Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

Name: Work Video:
Duration: 3 min 30 s
Dongwon Lee; Wu Chen; Heet Naresh Kaku; Xinming Zhuo; Eugene S Chao; Armand Soriano; Allen Kuncheria; Stephanie Flores; Joo Hyun Kim; Frank Rigo; Paymaan Jafar‐Nejad; Arthur L. Beaudet; Matthew S. Caudill; Mingshan Xue
{'id': 'https://openalex.org/W4283164330', 'doi': 'https://doi.org/10.1101/2022.06.18.496687', 'title': 'Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome', 'display_name': 'Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome', 'publication_year': 2022, 'publication_date': '2022-06-19', 'ids': {'openalex': 'https://openalex.org/W4283164330', 'doi': 'https://doi.org/10.1101/2022.06.18.496687'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2022.06.18.496687', 'pdf_url': 'https://www.biorxiv.org/content/biorxiv/early/2022/06/21/2022.06.18.496687.full.pdf', 'source': {'id': 'https://openalex.org/S4306402567', 'display_name': 'bioRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, 'type': 'preprint', 'type_crossref': 'posted-content', 'indexed_in': ['crossref'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://www.biorxiv.org/content/biorxiv/early/2022/06/21/2022.06.18.496687.full.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5100405087', 'display_name': 'Dongwon Lee', 'orcid': 'https://orcid.org/0000-0002-1568-2249'}, 'institutions': [{'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}, {'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Dongwon Lee', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210117334', 'https://openalex.org/I4210147586']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5061873666', 'display_name': 'Wu Chen', 'orcid': 'https://orcid.org/0000-0002-7400-0519'}, 'institutions': [{'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}, {'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': True, 'raw_author_name': 'Wu Chen', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210117334', 'https://openalex.org/I4210147586']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011186173', 'display_name': 'Heet Naresh Kaku', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}, {'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Heet Naresh Kaku', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210117334', 'https://openalex.org/I4210147586']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011834523', 'display_name': 'Xinming Zhuo', 'orcid': 'https://orcid.org/0000-0002-1952-7131'}, 'institutions': [{'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Xinming Zhuo', 'raw_affiliation_strings': ['Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 7700, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 7700, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5021805644', 'display_name': 'Eugene S Chao', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}, {'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Eugene S. Chao', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210117334', 'https://openalex.org/I4210147586']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5060703300', 'display_name': 'Armand Soriano', 'orcid': 'https://orcid.org/0009-0009-6619-6281'}, 'institutions': [{'id': 'https://openalex.org/I2800035258', 'display_name': 'Ionis Pharmaceuticals (United States)', 'ror': 'https://ror.org/00t8bew53', 'country_code': 'US', 'type': 'company', 'lineage': ['https://openalex.org/I2800035258']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Armand Soriano', 'raw_affiliation_strings': ['Ionis Pharmaceuticals, Carlsbad, California 92010, USA'], 'affiliations': [{'raw_affiliation_string': 'Ionis Pharmaceuticals, Carlsbad, California 92010, USA', 'institution_ids': ['https://openalex.org/I2800035258']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5091678165', 'display_name': 'Allen Kuncheria', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Allen Kuncheria', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015222021', 'display_name': 'Stephanie Flores', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Stephanie Flores', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101774559', 'display_name': 'Joo Hyun Kim', 'orcid': 'https://orcid.org/0000-0002-8533-9649'}, 'institutions': [{'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}, {'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Joo Hyun Kim', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210117334', 'https://openalex.org/I4210147586']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5041605141', 'display_name': 'Frank Rigo', 'orcid': 'https://orcid.org/0000-0001-6467-3309'}, 'institutions': [{'id': 'https://openalex.org/I2800035258', 'display_name': 'Ionis Pharmaceuticals (United States)', 'ror': 'https://ror.org/00t8bew53', 'country_code': 'US', 'type': 'company', 'lineage': ['https://openalex.org/I2800035258']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Frank Rigo', 'raw_affiliation_strings': ['Ionis Pharmaceuticals, Carlsbad, California 92010, USA'], 'affiliations': [{'raw_affiliation_string': 'Ionis Pharmaceuticals, Carlsbad, California 92010, USA', 'institution_ids': ['https://openalex.org/I2800035258']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5081601379', 'display_name': 'Paymaan Jafar‐Nejad', 'orcid': 'https://orcid.org/0000-0001-5176-739X'}, 'institutions': [{'id': 'https://openalex.org/I2800035258', 'display_name': 'Ionis Pharmaceuticals (United States)', 'ror': 'https://ror.org/00t8bew53', 'country_code': 'US', 'type': 'company', 'lineage': ['https://openalex.org/I2800035258']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Paymaan Jafar-nejad', 'raw_affiliation_strings': ['Ionis Pharmaceuticals, Carlsbad, California 92010, USA'], 'affiliations': [{'raw_affiliation_string': 'Ionis Pharmaceuticals, Carlsbad, California 92010, USA', 'institution_ids': ['https://openalex.org/I2800035258']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5074963804', 'display_name': 'Arthur L. Beaudet', 'orcid': 'https://orcid.org/0000-0003-2083-3192'}, 'institutions': [{'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Arthur L. Beaudet', 'raw_affiliation_strings': ['Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 7700, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 7700, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5088145191', 'display_name': 'Matthew S. Caudill', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Matthew S. Caudill', 'raw_affiliation_strings': ['Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210147586', 'https://openalex.org/I4210117334']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5024073865', 'display_name': 'Mingshan Xue', 'orcid': 'https://orcid.org/0000-0003-1463-8884'}, 'institutions': [{'id': 'https://openalex.org/I4210147586', 'display_name': "Texas Children's Hospital", 'ror': 'https://ror.org/05cz92x43', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210147586']}, {'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}, {'id': 'https://openalex.org/I4210117334', 'display_name': 'Neurological Research Institute', 'ror': 'https://ror.org/02ea83075', 'country_code': 'US', 'type': 'other', 'lineage': ['https://openalex.org/I4210117334']}], 'countries': ['US'], 'is_corresponding': True, 'raw_author_name': 'Mingshan Xue', 'raw_affiliation_strings': ['Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 7700, USA', 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA"], 'affiliations': [{'raw_affiliation_string': "The Cain Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030, USA", 'institution_ids': ['https://openalex.org/I4210147586', 'https://openalex.org/I4210117334']}, {'raw_affiliation_string': 'Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 7700, USA', 'institution_ids': ['https://openalex.org/I181547552']}, {'raw_affiliation_string': 'Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 4, 'corresponding_author_ids': ['https://openalex.org/A5061873666', 'https://openalex.org/A5024073865'], 'corresponding_institution_ids': ['https://openalex.org/I4210117334', 'https://openalex.org/I4210147586', 'https://openalex.org/I181547552', 'https://openalex.org/I4210147586', 'https://openalex.org/I181547552', 'https://openalex.org/I4210117334'], 'apc_list': None, 'apc_paid': None, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.666959, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 60, 'max': 70}, 'biblio': {'volume': None, 'issue': None, 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11928', 'display_name': 'Genetic Syndromes and Imprinting', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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'}}, 'topics': [{'id': 'https://openalex.org/T11928', 'display_name': 'Genetic Syndromes and Imprinting', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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'}}, {'id': 'https://openalex.org/T10978', 'display_name': 'Prenatal Screening and Diagnostics', 'score': 0.9684, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, '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/T10269', 'display_name': 'Epigenetics and DNA Methylation', 'score': 0.9679, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular 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/ube3a', 'display_name': 'UBE3A', 'score': 0.9972529}, {'id': 'https://openalex.org/keywords/angelman-syndrome', 'display_name': 'Angelman Syndrome', 'score': 0.9963926}, {'id': 'https://openalex.org/keywords/neurodevelopmental-disorder', 'display_name': 'Neurodevelopmental disorder', 'score': 0.66462916}, {'id': 'https://openalex.org/keywords/knockout-mouse', 'display_name': 'Knockout mouse', 'score': 0.55515146}], 'concepts': [{'id': 'https://openalex.org/C2777041782', 'wikidata': 'https://www.wikidata.org/wiki/Q14878336', 'display_name': 'UBE3A', 'level': 5, 'score': 0.9972529}, {'id': 'https://openalex.org/C2778691456', 'wikidata': 'https://www.wikidata.org/wiki/Q535364', 'display_name': 'Angelman syndrome', 'level': 3, 'score': 0.9963926}, {'id': 'https://openalex.org/C2779388368', 'wikidata': 'https://www.wikidata.org/wiki/Q3450985', 'display_name': 'Neurodevelopmental disorder', 'level': 3, 'score': 0.66462916}, {'id': 'https://openalex.org/C182704531', 'wikidata': 'https://www.wikidata.org/wiki/Q1364740', 'display_name': 'Knockout mouse', 'level': 3, 'score': 0.55515146}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.45170227}, {'id': 'https://openalex.org/C127716648', 'wikidata': 'https://www.wikidata.org/wiki/Q104053', 'display_name': 'Phenotype', 'level': 3, 'score': 0.42590952}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.3589875}, {'id': 'https://openalex.org/C169760540', 'wikidata': 'https://www.wikidata.org/wiki/Q207011', 'display_name': 'Neuroscience', 'level': 1, 'score': 0.34892434}, {'id': 'https://openalex.org/C134459356', 'wikidata': 'https://www.wikidata.org/wiki/Q4274835', 'display_name': 'Ubiquitin ligase', 'level': 4, 'score': 0.32941025}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.27233875}, {'id': 'https://openalex.org/C25602115', 'wikidata': 'https://www.wikidata.org/wiki/Q407111', 'display_name': 'Ubiquitin', 'level': 3, 'score': 0.2378723}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.06555626}], 'mesh': [], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2022.06.18.496687', 'pdf_url': 'https://www.biorxiv.org/content/biorxiv/early/2022/06/21/2022.06.18.496687.full.pdf', 'source': {'id': 'https://openalex.org/S4306402567', 'display_name': 'bioRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://doi.org/10.7554/elife.81892', 'pdf_url': None, 'source': None, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1101/2022.06.18.496687', 'pdf_url': 'https://www.biorxiv.org/content/biorxiv/early/2022/06/21/2022.06.18.496687.full.pdf', 'source': {'id': 'https://openalex.org/S4306402567', 'display_name': 'bioRxiv (Cold Spring Harbor Laboratory)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I2750212522', 'host_organization_name': 'Cold Spring Harbor Laboratory', 'host_organization_lineage': ['https://openalex.org/I2750212522'], 'host_organization_lineage_names': ['Cold Spring Harbor Laboratory'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'submittedVersion', 'is_accepted': False, 'is_published': False}, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'id': 'https://metadata.un.org/sdg/3', 'score': 0.78}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 48, 'referenced_works': ['https://openalex.org/W1831618129', 'https://openalex.org/W1983532821', 'https://openalex.org/W1985513877', 'https://openalex.org/W1985567838', 'https://openalex.org/W1992577657', 'https://openalex.org/W2016365513', 'https://openalex.org/W2018389173', 'https://openalex.org/W2020538295', 'https://openalex.org/W2023353041', 'https://openalex.org/W2036322711', 'https://openalex.org/W2041807010', 'https://openalex.org/W2045819396', 'https://openalex.org/W2064303101', 'https://openalex.org/W2065138462', 'https://openalex.org/W2075059777', 'https://openalex.org/W2082543557', 'https://openalex.org/W2088707712', 'https://openalex.org/W2116283958', 'https://openalex.org/W2143860178', 'https://openalex.org/W2155623567', 'https://openalex.org/W2402801916', 'https://openalex.org/W2520272104', 'https://openalex.org/W2580347026', 'https://openalex.org/W2613494796', 'https://openalex.org/W2744804789', 'https://openalex.org/W2886887055', 'https://openalex.org/W2895927020', 'https://openalex.org/W2910202477', 'https://openalex.org/W2937529266', 'https://openalex.org/W2995824277', 'https://openalex.org/W3008559558', 'https://openalex.org/W3008711268', 'https://openalex.org/W3082704458', 'https://openalex.org/W3087736452', 'https://openalex.org/W3094331871', 'https://openalex.org/W3118096229', 'https://openalex.org/W3120991859', 'https://openalex.org/W3126915605', 'https://openalex.org/W3128879131', 'https://openalex.org/W3164872599', 'https://openalex.org/W3165105444', 'https://openalex.org/W3168160122', 'https://openalex.org/W3191979850', 'https://openalex.org/W3192696049', 'https://openalex.org/W3199832736', 'https://openalex.org/W3204635266', 'https://openalex.org/W3207642456', 'https://openalex.org/W4221098892'], 'related_works': ['https://openalex.org/W4313442014', 'https://openalex.org/W4283164330', 'https://openalex.org/W4247981369', 'https://openalex.org/W3202970859', 'https://openalex.org/W3084233741', 'https://openalex.org/W2995442537', 'https://openalex.org/W2943613942', 'https://openalex.org/W2041807010', 'https://openalex.org/W1973485468', 'https://openalex.org/W1752412230'], 'abstract_inverted_index': {'Abstract': [0], 'UBE3A': [1, 20, 34, 47, 63], 'encodes': [2], 'ubiquitin': [3], 'protein': [4, 143], 'ligase': [5], 'E3A,': [6], 'and': [7, 121, 163, 167], 'in': [8, 88, 108], 'neurons': [9, 28], 'its': [10], 'expression': [11, 87], 'from': [12], 'the': [13, 19, 60, 117, 132, 139, 149, 175], 'paternal': [14, 62], 'allele': [15], 'is': [16, 43, 57, 158], 'repressed': [17], 'by': [18, 45, 64, 84, 105], 'antisense': [21, 106], 'transcript': [22], '(': [23], 'UBE3A-ATS': [24, 66], ').': [25], 'This': [26], 'leaves': [27], 'susceptible': [29], 'to': [30, 53, 58, 173], 'loss-of-function': [31], 'of': [32, 75, 128, 134, 141, 152, 178], 'maternal': [33, 46, 76, 112], '.': [35, 67], 'Indeed,': [36], 'Angelman': [37, 55, 97, 129, 156], 'syndrome,': [38], 'a': [39, 92], 'severe': [40], 'neurodevelopmental': [41], 'disorder,': [42], 'caused': [44], 'deficiency.': [48], 'A': [49], 'promising': [50], 'therapeutic': [51, 94, 150], 'approach': [52], 'treating': [54], 'syndrome': [56, 157], 'reactivate': [59], 'intact': [61], 'suppressing': [65], 'Prior': [68], 'studies': [69], 'show': [70], 'that': [71, 102, 148], 'many': [72], 'neurological': [73], 'phenotypes': [74], 'Ube3a': [77, 86, 113, 142], 'knockout': [78, 114], 'mice': [79, 115], 'can': [80], 'only': [81], 'be': [82, 171], 'rescued': [83], 'reinstating': [85], 'early': [89], 'development,': [90], 'indicating': [91], 'restricted': [93], 'window': [95, 151], 'for': [96, 155], 'syndrome.': [98, 130], 'Here': [99], 'we': [100], 'report': [101], 'reducing': [103], 'Ube3a-ATS': [104], 'oligonucleotides': [107], 'juvenile': [109], 'or': [110], 'adult': [111], 'rescues': [116], 'abnormal': [118], 'electroencephalogram': [119, 164], 'rhythms': [120], 'sleep': [122, 168], 'disturbance,': [123], 'two': [124], 'prominent': [125], 'clinical': [126, 176], 'features': [127], 'Importantly,': [131], 'degree': [133], 'phenotypic': [135], 'improvement': [136], 'correlates': [137], 'with': [138], 'increase': [140], 'levels.': [144], 'These': [145], 'results': [146], 'indicate': [147], 'genetic': [153], 'therapies': [154], 'broader': [159], 'than': [160], 'previously': [161], 'thought,': [162], 'power': [165], 'spectrum': [166], 'architecture': [169], 'should': [170], 'used': [172], 'evaluate': [174], 'efficacy': [177], 'therapies.': [179]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4283164330', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}], 'updated_date': '2025-01-04T20:36:36.299204', 'created_date': '2022-06-21'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
