, 4698, 4914], 'G68V,': [59, 248, 3465, 3672], 'S182G,': [60, 249, 3673, 4873], 'G227R,': [61, 250, 3466, 4159, 4699], 'F260Y,': [62, 95, 251, 284, 3510, 3674, 3948, 4160, 4230, 4700, 4858, 4948, 5013, 5197, 5234, 5277], 'L270F,': [63, 96, 252, 285, 3675, 3824, 3949, 4161, 4231, 4701, 4859, 4949, 5014, 5198, 5235, 5278], 'A298V,': [64, 98, 253, 287, 3467, 3511, 3676, 3825], 'G328S,': [65, 254, 4874], 'L363P,': [67, 256, 3469], 'are': [69, 100, 258, 289, 3440, 3996, 5202], 'identified': [70, 259, 1458, 1709], 'in': [71, 102, 136, 145, 177, 260, 291, 325, 334, 366, 410, 1350, 1374, 1378, 1454, 1614, 1762, 1783, 1798, 1812, 1820, 1865, 1891, 1910, 1924, 1973, 2130, 2187, 2204, 2385, 2400, 2422, 2466, 2489, 2508, 2747, 2756, 2823, 2898, 2914, 2992, 3096, 3144, 3316, 3442, 3530, 3558, 3584, 3600, 3705, 3727, 3736, 3759, 3811, 3833, 3847, 3999, 4089, 4109, 4154, 4187, 4226, 4265, 4269, 4283, 4490, 4492, 4581, 4587, 4644, 4668, 4688, 4690, 4852, 4864, 4877, 4893, 4925, 4956, 4981, 4987, 5072, 5080, 5097, 5174, 5182, 5189, 5223, 5227, 5273, 5295], 'sialidosis': [73, 77, 179, 262, 266, 368, 903, 1379, 1455, 1616, 1925, 4270, 4300, 4680], 'I': [75, 264, 387, 517], 'II': [79, 268, 644, 4682], 'patients,': [80, 269, 4589], 'on': [81, 106, 270, 295, 1072, 1696, 1776, 1868, 2496, 2771, 2881, 2971, 3297, 4476, 4538, 4576, 4632, 4653], 'activity,': [83, 272, 837, 3451, 4883], 'stability,': [84, 273], 'intracellular': [86, 275, 3593], 'distribution': [87, 276, 3594, 4132, 4650], 'sialidase.': [89, 278, 3523, 4004], 'found': [91, 280, 1607, 1761, 4186, 4891], 'that': [92, 130, 174, 281, 319, 363, 973, 1084, 1789, 1855, 1859, 1900, 1921, 3493, 3509, 3684, 3726, 3752, 3819, 3957, 3994, 4050, 4116, 4147, 4190, 4204, 4273, 4282, 4484, 4543, 4566, 4661, 4892, 4912, 4944, 4999, 5104, 5187, 5196, 5256], 'three': [93, 282, 1856, 2652], 'mutations,': [94, 283, 5281], 'clustered': [101, 290, 1864], 'same': [104, 293, 2427, 3016, 3454, 3975, 5088, 5210], 'region': [105, 132, 294, 321, 1867, 1903, 4660, 4696], 'surface': [108, 297, 1778, 1870, 1902, 4634, 4656, 4855, 4958], 'sialidase': [111, 137, 155, 175, 300, 326, 344, 364, 836, 911, 956, 974, 1069, 1123, 1363, 1446, 1768, 1808, 1857, 1873, 1912, 1922, 1960, 2071, 2197, 2368, 2378, 2911, 3054, 3264, 3295, 3326, 3379, 3404, 3418, 3476, 3555, 3597, 3650, 3750, 3808, 3815, 3845, 3908, 3935, 3963, 4008, 4038, 4043, 4096, 4105, 4134, 4171, 4176, 4183, 4221, 4237, 4254, 4267, 4478, 4628, 4655, 4843, 4870, 4932, 4946, 4974, 4979, 5066, 5078, 5091, 5172, 5249, 5257, 5285, 5308], 'molecule,': [112, 301, 1769], 'dramatically': [113, 302, 5167], 'reduced': [114, 303, 3937, 4241, 5168], 'enzyme': [116, 305, 1093, 1705, 2017, 2305, 3298, 4150, 4207, 4594, 4637, 4676], 'activity': [117, 306, 1067, 2272, 2306, 3092, 3479, 3529, 3809, 4044, 4106, 4122, 4184, 4238, 5286], 'a': [120, 309, 522, 907, 976, 979, 1299, 1369, 1450, 1943, 1963, 1969, 2000, 2048, 2063, 2431, 2575, 2624, 2674, 2772, 2882, 2986, 2993, 3029, 3149, 3585, 3984, 4217, 4539, 5101, 5243], 'rapid': [121, 310, 1127], 'intralysosomal': [122, 311], 'degradation': [123, 312, 3945, 3976, 4001, 5092], 'expressed': [126, 315, 2347, 3463, 3557, 3599, 4841, 4931, 5173, 5219], 'protein.': [127, 316, 4889], 'suggested': [129, 318, 3753, 4483], 'this': [131, 170, 320, 359, 940, 1092, 1851, 3728, 4558, 4695, 5190, 5303], 'might': [133, 322], 'be': [134, 323, 1201, 1908, 1928], 'involved': [135, 324, 1774, 1909, 3998], 'binding': [138, 327, 1913], 'cathepsin': [141, 330, 988, 1079, 1085, 1304, 1826, 2270, 3044, 3056, 3409, 3431, 3449, 4040, 4065, 4136, 4284, 4584, 5085, 5107, 5206, 5216, 5251], 'A': [142, 331, 735, 989, 1086, 1305, 1827, 2271, 3045, 3057, 3450, 4066, 4083, 4137, 4285, 4585, 5108, 5217], 'and/or': [143, 332], 'β-galactosidase': [144, 333, 1125, 1361, 4072], 'multienzyme': [147, 187, 336, 376, 980, 1918, 1936, 4015, 4078, 4213], 'complex': [149, 338, 981, 1121, 1354, 1886, 1919, 4016, 4079, 5247], 'required': [150, 339], 'for': [151, 340, 945, 1203, 1445, 1986, 2357, 2397, 2419, 2505, 2554, 2568, 2599, 2608, 2629, 2702, 2753, 2799, 2825, 2964, 3009, 3038, 3049, 3322, 3414, 3429, 3457, 3615, 3764, 3912, 3958, 4229, 5307, 5331], 'expression': [153, 158, 342, 347, 1953, 2143, 3305, 3324, 3416, 3438], 'activity.': [156, 345, 2369, 3419, 3477, 4151, 4975], 'Transgenic': [157, 346], 'mutants': [160, 349, 1858, 3484, 3498, 3514, 3556, 3598, 3679, 3751, 3816, 3846, 3952, 4009, 4933, 4947, 4980, 5017, 5201, 5238], 'followed': [161, 350, 2605, 4146], 'density': [163, 352, 2976, 4021, 5262], 'gradient': [164, 353, 2977, 4022, 5263], 'centrifugation': [165, 354, 2607, 3006, 5264], 'cellular': [167, 356, 2205, 2350, 3531, 3723, 3834, 4982], 'extracts': [168, 357, 4027, 4031, 4091, 5229], 'confirmed': [169, 358], 'hypothesis': [171, 360], 'showed': [173, 362, 3508, 3680], 'some': [178, 367, 3820], 'patients': [180, 369, 1456, 1617, 1926, 4271, 4301], 'results': [181, 370, 1349, 1895, 3439, 3745, 3806], 'from': [182, 371, 912, 2039, 2099, 2584, 2638, 2664, 3148, 3899, 4258, 4281, 5288], 'disruption': [183, 372, 1351, 1932, 5290], 'complex.': [188, 377, 1937, 4214, 4260], 'bovine': [378], 'serum': [379, 2476, 2573], 'albumin': [380], 'phosphate-buffered': [381], 'saline': [382], '(also': [384], 'called': [385, 407], 'mucolipidosis': [386], 'spot': [390], 'syndrome)': [392], 'also': [406, 654, 1200, 3516, 3703, 4060, 4572, 5095, 5164, 5326], 'neuraminidase': [408], '(reviewed': [409], 'Refs.': [411], '1Thomas': [412], 'G.H.': [413, 485, 755, 846], 'Metabolic': [415, 487, 848, 1428, 5135], 'Molecular': [417, 489, 850, 1430], 'Bases': [418, 490, 851, 1431], 'Inherited': [420, 492, 853, 1433], 'Disease.': [421, 493, 854, 1434], '3.': [422, 494, 855, 1435], 'McGraw-Hill,': [423, 495, 856, 1436], 'New': [424, 496, 857, 1437, 3290], 'York2001:': [425, 497, 858, 1438], '3507-3534Google': [426, 498, 859], 'Scholar,': [427, 452, 559, 583, 604, 615, 680, 696, 716, 774, 794, 860, 885, 1019, 1043, 1153, 1179, 1228, 1252, 1272, 1330, 1405, 1419, 1480, 1512, 1540, 1567, 1653, 2228, 2248, 4343, 4375, 4402, 4735], '2Federico': [428, 861], 'A.': [429, 617, 619, 862, 996, 998, 1011, 1027, 1101, 1130, 1132, 1145, 1214, 1218, 1240, 1280, 1307, 1309, 1322, 1381, 1383, 1421, 1464, 1470, 1548, 1556, 1581, 1667, 1726, 1835, 1842, 2158, 3229, 3783, 4327, 4333, 4383, 4391, 4416, 4610, 4617, 4749, 4782, 4790, 5034, 5086, 5252], 'Battistini': [430, 863], 'S.': [431, 543, 587, 706, 864, 1010, 1144, 1258, 1276, 1321, 1488, 1490, 1589, 1629, 1631, 1675, 1734, 1841, 2166, 2217, 3170, 3228, 3334, 3336, 3791, 4351, 4353, 4424, 4452, 4616, 4711, 4713, 4757, 4822, 5042], 'Ciacci': [432, 865], 'G.': [433, 625, 684, 866, 1389, 1423, 1468, 1577, 1663, 1722, 1829, 2154, 3222, 3779, 4331, 4412, 4604, 4745, 5030], 'de': [434, 867], 'Stefano': [435, 868], 'N.': [436, 700, 759, 869, 1236], 'Gatti': [437, 540, 870], 'R.': [438, 541, 589, 804, 871, 1234, 1260, 1498, 1552, 1639, 3344, 4361, 4387, 4721, 4786], 'Durand': [439, 872], 'P.': [440, 539, 724, 873, 1425], 'Guazzi': [441, 626, 874, 1390], 'G.C.': [442, 627, 875, 1391], 'Dev.': [443, 876, 1472, 4335], 'Neurosci.-Basel.': [444, 877], '1991;': [445, 878], '13:': [446, 462, 879, 895], '320-326Crossref': [447, 880], 'PubMed': [448, 464, 579, 600, 637, 692, 712, 730, 770, 815, 881, 897, 931, 1015, 1041, 1059, 1115, 1149, 1175, 1195, 1224, 1250, 1268, 1288, 1326, 1346, 1401, 1476, 1508, 1536, 1563, 1598, 1649, 1684, 1743, 2175, 2224, 2244, 2264, 2297, 2330, 2726, 2954, 3086, 3176, 3199, 3233, 3354, 3800, 3889, 4339, 4371, 4398, 4433, 4465, 4731, 4766, 4797, 4835, 5051, 5130, 5159], 'Scopus': [449, 465, 580, 601, 612, 638, 693, 713, 731, 771, 816, 882, 898, 932, 1016, 1060, 1150, 1176, 1225, 1269, 1289, 1327, 1402, 1477, 1509, 1537, 1564, 1599, 1650, 1685, 1744, 1846, 2176, 2225, 2245, 2265, 2298, 2331, 2727, 2955, 3087, 3177, 3200, 3234, 3355, 3801, 3890, 4340, 4372, 4399, 4434, 4466, 4621, 4732, 4767, 4798, 4836, 5052, 5131, 5160], '(29)': [450, 466, 883, 899], 'Google': [451, 467, 558, 582, 603, 614, 640, 679, 695, 715, 733, 773, 818, 884, 900, 934, 1018, 1042, 1062, 1116, 1152, 1178, 1196, 1227, 1251, 1271, 1291, 1329, 1347, 1404, 1418, 1479, 1511, 1539, 1566, 1601, 1652, 1687, 1746, 1848, 2178, 2227, 2247, 2267, 2300, 2333, 2729, 2957, 3089, 3179, 3202, 3236, 3357, 3803, 3892, 4342, 4374, 4401, 4436, 4468, 4623, 4734, 4769, 4800, 4838, 5054, 5133, 5162], '3Cantz': [453, 886], 'M.': [454, 547, 722, 796, 887, 919, 1047, 1163, 1167, 1256, 1466, 1502, 1522, 1546, 1643, 2230, 2234, 2291, 2942, 3074, 3078, 3348, 3877, 3881, 4329, 4365, 4381, 4442, 4725, 4780, 4812, 5118, 5122, 5147, 5151], 'Ulrich-Bott': [455, 888], 'B.': [456, 565, 889, 1583, 1669, 1728, 2160, 3785, 4418, 4751, 5036], 'J.': [457, 592, 628, 673, 686, 761, 762, 786, 808, 890, 921, 923, 1032, 1048, 1106, 1171, 1186, 1220, 1241, 1264, 1282, 1284, 1337, 1392, 1412, 1494, 1525, 1635, 2943, 3082, 3172, 3340, 3885, 4357, 4459, 4717, 4829, 5126, 5155], 'Inherit.': [458, 891], 'Metab.': [459, 892], 'Dis.': [460, 893], '1990;': [461, 894], '523-537Crossref': [463, 896], 'Scholar).': [468, 641, 734, 819, 901, 1063, 1117, 1292, 1440, 1602, 1688, 1747, 1849, 2268, 2301, 2730, 3090, 3358, 3804, 4469, 4839, 5134], 'characterized': [472, 526, 944], 'tissue': [474, 962], 'accumulation': [475], 'urinary': [477], 'excretion': [478], 'sialylated': [480], 'oligosaccharides': [481], 'glycoproteins': [483], '(1Thomas': [484, 845], 'Scholar)': [499, 1197, 1348, 2179, 2334, 2958, 3893, 5055, 5163], 'includes': [501], 'two': [502, 948, 1608, 4894], 'main': [503], 'clinical': [504, 828, 1366], 'variants': [505], 'different': [507, 4280], 'ages': [508], 'onset': [510, 823], 'degrees': [512], 'severity.': [514], 'nondysmorphic': [519], 'late-onset': [523], 'mild': [524], 'form,': [525, 651], 'bilateral': [528], 'syndrome': [537], '(4Durand': [538], 'Cavalieri': [542], 'Borrone': [544], 'C.': [545, 551, 1484, 1575, 1625, 1661, 1720, 2152, 3330, 3777, 4347, 4410, 4707, 4743, 5028], 'Tondeur': [546], 'Michalski': [548, 622, 1386], 'J.C.': [549, 623, 1387], 'Strecker': [550, 624, 1388], 'Helv.': [552], 'Paediatr.': [553], 'Acta.': [554], '1977;': [555, 689, 928], '32:': [556], '391-400PubMed': [557], '5Sogg': [560], 'R.L.': [561], 'Steinman': [562], 'L.': [563, 1157, 1486, 1500, 1627, 1641, 2232, 2236, 3068, 3332, 3346, 3871, 4349, 4363, 4709, 4723, 5112, 5141], 'Rathjen': [564], 'Tharp': [566], 'B.R.': [567], "O'Brien": [568, 593, 2218], 'J.S.': [569, 594, 606, 2219], 'Kenyon': [570], 'K.R.': [571], 'Ophthalmology.': [572], '1979;': [573, 609, 2241, 2258], '86:': [574], '1861-1874Abstract': [575], 'Full': [576, 634, 767, 1038, 1054, 1056, 1112, 1192, 1247, 1343, 1398, 1531, 1533, 2261, 2949, 2951], 'Text': [577, 635, 768, 1039, 1055, 1057, 1113, 1193, 1248, 1344, 1399, 1532, 1534, 2262, 2950, 2952], 'PDF': [578, 636, 769, 1040, 1058, 1114, 1194, 1249, 1345, 1400, 1535, 2263, 2953], '(12)': [581], '6Rapin': [584], 'I.': [585, 702, 704], 'Goldfischer': [586], 'Katzman': [588], 'Engel': [590], 'Jr.,': [591], 'Ann.': [595], 'Neurol.': [596, 629, 1393], '1978;': [597], '3:': [598], '234-242Crossref': [599], '(101)': [602], "7O'Brien": [605], 'Clin.': [607, 674, 725, 1413], 'Genet.': [608, 688, 708, 726, 788, 1504, 1559, 1594, 1645, 1680, 1739, 2171, 3350, 3796, 4367, 4394, 4429, 4461, 4727, 4762, 4793, 4831, 5047], '14:': [610], '55-60Crossref': [611], '(42)': [613], '8Federico': [616], 'Cecio': [618, 1382], 'Battini': [620, 1384], 'G.A.': [621, 1385], 'Sci.': [630, 1008, 1142, 1319, 1394, 1839, 3226, 4614], '1980;': [631, 727, 764, 789, 1395], '48:': [632, 1396], '157-169Abstract': [633, 1397], '(24)': [639, 1403], 'dysmorphic': [646], 'infantile-onset': [650], '(9Till': [667], 'J.S': [668, 1407], 'Roach': [669, 1408], 'E.S.': [670, 1409], 'Burton': [671, 1410], 'B.K.': [672, 1411], 'Neuro-Ophthal.': [675, 1414], '1987;': [676, 1415], '7:': [677, 1416], '40-44PubMed': [678, 1417], '10Kelly': [681], 'T.E.': [682], 'Graetz': [683], 'Am.': [685, 785], 'Med.': [687], '1:': [690], '31-46Crossref': [691], '(75)': [694], '11Oohira': [697], 'T.': [698, 1585, 1671, 1730, 2162, 3787, 4420, 4450, 4753, 4820, 5038], 'Nagata': [699], 'Akaboshi': [701], 'Matsuda': [703], 'Naito': [705], 'Hum.': [707, 787, 1557, 1592, 1678, 1737, 2169, 3794, 4392, 4427, 4460, 4760, 4791, 4830, 5045], '1985;': [709], '70:': [710], '341-343Crossref': [711], '(31)': [714], '12Winter': [717], 'R.M.': [718, 1254], 'Swallow': [719], 'D.M.': [720], 'Baraitser': [721], 'Purkiss': [723], '18:': [728], '203-210Crossref': [729], '(21)': [732], 'severe': [736, 4679], 'form': [737, 4169], 'manifests': [741], 'itself': [742], 'prenatally': [743], 'ascites': [748], 'hydrops': [750], 'fetalis': [751], '(13Aylsworth': [752], 'A.S.': [753], 'Thomas': [754, 1576, 1662, 1721, 2153, 3778, 4411, 4744, 5029], 'Hood': [756], 'J.L.': [757], 'Malouf': [758], 'Libert': [760], 'Pediatr.': [763, 811], '96:': [765], '662-668Abstract': [766], '(56)': [772], '14Johnson': [775], 'W.G.': [776, 3192, 3218], 'Cohen': [777], 'C.S.': [778], 'Miranda': [779], 'A.F.': [780], 'Waran': [781], 'S.P.': [782], 'Chutorian': [783], 'A.M.': [784], '32': [790], '(.': [791], 'A):': [792], '43Google': [793], '15Beck': [795], 'Bender': [797], 'S.W.': [798], 'Reiter': [799], 'H.L.': [800], 'Otto': [801], 'W.': [802, 1278, 1579, 1665, 1724, 2156, 3781, 4414, 4747, 5032], 'Bassler': [803], 'Dancygier': [805], 'H.': [806, 1004, 1029, 1103, 1138, 1185, 1230, 1315, 1336, 1427, 4446, 4458, 4816, 4828], 'Gehler': [807, 920], 'Eur.': [809], 'J': [810], '1984;': [812], '143:': [813], '135-139Crossref': [814], '(55)': [817, 1177, 3088, 3891, 5132, 5161], 'age': [821], 'severity': [825], 'manifestations': [829], 'correlate': [830], 'amount': [833, 4219, 5212], 'residual': [835], 'suggesting': [838, 3452, 3683, 3725, 3993, 4203, 4911], 'existence': [840], 'considerable': [842], 'heterogeneity': [844], 'Although': [902, 3694, 4101], 'was': [904, 942, 1082, 1447, 1457, 1787, 1818, 1940, 2026, 2045, 2073, 2273, 2352, 2447, 2546, 2566, 2591, 2597, 2650, 3007, 3023, 3036, 3098, 3154, 3265, 3277, 3300, 3405, 3485, 3499, 3536, 3702, 3936, 3953, 3978, 4017, 4045, 4087, 4107, 4123, 4172, 4224, 4239, 4905, 4995, 5094, 5218], 'recognized': [905], 'as': [906, 987, 1817, 2214, 2309, 2338, 2646, 2937, 3046, 3048, 3062, 3100, 3243, 3540, 4113, 4242, 4990], 'moment': [914], 'its': [916, 1076, 1810], 'discovery': [917], '(16Cantz': [918], 'Spranger': [922], 'Biochem.': [924, 1170, 1263, 1283, 2240, 2293, 2326, 3081, 3884, 5125, 5154], 'Biophys.': [925], 'Res.': [926], 'Commun.': [927], '74:': [929], '732-738Crossref': [930], '(116)': [933], 'Scholar),': [935, 4624, 4770, 4801], 'molecular': [937, 2732, 3105, 4128, 4167, 4196, 4263, 5245, 5268], 'mechanism': [938, 5304], 'disorder': [941], 'not': [943, 1882, 3566, 3569, 3571, 3574, 3577, 3580, 3997, 4173, 4209, 4313, 4640, 4906, 5203, 5241], 'following': [947], 'decades': [949], 'because': [950], 'identification': [952], 'sequencing': [954, 3393], 'had': [957, 3447, 3470, 3829, 4308, 4969], 'been': [958], 'hampered': [959], 'low': [961, 3472, 4195, 4971, 5267], 'content': [963], 'instability': [965], 'enzyme.': [968, 1781, 3839, 5003], 'Several': [969], 'works': [970], 'have': [971, 1606, 1860, 3652, 3817, 4573, 4964], 'shown': [972, 3441, 3818], 'part': [977], 'containing': [982, 1904, 2093, 2471, 2515, 2676, 2925, 3146, 3362, 4544, 4563, 4952], 'other': [983, 4866, 4930, 5312], 'enzymes': [985, 2112], 'such': [986], '(protective': [990], 'protein),': [991], 'β-galactosidase,': [992, 3042, 4287], 'andN-acetylgalactosamine-6-sulfate': [993], 'sulfatase': [994], "(17d'Azzo": [995, 1129, 1306], 'Hoogeveen': [997, 1131, 1308], 'Reuser': [999, 1133, 1310], 'A.J.': [1000, 1134, 1311, 2252], 'D.': [1001, 1135, 1312, 1496, 1637, 3342, 4359, 4719], 'Robinson': [1002, 1136, 1313], 'Galjaard': [1003, 1028, 1102, 1137, 1184, 1314, 1335, 1426], 'Proc.': [1005, 1139, 1316, 1836, 3223, 4611], 'Natl.': [1006, 1140, 1317, 1837, 3224, 4612], 'Acad.': [1007, 1141, 1318, 1838, 3225, 4613], 'U.': [1009, 1143, 1320, 1840, 3227, 4615], '1982;': [1012, 1146, 1323], '79:': [1013, 1147, 1324], '4535-4539Crossref': [1014, 1148, 1325], '(322)': [1017, 1151, 1328], '18Van': [1020], 'der': [1021, 1095, 1212, 1462, 4325], 'Horst': [1022, 1096], 'G.J.': [1023, 1097], 'Galjart': [1024, 1098, 1231], 'N.J.': [1025, 1099, 1232], "d'Azzo": [1026, 1100, 1239, 1469, 1555, 1834, 4332, 4390, 4609, 4789], 'Verheijen': [1030, 1104, 1182, 1333], 'F.W.': [1031, 1105, 1183, 1334], 'Biol.': [1033, 1049, 1107, 1187, 1242, 1338, 1526, 2944], 'Chem.': [1034, 1050, 1108, 1188, 1243, 1339, 1527, 2945], '1989;': [1035, 1109], '264:': [1036, 1110], '1317-1322Abstract': [1037, 1111], '19Pshezhetsky': [1044], 'A.V.': [1045, 1159, 1169, 1482, 1591, 1623, 1677, 1736, 2168, 2281, 2940, 3070, 3080, 3328, 3793, 3873, 3883, 4345, 4426, 4456, 4705, 4759, 4826, 5044, 5114, 5124, 5143, 5153], 'Potier': [1046, 1166, 1501, 1642, 2290, 2941, 3077, 3347, 3880, 4364, 4724, 5121, 5150], '1996;': [1051, 1285, 1473, 2946, 4336], '271:': [1052, 2947], '28359-28365Abstract': [1053, 2948], '(74)': [1061, 2956], 'Because': [1064], 'functional': [1066, 5106, 5214], 'completely': [1070], 'depends': [1071], 'integrity': [1074], 'association': [1077], 'A,': [1080, 3410, 3432, 4041, 5207], 'it': [1081, 1786], 'hypothesized': [1083], 'supports': [1087], 'catalytically': [1088], 'active': [1089, 1756, 4496, 4510, 4546, 4578], 'conformation': [1090], '(18Van': [1094], 'In': [1118, 1293, 1603, 1850, 3942, 4029, 4152, 4531, 4693, 5004], 'addition,': [1119, 4532, 5005], 'protects': [1122], 'against': [1126, 2853, 2868, 3644], 'proteolysis': [1128], '20Vinogradova': [1154], 'M.V.': [1155, 2283, 3066, 3869, 5110, 5139], 'Michaud': [1156, 1485, 1626, 3067, 3331, 3870, 4348, 4708, 5111, 5140], 'Mezentsev': [1158, 3069, 3872, 5113, 5142], 'Lukong': [1160, 3071, 3874, 4453, 4823, 5115, 5144], 'K.E.': [1161, 1569, 1655, 1714, 2146, 3072, 3771, 3875, 4404, 4454, 4737, 4824, 5022, 5116, 5145], 'El-Alfy': [1162, 3073, 3876, 5117, 5146], 'Morales': [1164, 3075, 3878, 5119, 5148], 'C.R.': [1165, 3076, 3879, 5120, 5149], 'Pshezhetsky': [1168, 1590, 1676, 1735, 2167, 3079, 3792, 3882, 4425, 4455, 4758, 4825, 5043, 5123, 5152], '1998;': [1172, 1221, 1843, 3083, 3886, 4618, 5127, 5156], '330:': [1173, 3084, 3887, 5128, 5157], '641-650Crossref': [1174, 3085, 3888, 5129, 5158], '21Hoogeveen': [1180, 1331], 'A.T.': [1181, 1332], '1983;': [1189, 1340, 3196], '258:': [1190, 1341], '12143-12146Abstract': [1191, 1342], 'may': [1199, 1907, 1927, 4501], 'important': [1202], 'proper': [1204], 'sorting': [1205], 'processing': [1207], 'their': [1209, 3142, 3527, 4504, 4985], 'precursors': [1210], '(22van': [1211], 'Spoel': [1213, 1463, 4326], 'Bonten': [1215, 1830, 4605], 'E.': [1216, 1460, 1554, 1831, 4323, 4389, 4606, 4788], 'Azzo': [1217], 'EMBO': [1219, 3171], '17:': [1222, 2259], '1588-1597Crossref': [1223], '(106)': [1226], '23Morreau': [1229], 'Willemsen': [1233], 'Gillemans': [1235], 'Zhou': [1237], 'X.Y.': [1238], '1992;': [1244, 1265, 3173], '267:': [1245], '17949-17956Abstract': [1246], "24D'Agrosa": [1253], 'Hubbes': [1255], 'Zhang': [1257, 1275], 'Shankaran': [1259], 'Callahan': [1261, 1281], 'J.W.': [1262], '285:': [1266], '833-838Crossref': [1267], '(28)': [1270], '25Okamura-Oho': [1273], 'Y.': [1274, 1573, 1659, 1718, 2150, 3775, 4408, 4438, 4448, 4741, 4808, 4818, 5026], 'Hilson': [1277], 'Hinek': [1279], '313:': [1286], '787-794Crossref': [1287], '(30)': [1290], 'galactosialidosis,': [1298], 'primary': [1300, 2012], 'defect': [1302], 'causes': [1356], 'combined': [1358], 'activities.': [1364, 3436], 'features': [1367], 'composition': [1370], 'storage': [1372], 'products': [1373, 5093], 'galactosialidosis': [1375, 4293, 4588, 5102, 5175], 'resemble': [1376], 'those': [1377, 3859, 5070], '(8Federico': [1380], '9Till': [1406], "26d'Azzo": [1420], 'Andria': [1422], 'Strisciuglio': [1424], '3811-3826Google': [1439], 'Recently': [1441], 'gene': [1443, 4268], 'coding': [1444], 'cloned,': [1448], 'series': [1451], '(27Bonten': [1459, 4322], 'van': [1461, 4324], 'Fornerod': [1465, 4328], 'Grosveld': [1467, 4330], 'Genes': [1471, 4334], '10:': [1474, 4337], '3156-3168Crossref': [1475, 4338], '(258)': [1478, 4341], '28Pshezhetsky': [1481, 4344], 'Richard': [1483, 1574, 1624, 1660, 1719, 2151, 3329, 3776, 4346, 4409, 4706, 4742, 5027], 'Igdoura': [1487, 1628, 3333, 4350, 4710], 'Wang': [1489, 1630, 3335, 4352, 4712], 'Elsliger': [1491, 1570, 1632, 1656, 1715, 2147, 2284, 3337, 3772, 4354, 4405, 4714, 4738, 5023], 'M.A.': [1492, 1550, 1571, 1633, 1657, 1716, 2148, 3338, 3773, 4355, 4385, 4406, 4715, 4739, 4784, 5024], 'Qu': [1493, 1634, 3339, 4356, 4716], 'Leclerc': [1495, 1636, 3341, 4358, 4718], 'Gravel': [1497, 1638, 3343, 4360, 4720], 'Dallaire': [1499, 1640, 2235, 3345, 4362, 4722], 'Nat.': [1503, 1644, 3349, 4366, 4726], '1997;': [1505, 1528, 1646, 3351, 4368, 4728], '15:': [1506, 1647, 3352, 4369, 4729], '316-320Crossref': [1507, 1648, 3353, 4370, 4730], '(186)': [1510, 1651, 3356, 4373, 4733], '29Milner': [1513], 'C.M.': [1514], 'Smith': [1515], 'S.V.': [1516], 'Carrillo': [1517], 'M.B.': [1518], 'Taylor': [1519, 3221], 'G.L.': [1520], 'Hollinshead': [1521], 'Campbell': [1523], 'R.D.': [1524], '272:': [1529], '4549-4558Abstract': [1530], '(105)': [1538], '30Bonten': [1541, 4376], 'E.J.': [1542, 4377, 4776], 'Arts': [1543, 4378, 4777], 'W.F.': [1544, 4379, 4778], 'Beck': [1545, 4380, 4779], 'Covanis': [1547, 4382, 4781], 'Donati': [1549, 4384, 4783], 'Parini': [1551, 4386, 4785], 'Zammarchi': [1553, 4388, 4787], 'Mol.': [1558, 1593, 1679, 1738, 2170, 3795, 4393, 4428, 4761, 4792, 5046], '2000;': [1560, 1595, 1681, 1740, 2172, 3797, 4395, 4430, 4462, 4763, 4794, 4832, 5048], '9:': [1561, 1596, 1682, 1741, 2173, 3798, 4396, 4431, 4764, 4795, 5049], '2715-2725Crossref': [1562, 4397, 4796], '(112)': [1565, 4400, 4799], '31Lukong': [1568, 1654, 4403, 4736], 'Chang': [1572, 1658, 1717, 2149, 3774, 4407, 4740, 5025], 'Carey': [1578, 1664, 1723, 2155, 3780, 4413, 4746, 5031], 'Tylki-Szymanska': [1580, 1666, 1725, 2157, 3782, 4415, 4748, 5033], 'Czartoryska': [1582, 1668, 1727, 2159, 3784, 4417, 4750, 5035], 'Buchholz': [1584, 1670, 1729, 2161, 3786, 4419, 4752, 5037], 'Criado': [1586, 1672, 1731, 2163, 3788, 4421, 4754, 5039], 'G.R.': [1587, 1673, 1732, 2164, 3789, 4422, 4755, 5040], 'Palmeri': [1588, 1674, 1733, 2165, 3790, 4423, 4756, 5041], '1075-1085Crossref': [1597, 1683, 1742, 2174, 3799, 4432, 4765, 5050], '(68)': [1600, 1686, 1745, 2177, 3802, 4435, 4768, 5053], 'particular,': [1604], 'we': [1605, 1698, 1853, 3590, 3651, 3850, 5239, 5254], 'frameshift': [1609, 4314], 'eight': [1611, 4842], 'nine': [1615], 'multiple': [1619], 'ethnic': [1620], 'origin': [1621], '(28Pshezhetsky': [1622, 3327, 4704], 'To': [1689, 2341, 3603, 3840], 'understand': [1690], 'these': [1694, 1790, 1905, 3960, 4227, 4913, 5193], 'modeled': [1699], 'tertiary': [1701], 'structure': [1702], 'localized': [1707], 'amino': [1710, 1861, 4309, 4849, 4953], 'acid': [1711, 1862, 4310, 4850, 4954], 'substitutions': [1712, 1863, 4311, 4955], '(31Lukong': [1713, 2145, 3770, 5021], 'Surprisingly,': [1748], 'none': [1749], 'directly': [1752], 'affected': [1753], 'deduced': [1755], 'site': [1757, 1972, 4497, 4511, 4547], 'residues': [1758, 1775, 4498, 4631], 'were': [1760, 1875, 1881, 1888, 1982, 1997, 2060, 2097, 2123, 2137, 2202, 2318, 2388, 2453, 2494, 2616, 2662, 2698, 2711, 2734, 2745, 2797, 2829, 2858, 2879, 2912, 2969, 3109, 3134, 3247, 3311, 3365, 3390, 3427, 3515, 3613, 3636, 3894, 3965, 4185, 4934], 'central': [1764, 4595], 'core': [1765, 1801, 4596], 'but': [1770, 1880], 'all': [1771, 2020, 3458, 3959, 4042, 4063, 4121, 5224], 'them': [1773, 4488], 'Therefore,': [1782], 'most': [1784, 1821], 'cases': [1785, 4895], 'unlikely': [1788], 'would': [1792], 'introduce': [1793], 'electrostatic': [1794], 'steric': [1796], 'clashes': [1797], 'protein': [1800, 2738, 3058, 3687, 3732, 4177, 4223, 4602, 4904, 5067, 5258], 'leading': [1802], 'to': [1803, 1898, 1930, 1958, 1967, 1977, 1999, 2018, 2028, 2047, 2076, 2321, 2383, 2557, 2713, 2718, 2896, 3140, 3255, 3394, 3562, 3626, 3690, 3858, 3938, 4010, 4542, 4556, 4560, 4583, 4642, 4908, 4936, 5069, 5186, 5311], 'general': [1804, 3754, 4917], 'folding': [1805, 3755, 4918], 'defects': [1806, 3756, 4264, 4317, 4919], 'retention': [1811, 3758, 4921], 'endoplasmic': [1814, 3761], 'reticulum/Golgi': [1815, 3762], 'compartment,': [1816, 3609], 'observed': [1819, 3653, 3861, 3979, 4088, 5071, 5096, 5188, 5255], 'affecting': [1825], '(32Rudenko': [1828, 4603], 'Hol': [1832, 4607], 'W.G.H.': [1833, 4608], '95:': [1844, 4619], '615-621Crossref': [1845, 4620], '(27)': [1847, 4622], 'paper': [1852], 'show': [1854, 5301], 'one': [1866, 4562], 'molecule': [1874, 4871], 'correctly': [1876, 4939], 'processed': [1877], 'sorted': [1879, 4907], 'rapidly': [1889], 'degraded': [1890], 'lysosome.': [1893, 5297], 'These': [1894, 3245], 'permitted': [1896], 'us': [1897], 'conclude': [1899], 'interface': [1914], 'secondary': [1929], 'Site-directed': [1938], 'mutagenesis': [1939, 1946, 3315], 'performed': [1941, 3155, 3851], 'using': [1942, 2180, 2207, 2779, 3028, 3111, 3156], 'TransformerTM': [1944], 'site-directed': [1945, 3314], 'kit': [1947], '(CLONTECH),': [1948], 'previously': [1950, 3063, 3320, 3860], 'described': [1951, 2215, 2938, 3064], 'pCMV-SIAL': [1952, 2002, 2102, 2118, 2140, 3318, 3371], 'vector,': [1954], 'mutagenic': [1955, 1991], 'primers': [1956, 1981], 'corresponding': [1957, 1990, 2209, 3375], 'mutant': [1959, 1988, 2101, 2377, 2793, 2910, 3308, 3686, 3731, 3907, 4003, 4206, 4903, 4924], 'sequences,': [1961], 'selection': [1964, 1995], 'primer': [1965, 1992, 1996], 'used': [1966, 2027, 3099, 3321], 'eliminate': [1968], 'uniqueScaI': [1970], 'restriction': [1971, 2016, 2066, 3360], 'vector': [1975, 3319, 3372], 'according': [1976, 2320, 2717], "supplier's": [1978], 'protocols.': [1979], 'All': [1980, 3444, 4929], 'enzymatically': [1983], 'phosphorylated,': [1984], 'each': [1987, 2709, 3021], 'annealed': [1998], 'heat-denatured': [2001], 'plasmid.': [2003, 2119], 'After': [2004, 3000], 'elongation': [2005], 'T4': [2007], 'DNA': [2008, 2037, 2084], 'polymerase,': [2009], 'ligation,': [2010], 'digestion': [2013, 2051, 2106], 'ScaI': [2015, 2050, 2065], 'linearize': [2019], 'nonmutated': [2021], 'DNA,': [2022], 'plasmid': [2024], 'pool': [2025, 2041], 'transform': [2029], 'mutS': [2031], 'strain': [2032], 'BMH71–18': [2034], 'bacteria.': [2035], 'Plasmid': [2036], 'obtained': [2038, 2098, 2583], 'ampicillin-resistant': [2043], 'transformants': [2044, 2079], 'subjected': [2046, 2712], 'second': [2049], 'transformed': [2053], 'into': [2054, 2115, 3025, 3368], 'Escherichia': [2055], 'coli': [2056], 'DH5α.': [2057], 'Positive': [2058], 'clones': [2059], 'selected': [2061], 'after': [2062, 2195, 2372, 2788, 2905, 3019, 3422, 3969, 4255], 'final': [2064, 2121, 2576, 2626], 'analysis,': [2067], 'entire': [2070], 'cDNA': [2072, 3909, 5079], 'sequenced.': [2074], 'Up': [2075], '80%': [2077], 'contained': [2080, 4061, 4848], 'desired': [2082], 'mutation.': [2083], 'fragments': [2085, 3376, 5064], 'between': [2087, 3486, 3500], '300': [2088, 2585], '600': [2090], 'base': [2091], 'pairs': [2092], 'introduced': [2095], 'plasmids': [2103], 'double': [2105], 'either': [2108], 'BstEII/NaeI,NaeI/KpnI,': [2109], 'KpnI/EcoRV': [2111], 'subcloned': [2114], 'parental': [2117, 3370], 'constructs': [2122, 3389], 'verified': [2124, 3391], 'sequencing.': [2126], 'COS-7': [2127, 2380, 2795, 2893, 3150, 3559, 3601, 3611, 3812, 4033, 4878, 5009, 5073, 5221], 'cells': [2128, 2381, 2452, 2493, 2589, 2643, 2796, 2857, 2894, 3446, 3612, 3635, 3707, 3813, 3902, 3961, 4034, 4093, 4156, 4879, 5010, 5074, 5099, 5176, 5222, 5231], 'seeded': [2129], 'T-25': [2131, 2899], 'flasks': [2132, 2900], '60-mm': [2134, 2386], 'round': [2135], 'dishes': [2136, 2387], 'co-transfected': [2138, 4035], 'pCMV-CathA': [2142], 'vectors': [2144], 'LipofectAMINE': [2181], 'Plus': [2182], 'reagent': [2183], '(Life': [2184, 2408], 'Technologies': [2185], 'Inc.)': [2186, 2410], 'accordance': [2188], "manufacturer's": [2191], 'protocol.': [2192], '48': [2193, 2370, 2786, 2903, 3420], 'h': [2194, 2363, 2371, 2399, 2570, 2601, 2631, 2787, 2904, 3013, 3421, 3930, 3971, 5181], 'transfection,': [2196, 3423], 'control': [2199, 3434], 'N-acetyl-β-glucosaminidase': [2200], 'activities': [2201, 3039], 'assayed': [2203, 2319, 3037, 3428], 'homogenates': [2206, 3835, 3900, 4983], 'fluorogenic': [2210], '4-methylumbelliferyl': [2211], 'glycoside': [2212], 'substrates': [2213, 2279], '(33Okada': [2216], 'Science.': [2220], '1968;': [2221], '160:': [2222], '1002-1004Crossref': [2223], '(293)': [2226], '34Potier': [2229], 'Mameli': [2231], 'Belisle': [2233], 'Melançon': [2237], 'S.B.': [2238], 'Anal.': [2239, 2292, 2325], '94:': [2242], '287-296Crossref': [2243], '(749)': [2246], '35Rome': [2249], 'L.H.': [2250], 'Garvin': [2251], 'Allietta': [2253], 'M.M.': [2254, 2324], 'Neufeld': [2255], 'E.F.': [2256, 3216], 'Cell.': [2257], '143-153Abstract': [2260], '(226)': [2266], 'determined': [2274, 2735], 'benzyloxycarbonyl-Phe-Leu': [2276], '3-(2-furyl)acryloyl-Phe-Leu': [2278], '(36Pshezhetsky': [2280], 'Vinogradova': [2282], 'M-A.': [2285], 'El-Zein': [2286], 'F.': [2287], 'Svedas': [2288], 'V.K.': [2289], '1995;': [2294], '230:': [2295], '303-307Crossref': [2296], '(19)': [2299], 'One': [2302], 'unit': [2303], 'defined': [2308, 4854], 'conversion': [2311], '1': [2313, 2509, 2655], 'μmol': [2314], 'substrate/min.': [2316], 'Proteins': [2317], 'Bradford': [2322], '(37Bradford': [2323], '1976;': [2327], '72:': [2328], '248-254Crossref': [2329], '(217544)': [2332], 'BSA1': [2336], '(Sigma)': [2337], 'standard.': [2340], 'measure': [2342, 3841], 'stability': [2344, 3832, 3843, 4885, 4977], 'homogenate': [2351], 'incubated': [2353, 2396, 2417, 2567, 2598, 2617], 'at': [2354, 2463, 2550, 2574, 2602, 2611, 2623, 2632, 2763, 2961, 2989, 3014, 3533], '37': [2355, 2464, 3534], '°C': [2356, 2465, 2634, 3535], '0.5,': [2358], '1,': [2359], '2,': [2360], '3': [2362, 4081, 4144], 'before': [2364, 4052], 'assay': [2366, 2513, 3810], 'transfection': [2373, 2789, 2906, 3455], 'wild-type': [2375, 2791, 2908, 3378, 3403, 3522, 3548, 3649, 3838, 3905, 3934, 4037, 4119, 4245, 5002, 5077, 5171], 'cDNA,': [2379], 'grown': [2382, 2895], 'confluency': [2384, 2897], 'washed': [2389, 2454, 2498, 2651, 2813, 2837], 'twice': [2390, 2455, 2499, 2814, 2838], "Hank's": [2392, 2457], 'balanced': [2393, 2458], 'salt': [2394, 2459], 'solution,': [2395], '2': [2398, 2600, 2630], 'cysteine': [2401], 'methionine-free': [2403], "Dulbecco's": [2404], 'modified': [2405], "eagle's": [2406], 'medium': [2407, 2428, 2446, 2470], 'Technologies,': [2409], 'supplemented': [2411, 2429], 'withl-glutamine': [2412], 'sodium': [2414, 2529, 2920], 'pyruvate,': [2415], 'then': [2416, 2448, 2503, 2628, 3278, 3366], 'again': [2418], '40': [2420, 2800, 2826, 3616, 3913], 'min': [2421, 2507, 2556, 2610, 2755, 2801, 3539, 3617, 3914, 5178], '5': [2423, 2534, 2703], 'ml': [2424, 2510, 2563, 2656, 2916], 'mixture': [2432], '[35S]Cys': [2434], '[35S]Met': [2436], '(Tran35S-label,': [2437], 'ICN': [2438], 'Pharmaceuticals': [2439], 'Inc.;': [2440], '0.1': [2441, 2538, 2677], 'mCi/ml': [2442], 'medium).': [2443], 'radioactive': [2445], 'removed,': [2449], 'solution': [2460, 2758], 'chased': [2462], "Eagle's": [2467], 'minimal': [2468], 'essential': [2469], '20%': [2472, 2685, 3489], '(v/v)': [2473, 2524, 2686], 'fetal': [2474], 'calf': [2475], 'without': [2479, 3982], 'protease': [2480], 'inhibitor': [2481, 3986], 'leupeptin': [2482], '(5': [2483], 'μg/ml).': [2484], 'At': [2485], 'time': [2487, 3925], 'indicated': [2488], 'figures,': [2491], 'placed': [2495], 'ice,': [2497], 'ice-cold': [2501, 2816], 'PBS,': [2502, 2817, 2840], 'lysed': [2504], '30': [2506, 2754, 3538], 'radioimmunoprecipitation': [2512, 2658], 'buffer': [2514, 2675], '50': [2516, 2706], 'mmTris-HCl': [2517], '(pH': [2518, 2680], '8.0),': [2519], '150': [2520], 'mm': [2521, 2539], 'NaCl,': [2522], '1%': [2523, 2931], 'Nonidet': [2525], 'P-40,': [2526], '0.5%': [2527], '(w/v)': [2528, 2532, 2683, 2693, 2932], 'deoxycholate,': [2530], '0.1%': [2531], 'SDS,': [2533, 2684], 'μg/ml': [2535], 'leupeptin,': [2536, 3983], 'α-toluenesulfonyl': [2540], 'fluoride': [2541], '(phenylmethylsulfonyl': [2542], 'fluoride).': [2543], 'lysate': [2545, 2565], 'collected': [2547, 4111], 'centrifuged': [2549, 2960], '13,000': [2551, 2612, 2962], '×': [2552, 2613], 'g': [2553], '10': [2555, 2609, 3026, 3487], 'remove': [2558], 'cell': [2560, 3425, 4026, 4989], 'debris.': [2561], '1.0': [2562], '4': [2569, 2603, 2633, 3283, 3929, 3970], 'preimmune': [2572], 'dilution': [2577], '1:20.': [2579], 'Then': [2580], 'pellet': [2582, 2637, 2649, 2666], 'μl': [2586, 2640, 2672, 2707], 'Pansorbin': [2588, 2642], '(Calbiochem)': [2590, 2936], 'added,': [2592], 'resulting': [2595, 3388, 4667], 'suspension': [2596], '°C,': [2604, 2765], 'g.': [2614], 'Supernatants': [2615], 'overnight': [2618], 'anti-sialidase': [2621, 2846, 2863, 3631, 3639, 3658, 3698, 3719, 3897], 'antibodies': [2622, 2847, 2852, 2864, 2867, 3640, 3643, 3720, 3898], '1:100': [2625], 'dilution,': [2627], '100': [2639, 2671], 'precipitated': [2645, 3895], 'above.': [2647], 'times': [2653], 'buffer.': [2659], 'antigens': [2661], 'eluted': [2663], 'addition': [2669], 'm': [2678, 2689, 2919], 'Tris-HCl': [2679], '6.8),': [2681], '4%': [2682], 'glycerol,': [2687], '0.2': [2688, 2915], 'dithiothreitol,': [2690], '0.02%': [2692], 'bromphenol': [2694], 'blue.': [2695], 'proteins': [2697, 3108, 3147, 4138], 'denatured': [2699], 'boiling': [2701], 'min,': [2704], 'sample': [2710], 'SDS-polyacrylamide': [2714], 'gel': [2715], 'electrophoresis': [2716], 'Laemmli': [2719], '(38Laemmli': [2720], 'U.K.': [2721], 'Nature.': [2722, 3195], '1970;': [2723], '227:': [2724], '680-685Crossref': [2725], '(207537)': [2728], 'weights': [2733], '14C-labeled': [2737], 'markers': [2739, 3662], '(Amersham': [2740, 2759, 3115], 'Pharmacia': [2741, 2760, 3116], 'Biotech).': [2742], 'gels': [2744], 'fixed': [2746, 2819], 'acetic': [2748], 'acid/isopropyl': [2749], 'alcohol/water': [2750], '(10:50:40),': [2751], 'soaked': [2752], 'Amplify™': [2757], 'Biotech),': [2761], 'vacuum-dried': [2762], '60': [2764], 'quantitative': [2769], 'fluorometry': [2770], 'PhosphorImager': [2773], 'SI': [2774], 'analysis': [2775, 5007], 'screen': [2776], '(Molecular': [2777, 2808], 'Dynamics)': [2778], 'software': [2781, 3284], 'supplied': [2782], 'manufacturer.': [2785], 'treated': [2798, 3614], '75': [2803, 3619], 'nm': [2804, 3620], 'LysoTracker': [2805, 3621, 3663, 3700], 'Red': [2806, 3622, 3664], 'DND-99': [2807, 3623], 'Probes,': [2809], 'Eugene,': [2810], 'OR)': [2811], 'dye,': [2812], '3%': [2821], 'paraformaldehyde': [2822], 'PBS': [2824], 'min.': [2827, 2966], 'Cells': [2828], 'permeabilized': [2830], 'incubating': [2832], '0.3%': [2834], 'Triton': [2835], 'X-100,': [2836], 'stained': [2842], 'rabbit': [2844, 2854, 2861], 'polyclonal': [2845, 2862], 'fluorescein': [2849, 3138], 'isothiocyanate-conjugated': [2850], 'monoclonal': [2851, 2866, 3642], 'IgG.': [2855], 'Alternatively,': [2856], 'double-stained': [2859, 3637], 'membrane': [2870], 'marker': [2871, 5270], 'LAMP-2': [2872, 3668], '(Washington': [2873], 'Biotechnology': [2874], 'Inc.,': [2875, 2890], 'Baltimore,': [2876], 'MD).': [2877], 'Slides': [2878], 'studied': [2880, 3301, 3591, 4018, 4302, 4881], 'Zeiss': [2883, 2889], 'LSM410': [2884], 'inverted': [2885], 'confocal': [2886], 'microscope': [2887], '(Carl': [2888], 'Thornwood,': [2891], 'NY).': [2892], 'harvested': [2902], 'solubilized': [2913], '0.15': [2918], 'acetate': [2921], 'buffer,': [2922], 'pH': [2923], '5.2,': [2924], '0.5': [2926], 'mg': [2927], 'BSA/ml': [2929], 'ZwitterionicTM': [2933], 'detergent': [2934], '3–12': [2935], '(19Pshezhetsky': [2939], '×g': [2963], '15': [2965], 'supernatants': [2968], 'applied': [2970], 'top': [2973], '30%': [2979], 'metrizamide': [2980], '(OptiPrep;': [2981], 'Nycomed': [2982], 'Amersham)': [2983], 'preformed': [2984], '2-h': [2987, 3544], 'ultracentrifugation': [2988, 4023], '45,000': [2990], 'rpm': [2991], 'Beckman': [2994, 3030], 'SW-55': [2995], 'Ti': [2996], 'swinging': [2997], 'bucket': [2998], 'rotor.': [2999], 'application': [3001], 'sample,': [3004], 'continued': [3008], 'additional': [3011], '17': [3012], 'speed.': [3017], 'Immediately': [3018], 'centrifugation,': [3020], 'tube': [3022, 3031], 'divided': [3024], 'fractions': [3027, 3097, 3145, 4112, 4228], 'slicer': [3032], 'kit.': [3033], 'Each': [3034], 'fraction': [3035], 'well': [3047], 'presence': [3051, 5058], 'human': [3053, 3263, 3408, 3645, 5084, 5215], 'Western': [3060, 3866, 4141, 5019], 'blot': [3061, 4142, 5020], '(20Vinogradova': [3065, 3868, 5109, 5138], 'endogenous': [3094, 4071], 'N-acetyl-β-hexosaminidase': [3095], 'internal': [3102], 'control.': [3103], 'masses': [3106], 'approximated': [3110], 'followingMr': [3113], 'standards': [3114], 'Biotech):': [3117], 'thyroglobulin': [3118, 4053], '(Mr': [3119, 3123, 3128, 4054, 4200], '=': [3120, 3124, 3129, 4055, 4201], '669,000),': [3121], 'catalase': [3122], '232,000),': [3125], 'BSA': [3127, 3133, 4199], '69,000).': [3130], 'Thyroglobulin': [3131], 'covalently': [3135], 'labeled': [3136, 3721], 'isothiocyanate': [3139], 'facilitate': [3141], 'detection': [3143], 'cell.': [3151], 'modeling': [3153, 3276, 3748], 'structures': [3158, 3246], 'homologous': [3160], 'sialidases': [3161], 'fromMicromonospora': [3162], 'viridifaciens': [3163], '(Ref.': [3164, 3188, 3212], '39Burmeister': [3165], 'W.P.': [3166], 'Ruigrok': [3167], 'R.W.H.': [3168], 'Cusack': [3169], '11:': [3174], '49-56Crossref': [3175], '(304)': [3178], 'Scholar;': [3180, 3203, 3237], 'Protein': [3181, 3204, 3238], 'Data': [3182, 3205, 3239], 'Bank': [3183, 3206, 3240], 'file': [3184, 3207, 3241], '1eur.pdb),': [3185], 'Salmonella': [3186], 'typhimurium': [3187], '40Varghese': [3189], 'J.N.': [3190], 'Laver': [3191, 3217], 'Colman': [3193], 'P.M.': [3194], '303:': [3197], '35-40Crossref': [3198], '(732)': [3201], '2sil.pdb),': [3208], 'Vibrio': [3210], 'cholerae': [3211], '41Crennell': [3213], 'S.J.': [3214], 'Garman': [3215], 'Vimr': [3219], 'E.R.': [3220], '1993;': [3230], '90:': [3231], '9852-9856Crossref': [3232], '(236)': [3235], '1kit.pdb)': [3242], 'templates.': [3244], 'superimposed': [3248], 'ProSup': [3250], "King's": [3251], 'Beech': [3252], 'Biosoftware': [3253], 'Solutions': [3254], 'determine': [3256], 'structurally': [3257, 3272], 'conserved': [3258, 3273], 'regions.': [3259, 3274], 'sequence': [3261], 'manually': [3266], 'aligned': [3267], 'sequences': [3270], 'carried': [3279], 'out': [3280], 'Modeler': [3282], '(Andrej': [3285], 'Sali,': [3286], 'Rockefeller': [3288], 'University,': [3289], 'York).': [3291], 'biogenesis': [3299], 'transient': [3304], 'cDNA.': [3309, 3380], 'Mutations': [3310], 'generated': [3312], 'Short': [3359], 'cassettes': [3361], 'inserted': [3367], 'replacing': [3373], 'inserts': [3382], 'junction': [3384], 'regions': [3385], 'ensure': [3395], 'correct': [3397, 4505], 'introduction': [3398], 'mutations.': [3400], 'Mutant': [3401], 'co-expressed': [3406], 'necessary': [3413, 4555], 'lysates': [3426, 3532], 'β-hexosaminidase': [3435], 'TableI.': [3443], 'transfected': [3445, 3708, 3903, 4094, 4157, 4234, 5011, 5075, 5232], 'similar': [3448, 3681, 3857, 4084, 4291, 4965, 5068, 5185], 'efficiency': [3456], 'cells.': [3459, 3602], 'Four': [3460], 'mutants,': [3464, 3714, 3828, 4164, 4844], 'very': [3471, 4279, 4970], '(<10%': [3473], 'normal)': [3475], 'F260Y': [3481, 3827], 'L270F': [3483, 3513], 'normal,': [3491], 'S182G': [3495, 4099], 'G328S': [3497, 3678, 4097], '20': [3501], '40%': [3503], 'normal.': [3505], 'Additional': [3506], 'experiments': [3507, 4942], 'significantly': [3517, 3830, 4996], 'less': [3518, 4104], 'stable': [3519], 'than': [3520, 3836, 4998], 'half-life': [3525, 3545, 4986, 5169], 'enzymatic': [3528], 'about': [3537, 4102], 'compared': [3541, 4114, 4243], 'enzyme.Table': [3549], 'IEnzymatic': [3550], 'biochemical': [3552], 'properties': [3553], 'cellsMutationEnzymatic': [3560], 'activityTraffic': [3561], 'lysosomesShortt1/2Complex': [3563], 'formation%Wild-type100+−+G68VND': [3564], '1-aND,': [3565], 'detected.': [3567, 3572, 3578, 4174], 'NA,': [3568, 3573, 3579], 'assessed.+NA1-aND,': [3570], 'assessed.NAS182G20–40+−+G227R<10−NA−F260Y10–20++−L270F10–20++−A298V<10++−G328S30–40+−+L363PND−NANA1-a': [3575], 'ND,': [3576], 'assessed.': [3581], 'Open': [3582], 'table': [3583], 'new': [3586], 'tab': [3587], 'Using': [3588], 'immunolabeling,': [3589], 'identify': [3604], 'late': [3607], 'endosomal': [3608], 'dye': [3624], 'prior': [3625], 'fixation': [3627], 'immunostaining': [3629, 3659], 'antibodies.': [3632], 'Alternatively': [3633], 'LAMP-2.': [3646], 'For': [3647], 'complete': [3655, 4669, 4672], 'co-localization': [3656, 3696], '(Fig.': [3665, 4080, 4143, 4481], '1)': [3666], '(not': [3669], 'shown).': [3670], 'localization,': [3682], 'able': [3689], 'reach': [3691], 'lysosomes.': [3693], 'partial': [3695], 'staining': [3701], 'detectable': [3704, 4686], 'G227R': [3711, 3766], 'L363P': [3713, 3768, 4534, 4568], 'majority': [3716, 4069, 4626, 4664, 4900], 'distinct': [3722], 'areas,': [3724], 'case': [3729, 5275], 'mostly': [3734, 4591], 'retained': [3735], 'prelysosomal': [3737], 'compartments.': [3738, 4928], 'This': [3739, 4057], 'finding': [3740], 'consistent': [3742, 4249], 'structural': [3747, 4479, 4646], 'compartment': [3763], 'both': [3765, 3863, 3919], 'substitutes': [3769], 'expressing': [3814], 'them,': [3822], 'i.e.': [3823], 'lower': [3831, 4997], 'cell,': [3849], 'pulse-chase': [3852], 'experiments.': [3853], '46–48-kDa': [3855, 3962], 'polypeptides': [3856], 'immunoprecipitation': [3864], 'blotting': [3867], 'pulsed': [3911], '(Fig.2).': [3915], 'intensities': [3917], 'bands': [3920, 3964], 'decreased': [3921], 'proportionally': [3922], 'chase.': [3927, 3973], 'By': [3928], 'chase,': [3932], 'normal': [3933, 5183, 5292], '∼50%': [3939], 'total.': [3941], 'contrast,': [3943, 4153], 'rate': [3946, 3977], 'A298V': [3951, 4163, 4233, 4703, 4951, 5016, 5200, 5237, 5280], 'remarkably': [3954], 'increased': [3955], 'so': [3956, 4303, 4565], 'already': [3966], 'nearly': [3967], 'undetectable': [3968], 'potent': [3985], 'serine': [3989], 'thiol': [3991], 'proteases,': [3992], 'they': [3995, 4968], 'ability': [4006], 'associate': [4011, 4210], '(Fig.3).': [4028], 'peak': [4049, 4189], 'sedimented': [4051, 4191, 5259], '669,000).': [4056], 'peak,': [4058], 'almost': [4062, 4671], 'activities,': [4073], 'probably': [4074, 4554], 'represented': [4075], 'A).': [4082], 'sedimentation': [4085], 'profile': [4086], 'mutants.': [4100], '3-fold': [4103], 'detected': [4108, 4139, 4225], 'control,': [4120], 'high': [4127, 4166, 5211, 5244], 'weight': [4129, 4168, 4197, 5246, 5269], 'fraction.': [4130], 'B)': [4145], 'Both': [4175], 'trace': [4180], 'levels': [4181], 'together': [4192, 5265], 'marker,': [4198], '69,000),': [4202], 'does': [4208], 'Moreover,': [4215, 4648], 'although': [4216, 5208], 'significant': [4218, 4645], 'cross-reacting': [4222], 'cells,': [4235], '∼50–100-fold': [4240], 'enzyme,': [4246], 'inactivation': [4252, 4673], 'dissociation': [4257], 'Analysis': [4261], 'shows': [4272], 'spectrum': [4275], 'underlies': [4289], 'clinically': [4290], 'disorders': [4292], 'GM1-gangliosidosis,': [4295], 'respectively.': [4296], 'Most': [4297], 'far,': [4304], '21': [4305], '27,': [4307], 'splicing': [4316], '2H.': [4318], 'Sakuraba,': [4319, 5319], 'private': [4320], 'communication.': [4321], 'Scholar,42Naganawa': [4437], 'Itoh': [4439, 4809], 'K.': [4440, 4444, 4810, 4814], 'Shimmoto': [4441, 4811], 'Takiguchi': [4443, 4813], 'Doi': [4445, 4815], 'Nishizawa': [4447, 4817], 'Kobayashi': [4449, 4819], 'Kamei': [4451, 4821], 'Sakuraba': [4457, 4827], '45:': [4463, 4833], '241-249Crossref': [4464, 4834], '(37)': [4467, 4837], 'localization': [4471], 'model': [4480], '4)': [4482, 4494], 'only': [4485], 'few': [4486], '(shown': [4489, 4687], 'blue': [4491], 'Fig.': [4493, 4691], 'affect': [4495, 4592], '(Y370C)': [4499], 'interfere': [4502], 'positions': [4506], '(L91R': [4507], 'residue': [4512, 4548, 4552], 'Arg78,': [4513], 'P80L': [4514], 'Arg97,': [4516], 'duplication': [4517], 'His399': [4519], 'Tyr400': [4521], 'Glu394,': [4523], 'P316S': [4524], 'Arg280,': [4526], 'P335Q': [4528], 'Arg341).': [4530], 'mutation': [4535, 4569], 'situated': [4537], 'β-strand': [4540, 4559], 'adjacent': [4541], 'Tyr370.': [4549], 'Leu363': [4551], 'anchor': [4557], 'Tyr370': [4564], 'can': [4570, 4915], 'potentially': [4571], 'site.': [4579], 'However,': [4580], 'contrast': [4582], 'cause': [4598, 4916], 'unfolding': [4599], 'involves': [4630], 'supposed': [4641], 'result': [4643], 'change.': [4647], 'uneven.': [4658], 'contains': [4662, 4697], 'causing': [4678], 'phenotype': [4683], 'easily': [4685], 'red': [4689], '4).': [4692], 'particular': [4694], 'R294S,': [4771], 'L231H,': [4772], 'G218A': [4774], '(30Bonten': [4775], 'W240R2,': [4802], 'V217M': [4804], 'G243R': [4806], '(42Naganawa': [4807], 'four': [4845, 4863], 'substitution': [4851], 'patch': [4856, 4959], '(G227R,': [4857], 'A298V)': [4861], 'areas': [4867], '(G68V,': [4872], 'L363P)': [4876, 4898], 'trafficking,': [4882], 'produced': [4888], '(G227R': [4896], 'lysosomes,': [4910], 'pre-lysosomal': [4927], 'targeted': [4935], 'lysosomes': [4937], 'processed.': [4940], 'Subsequent': [4941], 'revealed': [4943], 'fifth': [4962], 'β-sheet': [4963], 'properties.': [4966], 'First,': [4967], 'absent': [4973], 'Second,': [4976], 'estimated': [4991], 'metabolic': [4993], 'labeling': [4994, 5136], 'previous': [5006], 'demonstrated': [5056, 5165], '37-,': [5060], '26-,': [5061], '24-kDa': [5063], 'absence': [5082], 'pattern': [5089], 'patient': [5103], 'lacked': [5105], 'studies': [5137, 5299], '(30': [5177], 'versus': [5179], '2.7': [5180], 'cells)': [5184], 'work.': [5191], 'Together': [5192], 'data': [5194], 'suggest': [5195], 'protected': [5204], 'cases.': [5225], 'Indeed,': [5226], 'could': [5240], 'detect': [5242], 'Instead': [5253], 'during': [5260], 'BSA.': [5271], 'Therefore': [5272], 'deficit': [5283], 'resulted': [5287], 'protein-protein': [5293], 'interactions': [5294], 'Further': [5298], 'should': [5300], 'if': [5302], 'unique': [5306], 'extends': [5310], 'enzymes.': [5314], 'thank': [5316, 5327], 'Dr.': [5317, 5328], 'Hitoshi': [5318], 'who': [5320], 'generously': [5321], 'provided': [5322], 'unpublished': [5323], 'information.': [5324], 'Mila': [5329], 'Ashmarina': [5330], 'critical': [5332], 'reading': [5333], 'manuscript.': [5336]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2078037721', 'counts_by_year': [{'year': 2024, 'cited_by_count': 4}, {'year': 2021, 'cited_by_count': 3}, {'year': 2020, 'cited_by_count': 3}, {'year': 2018, 'cited_by_count': 1}, {'year': 2017, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 2}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 2}, {'year': 2013, 'cited_by_count': 6}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-24T14:00:09.422077', 'created_date': '2016-06-24'}