Publication Information

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1818, 2178], 'metabolic': [9, 183, 710, 915], 'diseases': [10, 184, 674, 1155, 1998], 'caused': [11, 185, 391, 2221, 4016], 'by': [12, 186, 392, 886, 934, 981, 1061, 1071, 1635, 1648, 1652, 2222, 2257, 2688, 2846, 3246, 4017], 'mutations': [13, 187, 1791, 2070, 2087, 2134, 2223, 2276, 2285, 2353, 2399, 2460, 4018], 'in': [14, 20, 24, 76, 93, 96, 104, 113, 144, 188, 194, 198, 250, 267, 270, 278, 287, 318, 451, 494, 524, 530, 561, 653, 684, 766, 858, 995, 1080, 1195, 1253, 1325, 1355, 1365, 1383, 1409, 1496, 1563, 1566, 1661, 1747, 1763, 1792, 1817, 1876, 1974, 2038, 2074, 2115, 2177, 2203, 2224, 2278, 2355, 2358, 2363, 2400, 2408, 2412, 2467, 2581, 2726, 2781, 2807, 2968, 3003, 3028, 3064, 3178, 3238, 3339, 3408, 3411, 3497, 3552, 3620, 3674, 3713, 3773, 3808, 3825, 3842, 3884, 3931, 3962, 3987, 4005, 4019, 4051], 'genes': [15, 189, 2402], 'that': [16, 51, 190, 225, 402, 703, 773, 791, 818, 880, 986, 1128, 1278, 1353, 1441, 1601, 1732, 1737, 1788, 1851, 2228, 2398, 2461, 2502, 2518, 2534, 2570, 2681, 2945, 3275, 3355, 3803, 3873, 4023], 'encode': [17, 191], 'proteins': [18, 192, 401, 1455, 1600, 2887], 'involved': [19, 193, 1079], 'different': [21, 195, 522, 2404, 2721, 3313], 'lysosomal': [22, 64, 196, 238, 372, 406, 411, 452, 480, 614, 679, 837, 960, 1005, 1147, 1153, 1196, 1227, 1730, 1793, 1866, 1922, 1938, 1996, 2039, 2116, 2152, 2405, 2445, 2644, 2663, 2808, 2866, 2897, 2922, 3143], 'functions,': [23, 197], 'most': [25, 123, 199, 297, 778, 794, 2131, 2217, 2282, 2496, 2935], 'instances': [26, 200], 'acidic': [27, 201, 385, 1888], 'hydrolases.': [28, 202], 'Different': [29, 203], 'therapeutic': [30, 172, 204, 346, 740, 789, 1102, 1260, 3158, 3236], 'approaches': [31, 205, 741, 1784, 1845, 3159], 'have': [32, 206, 697, 853, 1347, 1738, 1795, 2071, 2142, 2761, 2778, 3302, 3324, 3356], 'been': [33, 207, 698, 793, 1251, 2072, 2201, 2428, 2500, 2568, 2762, 2779, 2880, 3325, 3337], 'developed': [34, 208], 'to': [35, 69, 209, 243, 415, 507, 603, 677, 700, 724, 799, 827, 869, 954, 1161, 1191, 1281, 1321, 1363, 1379, 1472, 1492, 1521, 1614, 1710, 1744, 1768, 1785, 1813, 1859, 1892, 1901, 1956, 1992, 2004, 2034, 2089, 2111, 2173, 2214, 2424, 2480, 2578, 2593, 2705, 2713, 2718, 2803, 2855, 2872, 2888, 2978, 3172, 3190, 3219, 3231, 3251, 3269, 3277, 3301, 3306, 3330, 3480, 3606], 'treat': [36, 210, 1322, 1380, 1493, 1814, 2174], 'these': [37, 211, 739, 1366, 1780, 1885, 3264], 'disorders.': [38, 212], 'Pharmacological': [39, 213, 2441, 2659, 3201, 3768, 3837], 'chaperone': [40, 168, 214, 342, 1242, 2442, 2545, 2660, 3551, 3669, 3729], 'therapy': [41, 215, 804, 1003, 1243, 2443, 2661, 2917, 2967, 3453, 3579, 3638, 3697], '(PCT)': [42, 216, 1244], 'is': [43, 100, 217, 274, 382, 585, 671, 780, 801, 807, 881, 1099, 1123, 1270, 1279, 2220, 2255, 2576, 2823, 2852], 'an': [44, 218, 597, 617, 1776, 3065, 3927, 4006, 4013], 'emerging': [45, 219], 'approach': [46, 220, 790], 'based': [47, 221, 808], 'on': [48, 86, 222, 260, 640, 809, 908, 1428, 1775, 1921, 2145, 2728, 3494, 3734, 4003], 'small-molecule': [49, 223, 1783, 1849], 'ligands': [50, 224, 1850], 'selectively': [52, 226, 1130, 1852, 1965], 'bind': [53, 227, 1131, 1853, 1966], 'and': [54, 62, 66, 83, 95, 138, 162, 170, 228, 236, 240, 257, 269, 312, 336, 344, 482, 493, 527, 539, 549, 577, 579, 643, 658, 668, 681, 694, 770, 796, 829, 857, 945, 950, 1026, 1068, 1132, 1141, 1143, 1149, 1186, 1268, 1274, 1332, 1390, 1435, 1443, 1503, 1519, 1534, 1542, 1565, 1582, 1605, 1612, 1643, 1679, 1689, 1713, 1761, 1824, 1843, 1854, 1864, 1868, 1917, 1925, 1967, 1979, 2029, 2083, 2106, 2141, 2151, 2184, 2254, 2270, 2288, 2312, 2362, 2369, 2377, 2473, 2517, 2606, 2635, 2638, 2694, 2711, 2723, 2758, 2771, 2798, 2839, 2865, 2949, 3111, 3128, 3132, 3223, 3228, 3253, 3279, 3296, 3328, 3617, 3712, 3778, 3824, 3847], 'stabilize': [55, 229, 1133, 1528, 1855, 1968], 'mutant': [56, 230, 1134, 1727, 1937, 2156], 'enzymes,': [57, 231, 1135, 1939], 'increase': [58, 232, 1860], 'their': [59, 233, 638, 645, 666, 946, 1146, 1748, 2159], 'cellular': [60, 234, 508, 685, 747, 1074, 1283, 1862, 1977, 2315, 2686, 2863, 3240, 3281], 'levels,': [61, 235, 1978, 3256], 'improve': [63, 237, 1865], 'trafficking': [65, 239, 1756, 1867], 'activity.': [67, 241, 3282], 'Compared': [68, 242], 'other': [70, 171, 244, 345, 2432, 3157], 'approaches,': [71, 245], 'PCT': [72, 99, 148, 246, 273, 322, 2476, 2689, 3186, 3247, 3335, 4004], 'shows': [73, 247], 'advantages,': [74, 248], 'particularly': [75, 249], 'terms': [77, 251, 654], 'oral': [79, 253, 3214], 'administration,': [80, 254, 3375], 'broad': [81, 255, 562, 3216], 'biodistribution,': [82, 256], 'positive': [84, 258], 'impact': [85, 259, 569, 639], "patients'": [87, 261, 570, 641], 'quality': [88, 262, 572, 1350, 1638, 1659, 1686, 1723, 1983], 'life.': [90, 264], 'After': [91, 265], 'preclinical': [92, 266, 3340], 'vitro': [94, 268, 1564], 'vivo': [97, 271, 3714, 3826], 'studies,': [98, 272], 'now': [101, 275], 'being': [102, 276], 'translated': [103, 277], 'the': [105, 122, 129, 132, 145, 153, 163, 279, 296, 303, 306, 319, 327, 337, 375, 379, 416, 531, 557, 689, 709, 746, 752, 758, 763, 774, 787, 810, 884, 957, 974, 989, 992, 996, 1031, 1254, 1359, 1410, 1522, 1609, 1615, 1620, 1625, 1630, 1636, 1649, 1653, 1662, 1682, 1703, 1711, 1717, 1721, 1758, 1798, 1840, 1877, 1882, 1902, 1951, 1958, 1982, 1987, 2137, 2155, 2216, 2225, 2266, 2280, 2359, 2380, 2401, 2413, 2459, 2478, 2486, 2536, 2596, 2629, 2639, 2642, 2684, 2701, 2733, 2736, 2739, 2744, 2826, 2836, 2870, 2874, 2883, 2890, 2919, 2937, 2979, 3029, 3188, 3196, 3226, 3229, 3260, 3286, 3317, 3358, 3412, 3482, 3881, 4020], 'first': [106, 133, 280, 307, 4001], 'clinical': [107, 134, 281, 308, 544, 563, 669, 3182, 3362, 3387], 'trials,': [108, 282], 'either': [109, 283, 1647, 3170], 'as': [110, 284, 877, 1077, 1224, 1459, 1641, 2379, 2591, 2732, 2859, 2861, 3210, 3267, 3376, 3548, 3926, 3959], 'monotherapy': [111, 285], 'or': [112, 286, 399, 749, 755, 933, 1070, 1468, 1651, 1736, 1750, 1771, 2975, 3176, 3271, 3459], 'combination': [114, 288], 'with': [115, 289, 556, 596, 757, 1156, 1256, 1446, 1946, 1989, 1999, 2584, 2708, 2972, 3007, 3033, 3067, 3072, 3097, 3142, 3206, 3418, 3499, 3622, 3679], 'enzyme': [116, 290, 754, 785, 802, 817, 872, 994, 1193, 1873, 1954, 2036, 2113, 2508, 2805, 2915, 3008, 3131, 3244, 3255, 3680], 'replacement': [117, 291, 803, 835, 2916, 3009, 3134, 3681], 'therapy,': [118, 292, 1038, 3165], 'for': [119, 293, 405, 644, 836, 864, 913, 948, 1004, 1039, 1104, 1226, 1245, 1299, 1645, 2064, 2205, 2430, 2444, 2485, 2547, 2662, 2698, 2764, 2830, 2896, 2918, 3102, 3290, 3309, 3342, 3361, 3801, 3910, 4010], 'some': [120, 127, 294, 301, 859, 1257, 1936, 2468, 2765, 2834, 3194, 3321], 'prevalent': [124, 298, 2218, 2283, 2466], 'LSDs.': [125, 299, 2207, 2832, 3346], 'For': [126, 300, 374, 637, 1702, 1935, 2053, 2208, 2495, 2751], 'LSDs,': [128, 302, 378, 1720, 2075, 2469, 2497, 2583], 'results': [130, 304, 365, 529, 4050], 'trials': [135, 309], 'encouraging': [137, 311], 'warrant': [139, 313], 'further': [140, 314], 'development.': [141, 315, 3183], 'Future': [142, 316], 'research': [143, 317], 'field': [146, 320], 'will': [149, 323, 987], 'be': [150, 324, 820, 825, 875, 979, 1633, 1893, 1944, 2060, 2090, 2215, 2481, 2706, 3299, 3331], 'directed': [151, 325, 743, 1028], 'toward': [152, 326, 744, 1029], 'identification': [154, 328], 'novel': [156, 330, 2542], 'chaperones,': [157, 331, 1125, 1629], 'including': [158, 332, 1358, 2076, 3225], 'new': [159, 333, 1101, 3989], 'allosteric': [160, 334], 'drugs,': [161, 335], 'exploitation': [164, 338], 'synergies': [166, 340], 'between': [167, 341, 1264, 2628, 3610], 'treatment': [169, 343, 2487, 2920, 3030, 3071], 'approaches.': [173, 347], 'represent': [352, 649, 675], 'heterogeneous': [354], 'more': [357, 1841, 2091, 2273, 3257], 'than': [358, 2274], '50': [359], 'distinct': [360], 'diseases,': [361], 'each': [362, 583], 'which': [364, 425, 1040], 'from': [366, 505, 628, 722, 1066, 1138, 1159, 1477, 1790, 2002, 2239, 2295, 3775, 3844], 'functional': [367], 'deficiency': [368, 393, 781], 'particular': [371, 784], 'protein.': [373], 'majority': [376, 737], 'defective': [380, 753, 2422], 'protein': [381, 952, 1265, 1284, 1323, 1381, 1494, 1529, 1561, 1583, 1622, 1631, 1684, 1815, 2146, 2175, 2409, 2419, 2548], 'soluble': [384], 'hydrolase,': [386], 'while': [387, 2753], 'several': [388, 1782, 2206, 2582, 2831], 'others': [389, 2848], 'integral': [395], 'membrane,': [396], 'activator,': [397], 'transporter,': [398], 'nonlysosomal': [400], 'necessary': [404], 'function.': [407], 'Deficiency': [408, 4045], 'function': [412, 481, 680, 1354, 1581, 1766, 3410], 'invariably': [413], 'leads': [414, 3276], 'accumulation': [417, 2259, 2523, 4052], 'wide': [420], 'range': [421], 'complex': [423, 1349], 'substrates,': [424], 'may': [426, 874, 977, 1632, 1754, 2690, 2724, 3249], 'include': [427], 'various': [428, 1356, 1447, 2729], 'glycosphingolipids,': [429, 4054], 'glycosaminoglycans,': [430], 'glycogen,': [431], 'oligosaccharides,': [432], 'cholesterol,': [433], 'peptides,': [434], 'and/or': [435, 2421], 'glycoproteins,1Karageorgos': [436], 'LE': [437], 'Isaac': [438], 'EL': [439], 'Brooks': [440, 474], 'DA': [441, 475], 'Ravenscroft': [442], 'EM': [443, 3860], 'Davey': [444], 'R': [445, 471, 1175, 1179, 1218, 1657, 2018, 2022, 2095, 2099, 2787, 2791, 3120, 3399], 'Hopwood': [446, 610], 'JJ': [447, 896, 1183, 2026, 2103, 2599, 2795], 'et': [448, 1094, 1184, 1221, 2027, 2104, 2329, 2796, 3060, 3125, 3406, 3475, 3601, 3667, 3727, 3871], 'al.Lysosomal': [449], 'biogenesis': [450], 'disorders.Exp': [454], 'Cell': [455, 1415], 'Res.': [456], '1997;': [457], '234:': [458], '85-97Crossref': [459], 'PubMed': [460, 488, 515, 731, 844, 928, 968, 1017, 1056, 1112, 1168, 1205, 1235, 1305, 1341, 1399, 1420, 1512, 1550, 1574, 1593, 1670, 1697, 1833, 1930, 2011, 2048, 2125, 2193, 2249, 2305, 2347, 2392, 2453, 2561, 2614, 2651, 2817, 2906, 2929, 2991, 3017, 3042, 3085, 3151, 3427, 3563, 3692, 3747, 3786, 3816, 3855, 3897, 3972, 4040], 'Scopus': [461, 489, 516, 732, 845, 929, 969, 1018, 1057, 1113, 1169, 1206, 1236, 1306, 1342, 1400, 1421, 1513, 1551, 1575, 1594, 1671, 1698, 1834, 1931, 2012, 2049, 2126, 2194, 2250, 2306, 2348, 2393, 2454, 2562, 2615, 2652, 2818, 2907, 2930, 2992, 3018, 3086, 3152, 3428, 3564, 3693, 3748, 3787, 3817, 3856, 3898, 3940, 3973, 4041], '(64)': [462], 'Google': [463, 491, 518, 734, 847, 931, 971, 1020, 1059, 1115, 1171, 1208, 1238, 1308, 1344, 1402, 1423, 1515, 1553, 1577, 1596, 1673, 1700, 1836, 1933, 2014, 2051, 2128, 2196, 2252, 2308, 2350, 2395, 2456, 2564, 2617, 2654, 2677, 2820, 2909, 2932, 2994, 3020, 3043, 3088, 3154, 3430, 3514, 3566, 3635, 3695, 3750, 3789, 3819, 3858, 3900, 3942, 3975, 4043], 'Scholar,2Parkinson-Lawrence': [464], 'EJ': [465], 'Shandala': [466], 'T': [467, 1655], 'Prodoehl': [468], 'M': [469, 607, 622, 1047, 1089, 1314, 1372, 1485, 1557, 1677, 1806, 2166, 2374, 2436, 2893, 3022, 3405, 3468, 3474, 3592, 3596, 3720, 3726, 3763, 3832, 3919], 'Plew': [470], 'Borlace': [472], 'GN': [473], 'disease:': [478, 2236, 2292], 'revealing': [479], 'physiology.Physiology': [483], '(Bethesda).': [484], '2010;': [485, 920, 2903, 3077, 3969, 4037], '25:': [486], '102-115Crossref': [487], '(164)': [490], 'Scholar': [492, 519, 636, 735, 848, 932, 972, 1021, 1060, 1116, 1239, 1345, 1424, 1516, 1597, 1701, 1837, 1934, 2052, 2129, 2197, 2253, 2309, 2351, 2396, 2457, 2565, 2678, 2821, 2933, 3089, 3155, 4044], 'secondary': [495], 'impairment': [496], 'lysosome-related': [498], 'pathways.3Ballabio': [499], 'A': [500, 620, 718, 940, 1294, 1406, 2634, 2637, 2668, 3395, 3539, 3806, 4026, 4048], 'Gieselmann': [501], 'V': [502, 2601, 3122], 'disorders:': [504, 1540], 'damage.Biochim': [509], 'Biophys': [510, 3966], 'Acta.': [511], '2009;': [512, 1165, 1571, 1927, 2008, 2926, 3039, 3937], '1793:': [513], '684-696Crossref': [514], '(428)': [517], 'Storage': [520], 'substrates': [523, 1034, 1065], 'multiple': [525, 861, 1429, 2237, 2293], 'organs': [526], 'systems': [528, 1352, 2842], 'variable': [532, 2364], 'association': [533], 'visceral,': [535], 'ocular,': [536], 'hematologic,': [537], 'skeletal,': [538], 'neurological': [540], 'manifestations.': [541], 'Severity': [542], 'manifestations,': [545], 'age': [546], 'at': [547, 707, 1897, 3192], 'onset,': [548], 'disease': [550, 1300, 2385, 2472, 2597, 2692, 2747, 2770, 2970, 3005, 3069, 3417, 3676], 'course': [551], 'often': [552, 1725, 2589, 2853], 'vary': [553, 2719], 'among': [554, 2720], 'individuals': [555], 'same': [558], 'LSD,': [559, 2219], 'resulting': [560, 1973, 2643], 'presentation.': [564], 'In': [565, 1678, 1716, 1960, 2130, 2868, 3090, 3184, 3283, 3315], 'general,': [566], 'LSDs': [567, 648, 663, 779, 852, 1249, 2058, 3175], 'substantially': [568], 'health,': [571], 'life,': [574], 'life': [575, 2538], 'expectancy,': [576], 'physical': [578], 'intellectual': [580], 'performances.': [581], 'While': [582, 2066, 2833], 'LSD': [584, 4007], 'quite': [586], 'rare,': [587, 665], 'collectively': [588], 'they': [589], 'affect': [590], 'large': [592, 2077, 2886], 'number': [593, 1247, 2055, 3311, 3344], 'individuals,': [595], 'estimated': [598], 'incidence': [599], 'rate': [600, 2740], '1:5,000': [602], '1:7,000': [604], 'live': [605], 'births.4Fuller': [606], 'Meikle,': [608], 'PJ': [609], 'JJ.': [611], 'Epidemiology': [612], 'diseases:': [616, 721], 'overview.in:': [618], 'Mehta': [619], 'Beck': [621], 'Sunder-Plassmann': [623], 'G': [624, 714, 716, 1151, 1181, 1212, 1994, 2024, 2101, 2434, 2440, 2793, 3541, 3655, 3660, 3948], 'Fabry': [625, 2474, 2969, 3500, 4011, 4032], 'Disease:': [626], 'Perspectives': [627], '5': [629], 'Years': [630], 'FOS.': [632], 'Oxford': [633], 'PharmaGenesis,': [634], 'Oxford2006http://www.ncbi.nlm.nih.gov/books/NBK11586/?report=readerGoogle': [635], 'health': [642, 657], 'cumulative': [646], 'frequency,': [647], 'heavy': [651], 'burden': [652], 'public': [656], 'economical': [659], 'costs.': [660], 'Even': [661], 'though': [662], 'biological': [667], 'interest': [670], 'high.': [672], 'These': [673, 1425, 2352], 'models': [676], 'understand': [678], 'its': [682], 'role': [683], 'biology.': [686], 'Furthermore,': [687, 2934], 'over': [688, 1797], 'past': [690, 1799], '25': [691], 'years,': [692], 'intensive': [693], 'continuous': [695], 'advancements': [696], 'made': [699], 'develop': [701], 'therapies': [702, 2546], 'specifically': [705], 'aimed': [706], 'correcting': [708], 'defect(s)': [711], 'LSDs.5Parenti': [713], 'Andria': [715, 2439], 'Ballabio': [717], 'pathophysiology': [723], 'therapy.Annu': [725], 'Rev': [726, 839, 1413, 3011], 'Med.': [727, 840, 1108, 1164, 2007, 2982, 3423], '2015;': [728, 3894], '66:': [729], '471-486Crossref': [730], '(263)': [733], 'The': [736, 1117, 1262, 3156, 4000], 'increasing': [745, 1145], 'activity': [748, 1735, 1869, 2509, 2573, 2588, 2631, 2687, 2703, 2760, 3245, 3496, 3673, 3772, 3807, 3841, 3879, 4049], 'level': [750], 'protein,': [756], 'ultimate': [759], 'goal': [760], 'lowering': [762], 'accumulated': [764], 'substrate': [765, 831, 1036, 2503, 2529, 2742, 3133, 3163], 'key': [767, 3220], 'cell': [768, 893, 911, 3221], 'types': [769, 2068, 3222], 'tissues.': [771], 'Given': [772], 'underlying': [775, 2383, 2837, 3928], 'cause': [776, 2462], 'activity,': [786, 2316], 'primary': [788], 'has': [792, 1250, 2200, 2426, 2477, 2499, 2567, 2878, 3187, 3336], 'successful': [795], 'broadly': [797], 'reached': [798], 'date': [800], '(ERT).': [805], 'ERT': [806, 855, 2822, 3092, 3273], 'periodic': [811], 'intravenous': [812, 3095, 3456, 3583, 3642, 3701], 'administration': [813, 3274], 'manufactured': [816, 3287], 'can': [819, 1129, 1527, 1607, 1943, 2059, 2946, 3957], 'taken': [821], 'up': [822], 'into': [823, 883, 2696], 'cells,': [824], 'delivered': [826], 'lysosomes,': [828], 'reduce': [830], 'storage.6Brady': [832], 'RO': [833], 'Enzyme': [834], 'diseases.Annu': [838], '2006;': [841, 1009, 1547, 2246, 2302], '57:': [842, 921, 2612], '283-296Crossref': [843], '(239)': [846], 'To': [849], 'date,': [850], 'seven': [851], 'marketed': [854], 'products,': [856], 'cases,': [860, 2132], 'products': [862], 'exist': [863, 1025], 'single': [866, 2241, 2297, 3486], 'LSD.': [867], 'Similar': [868], 'ERT,': [870, 2847, 3291], 'normal': [871, 993, 2756], 'also': [873, 1024, 2427, 3248], 'provided': [876], 'precursor': [879], 'secreted': [882], 'circulation': [885], 'allograft': [887], 'transplanted': [889], 'cells': [890, 944, 1067], '(hematopoietic': [891], 'stem': [892, 910, 943], 'transplantation': [894, 912], '(HSCT))7Boelens': [895], 'Prasad': [897], 'VK': [898], 'Tolar': [899], 'J': [900, 1312, 1370, 1483, 1804, 2164, 3422, 3722, 4034], 'Wynn': [901], 'RF': [902], 'Peters': [903], 'C': [904, 1083, 3397, 3950], 'Current': [905, 2914], 'international': [906], 'perspectives': [907], 'hematopoietic': [909, 942], 'inherited': [914], 'disorders.Pediatr': [916], 'Clin': [917, 1586, 3012, 3036], 'North': [918], 'Am.': [919], '123-145Abstract': [922], 'Full': [923, 925, 1012, 1014, 2342, 2344, 2986, 2988, 3080, 3082, 3509, 3511, 3630, 3632, 3687, 3689, 3742, 3744], 'Text': [924, 926, 1013, 1015, 2343, 2345, 2987, 2989, 3081, 3083, 3510, 3512, 3631, 3633, 3688, 3690, 3743, 3745], 'PDF': [927, 1016, 2346, 2990, 3084, 3513, 3634, 3691, 3746], '(94)': [930], "patient's": [936, 997], 'own': [937], 'engineered': [938], 'cells.8Biffi': [939], 'Genetically-modified': [941], 'progeny': [947], 'widespread': [949], 'efficient': [951], 'delivery': [953, 1991], 'diseased': [955], 'sites:': [956], 'case': [958, 1718], 'disorders.Curr': [962], 'Gene': [963, 1002], 'Ther.': [964, 1008, 3683], '2012;': [965, 3014, 3148, 3739], '12:': [966, 2340], '381-388Crossref': [967], '(11)': [970], 'Similarly,': [973], 'gene': [975, 2227, 2242, 2298, 3167, 4022], 'mutation': [976], 'potentially': [978], 'corrected': [980], 'delivering': [982], 'wild-type': [984], 'copy': [985], 'direct': [988], 'synthesis': [990, 1032, 1874], 'cells.9Sands': [998], 'MS': [999], 'Davidson': [1000], 'BL': [1001], 'diseases.Mol': [1007], '13:': [1010, 3938], '839-849Abstract': [1011], '(207)': [1019], 'Alternative': [1022], 'strategies': [1023, 1320, 1378, 1491, 1812, 2172], 'reducing': [1030], '(i.e.,': [1035], 'reduction': [1037, 1049, 3164, 3889], 'two': [1041], 'drugs': [1042, 2895], 'currently': [1043, 2824], 'exist),10Platt': [1044], 'FM': [1045], 'Jeyakumar': [1046], 'Substrate': [1048], 'therapy.Acta': [1050], 'Paediatr': [1051, 2244, 2300], 'Suppl.': [1052, 2245, 2301], '2008;': [1053, 1302, 1667, 2983], '97:': [1054], '88-93Crossref': [1055], '(123)': [1058], 'enhancing': [1062], 'clearance': [1063], 'tissues,': [1069], 'manipulating': [1072], 'specific': [1073, 1970, 3239], 'pathways': [1075], '(such': [1076], 'those': [1078, 1599, 3307], 'vesicle': [1081], 'trafficking).11Spampanato': [1082], 'Feeney': [1084], 'E': [1085, 2234, 2290, 2326, 2623], 'Li': [1086], 'L': [1087, 1404, 3054, 3118, 3401], 'Cardone': [1088], 'Lim': [1090], 'JA': [1091, 1909], 'Annunziata': [1092], 'F': [1093, 1316, 1374, 1487, 1808, 2168], 'al.Transcription': [1095], 'factor': [1096], 'EB': [1097], '(TFEB)': [1098], 'target': [1103, 1971, 2873], 'Pompe': [1105, 3004, 3034, 3068, 3623, 3675], 'disease.EMBO': [1106], 'Mol': [1107, 1163, 1414, 1569, 2006, 2387, 3558], '2013;': [1109, 1232, 3504, 3560, 3627], '5:': [1110, 3040, 4038], '691-706Crossref': [1111], '(232)': [1114], 'focus': [1118], 'this': [1120, 1940, 1961], 'paper,': [1121], 'however,': [1122], 'pharmacological': [1124, 1157, 1189, 1241, 1330, 1388, 1501, 1822, 1847, 1919, 1963, 2000, 2032, 2109, 2182, 2801, 3292, 3322, 3370, 3492, 3550, 3960], 'small': [1126, 3204, 3874], 'molecules': [1127, 1258, 3205], 'protecting': [1136], 'them': [1137], 'premature': [1139, 1532, 1769, 2080], 'denaturation': [1140], 'degradation,': [1142, 1688, 2415], 'ultimately': [1144], 'levels': [1148, 1863, 2365], 'activity.12Parenti': [1150], 'Treating': [1152, 1995], 'chaperones:': [1158, 1848, 2001], 'concept': [1160, 2003, 2199, 2543], 'clinics.EMBO': [1162, 2005], '1:': [1166, 2009], '268-279Crossref': [1167, 2010], '(217)': [1170, 2013], 'Scholar,13Valenzano': [1172, 2015], 'KJ': [1173, 2016, 2093, 2785], 'Khanna': [1174, 1217, 2017, 2094, 2786], 'Powe': [1176, 2019, 2096, 2788], 'AC': [1177, 1310, 1368, 1481, 1802, 2020, 2097, 2162, 2789, 3864], 'Boyd': [1178, 2021, 2098, 2790], 'Lee': [1180, 1211, 2023, 2100, 2792], 'Flanagan': [1182, 2025, 2102, 2794], 'al.Identification': [1185, 2028, 2105, 2797], 'characterization': [1187, 2030, 2107, 2799], 'chaperones': [1190, 1223, 1331, 1389, 1434, 1502, 1526, 1823, 1920, 1964, 2033, 2110, 2183, 2802, 3202, 3293, 3323, 3354, 3961], 'correct': [1192, 1786, 2035, 2112, 2804], 'deficiencies': [1194, 1787, 2037, 2114, 2806], 'disorders.Assay': [1198, 2041, 2118, 2810], 'Drug': [1199, 2042, 2119, 2811], 'Dev': [1200, 2043, 2120, 2812], 'Technol.': [1201, 2044, 2121, 2813], '2011;': [1202, 2045, 2122, 2814], '9:': [1203, 2046, 2123, 2815], '213-235Crossref': [1204, 2047, 2124, 2816], '(125)': [1207, 2050, 2127, 2819], 'Scholar,14Boyd': [1209], 'RE': [1210], 'Rybczynski': [1213], 'P': [1214, 2619, 3590], 'Benjamin': [1215], 'ER': [1216, 1610, 1637, 1722, 1772, 2367, 2375, 2911], 'Wustman': [1219], 'BA': [1220], 'al.Pharmacological': [1222], 'therapeutics': [1225], 'diseases.J': [1229], 'Med': [1230, 2448], 'Chem.': [1231, 2449, 3782, 3851], '56:': [1233], '2705-2725Crossref': [1234], '(163)': [1237], 'Recently,': [1240], 'evaluated': [1252, 3326, 3338], 'clinic,': [1255], 'showing': [1259], 'promise.': [1261], 'balance': [1263], 'synthesis,': [1266, 1457], 'folding,': [1267, 1685], 'degradation': [1269, 1646, 1706, 1770, 2378], 'closely': [1272, 3258], 'monitored': [1273], 'highly': [1275], 'dynamic': [1276], 'process': [1277], 'critical': [1280], 'maintain': [1282], 'homeostasis,': [1285], 'i.e.,': [1286], 'proteostasis': [1287, 1298, 1333, 1391, 1504, 1825, 2185], '(Figure': [1288, 1870, 2515], '1).15Balch': [1289], 'WE': [1290], 'Morimoto': [1291], 'RI': [1292], 'Dillin': [1293], 'Kelly': [1295], 'JW': [1296], 'Adapting': [1297], 'intervention.Science.': [1301], '319:': [1303], '916-919Crossref': [1304], '(1748)': [1307], 'Scholar,16Muntau': [1309], 'Leandro': [1311, 1369, 1482, 1803, 2163], 'Staudigl': [1313, 1371, 1484, 1805, 2165], 'Mayer': [1315, 1373, 1486, 1807, 2167], 'Gersting': [1317, 1375, 1488, 1809, 2169], 'SW': [1318, 1376, 1489, 1810, 2170], 'Innovative': [1319, 1377, 1490, 1811, 2171], 'misfolding': [1324, 1382, 1495, 1539, 1816, 2176, 2463, 2549, 3925], 'errors': [1327, 1385, 1498, 1819, 2179], 'metabolism:': [1329, 1387, 1500, 1821, 2181], 'regulators.J': [1334, 1392, 1505, 1826, 2186], 'Inherit': [1335, 1393, 1506, 1544, 1827, 2187], 'Metab': [1336, 1394, 1507, 1545, 1588, 1828, 2188], 'Dis.': [1337, 1395, 1508, 1546, 1829, 2189, 3559, 4036], '2014;': [1338, 1396, 1509, 1830, 2190, 2450, 2558, 3684], '37:': [1339, 1397, 1510, 1831, 2191], '505-523Crossref': [1340, 1398, 1511, 1832, 2192], '(89)': [1343, 1401, 1514, 1835, 2195], 'Cells': [1346, 3557], 'evolved': [1348], 'control': [1351, 1408, 1639, 1660, 1724, 1984], 'organelles,': [1357], 'endoplasmic': [1360, 1411], 'reticulum': [1361], '(ER),': [1362], 'aid': [1364], 'processes.16Muntau': [1367], 'Scholar,17Ellgaard': [1403], 'Helenius': [1405], 'Quality': [1407], 'reticulum.Nat': [1412], 'Biol.': [1416, 1570, 2338], '2003;': [1417], '4:': [1418], '181-191Crossref': [1419], '(1672)': [1422], 'mechanisms': [1426, 1985], 'rely': [1427], 'classes': [1430], 'proteinaceous': [1432], 'molecular': [1433, 1525, 1628, 2381, 3929], 'folding': [1436, 1562, 1618, 2147], 'factors': [1437, 2730], '(e.g.,': [1438, 3162], 'heat-shock': [1439], 'proteins)': [1440], 'recognize': [1442], 'cotranslationally': [1444], 'interact': [1445], 'partially': [1448], 'folded,': [1449], 'aggregation-prone': [1450], 'structural': [1451], 'motifs': [1452], 'nascent': [1454, 1523, 1621], 'during': [1456], 'such': [1458, 2731], 'exposed': [1460], 'hydrophobic': [1461], 'regions,': [1462], 'regions': [1463], 'unstructured': [1465], 'polypeptide': [1466], 'sequence,': [1467], 'unpaired': [1469], 'cysteine': [1470], 'residues,': [1471], 'distinguish': [1473], 'stable,': [1474], 'native': [1475], 'conformations': [1476], 'unstable,': [1478], 'misfolded': [1479], 'conformations.16Muntau': [1480], 'Upon': [1517], 'recognition': [1518, 1753], 'binding': [1520], 'polypeptide,': [1524], 'conformation,': [1530], 'inhibit': [1531], 'misfolding,': [1533, 2410], 'prevent': [1535, 1755, 2579, 2714], 'aggregation.18Gregersen': [1536], 'N': [1537], 'Protein': [1538, 1658, 3924], 'pathogenesis': [1541], 'intervention.J': [1543], '29:': [1548], '456-470Crossref': [1549], '(71)': [1552], 'Scholar,19Hartl': [1554], 'FU': [1555], 'Hayer-Hartl': [1556], 'Converging': [1558], 'concepts': [1559], 'vivo.Nat': [1567], 'Struct': [1568], '16:': [1572, 3149], '574-581Crossref': [1573], '(841)': [1576], 'Scholar,20Vabulas': [1578], 'RM': [1579], 'Proteasome': [1580], 'biosynthesis.Curr': [1584], 'Opin': [1585, 2900], 'Nutr': [1587], 'Care.': [1589], '2007;': [1590, 1694, 3813], '10:': [1591, 2984], '24-31Crossref': [1592], '(17)': [1595], 'Only': [1598], 'correctly': [1603], 'folded': [1604, 1953], 'stable': [1606, 1896, 3254], 'exit': [1608, 1957], 'efficiently': [1611], 'traffic': [1613], 'lysosome.': [1616], 'If': [1617], 'fails': [1623], 'despite': [1624], 'action': [1626], 'recognized': [1634], 'system': [1640, 2877], 'aberrant': [1642], 'targeted': [1644], 'lysosome': [1650], 'proteasome.21Anelli': [1654], 'Sitia': [1656], 'early': [1663, 3179], 'secretory': [1664, 1759], 'pathway.EMBO': [1665], 'J.': [1666, 3812], '27:': [1668], '315-327Crossref': [1669], '(475)': [1672], 'Scholar,22Hebert': [1674], 'DN': [1675], 'Molinari': [1676], 'out': [1680], 'ER:': [1683], 'control,': [1687], 'related': [1690, 3107], 'human': [1691, 2537], 'diseases.Physiol': [1692], 'Rev.': [1693], '87:': [1695], '1377-1408Crossref': [1696], '(492)': [1699], 'latter,': [1704], 'ER-associated': [1705, 2370], 'involves': [1707], 'polyubiquination,': [1708], 'translocation': [1709], 'cytosol,': [1712], 'proteasomal': [1714], 'degradation.': [1715], 'recognizes': [1726], 'forms': [1728], 'enzymes': [1731, 1794, 1858, 1886, 2157, 2406, 3266, 3288], 'retain': [1733, 2158], 'catalytic': [1734, 2160], 'only': [1739], 'modestly': [1740], 'compromised': [1741], 'function,': [1742], 'due': [1743, 1767, 2854], 'slight': [1745], 'modifications': [1746], 'stability': [1749], 'conformation.': [1751], 'This': [1752, 2198, 2679, 2851], 'through': [1757, 1981, 3888], 'pathway': [1760], 'result': [1762, 1789, 2354, 2407], 'loss': [1764], 'aggregation.': [1773], 'Based': [1774], 'evolving': [1777], 'understanding': [1778], 'mechanisms,': [1781], 'emerged': [1796], '15': [1800], 'years.16Muntau': [1801], 'One': [1838], 'promising': [1842], 'advanced': [1844], 'utilizes': [1846], 'otherwise': [1856], 'unstable': [1857], 'total': [1861, 1976], '2).': [1871], 'occurs': [1875, 2505], 'neutral': [1878, 1898], 'pH': [1879, 1899, 1916], 'environment': [1880, 1904], 'ER.': [1883, 1959], 'As': [1884], 'hydrolases,': [1889], 'many': [1890, 2067, 2431], 'tend': [1891, 2088], 'thermodynamically': [1894], 'less': [1895, 1949], 'compared': [1900, 3268], 'low-pH': [1903], 'lysosomes.23Lieberman': [1906], 'RL': [1907], "D'aquino": [1908], 'Ringe': [1910], 'D': [1911, 2951, 3464, 3466, 3543, 3767, 3793, 3836], 'Petsko': [1912], 'GA': [1913], 'Effects': [1914], 'iminosugar': [1918], 'glycosidase': [1923], 'structure': [1924, 2361], 'stability.Biochemistry.': [1926], '48:': [1928], '4816-4827Crossref': [1929], '(121)': [1932], 'thermodynamic': [1941, 2149], 'instability': [1942], 'exacerbated,': [1945], 'consequently': [1947], 'even': [1948], 'properly': [1952], 'able': [1955], 'context,': [1962], 'enzyme,': [1972], 'increased': [1975], 'passage': [1980], 'ER,': [1988], 'subsequent': [1990], 'lysosomes.12Parenti': [1993], 'reasons,': [2057], 'considered': [2061, 2825], 'excellent': [2062], 'candidates': [2063], 'PCT.': [2065], 'identified': [2073, 2277], 'deletions,': [2078], 'insertions,': [2079], 'stop': [2081], 'codons,': [2082], 'splicing': [2084], 'mutations,': [2085], 'missense': [2086, 2133, 2284], 'common.13Valenzano': [2092], 'occur': [2135], 'outside': [2136], "enzyme's": [2138], 'active': [2139], 'site': [2140], 'negative': [2143], 'effects': [2144], 'efficiency,': [2148], 'stability,': [2150], 'trafficking,': [2153], 'although': [2154], 'properties.16Muntau': [2161], 'characterized': [2202, 2256], 'detail': [2204], 'example,': [2209, 2752], 'Gaucher': [2210, 2235, 2291, 2384, 2471, 2669, 2769, 3555], 'disease,': [2211, 2475, 4012], 'generally': [2212], 'thought': [2213], 'GBA1': [2226], 'encodes': [2229, 4024], 'glucocerebrosidase': [2230], '(GCase;': [2231], 'EC': [2232, 4029], '3.2.1.45),24Beutler': [2233], 'lessons': [2238, 2294], 'disorder.Acta': [2243, 2299], '95:': [2247, 2303], '103-109Crossref': [2248, 2304], '(57)': [2251, 2307], 'progressive': [2258], 'glucosylceramide': [2261], 'primarily': [2262], 'within': [2263], 'macrophages': [2264], 'liver,': [2267], 'bone': [2268], 'marrow,': [2269], 'spleen.': [2271], 'Among': [2272], '200': [2275], 'GBA1,': [2279], '2': [2281], 'N370S': [2287], 'L444P,24Beutler': [2289], 'retaining': [2310], '~30': [2311], '10–12%': [2313], 'residual': [2314, 2507, 2630, 2685, 2702], 'respectively.25Sawkar': [2317], 'AR': [2318], 'Adamski-Werner': [2319], 'SL': [2320], 'Cheng': [2321], 'WC': [2322], 'Wong': [2323], 'CH': [2324], 'Beutler': [2325], 'Zimmer': [2327], 'KP': [2328], 'al.Gaucher': [2330], 'disease-associated': [2331], 'glucocerebrosidases': [2332], 'show': [2333], 'mutation-dependent': [2334], 'chemical': [2335, 3799], 'chaperoning': [2336], 'profiles.Chem': [2337], '2005;': [2339, 2389], '1235-1244Abstract': [2341], '(168)': [2349], 'deleterious': [2356], 'changes': [2357], 'three-dimensional': [2360], 'retention': [2368, 2376, 2411], 'degradation.26Ron': [2371], 'I': [2372], 'Horowitz': [2373], 'basis': [2382], 'heterogeneity.Hum': [2386], 'Genet.': [2388, 2647], '14:': [2390], '2387-2398Crossref': [2391], '(240)': [2394], 'Evidence': [2397], 'encoding': [2403], 'ER/Golgi,': [2414], 'lack': [2416], 'appropriate': [2418], 'processing,': [2420], 'transport': [2423], 'lysosomes': [2425], 'reported': [2429, 2763, 2780], 'LSDs.27Parenti': [2433], 'Moracci': [2435], 'Fecarotta': [2437, 3656], 'S': [2438, 2621, 3657, 3664, 3718, 3724, 3921], 'diseases.Future': [2447], '6:': [2451], '1031-1045Crossref': [2452], '(43)': [2455, 2993], 'Since': [2458, 3333], 'relatively': [2465], 'like': [2470], 'potential': [2479, 3189, 3360], 'suitable': [2483], 'strategy': [2484], 'substantial': [2490], 'fraction': [2491], 'affected': [2493, 2840], 'patients.': [2494, 2699], 'it': [2498], 'speculated': [2501], 'if': [2506], 'falls': [2510], 'below': [2511], 'certain': [2513, 2521], 'threshold': [2514, 2572], '3)': [2516], 'above': [2519, 3161], 'level,': [2522], 'clinically': [2525, 3327], 'relevant': [2526], 'quantities': [2527], 'would': [2530, 3297], 'require': [2531], 'duration': [2533], 'exceeds': [2535], 'span.28Suzuki': [2539], 'Y': [2540, 3716], 'Emerging': [2541, 2894], 'diseases.Proc': [2550], 'Jpn': [2551], 'Acad': [2552], 'Ser': [2553], 'B': [2554, 3598, 3662], 'Phys': [2555], 'Biol': [2556, 3781, 3850], 'Sci.': [2557], '90:': [2559], '145-162Crossref': [2560], '(52)': [2563], 'It': [2566], 'assumed': [2569], '~10%': [2575], 'sufficient': [2577, 2592], 'restoration': [2585], '3–5%': [2587], 'cited': [2590], 'slow': [2594], 'down': [2595], 'progress.29Hopwood': [2598], 'Muller': [2600], 'Biochemical': [2602], 'discrimination': [2603], 'Hurler': [2605], 'Scheie': [2607], 'syndromes.Clin': [2608], 'Sci': [2609], '(Lond).': [2610], '1979;': [2611], '265-272Crossref': [2613], '(39)': [2616], 'Scholar,30Leinekugel': [2618], 'Michel': [2620], 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'tissues': [3224], 'brain,': [3227], 'diffuse': [3232], 'across': [3233], 'membranes,': [3234], 'achieving': [3235], 'concentrations': [3237], 'compartments.': [3241], 'Enhancement': [3242], 'lead': [3250], 'sustained': [3252], 'mimicking': [3259], 'natural': [3261], 'production': [3262], 'endogenous': [3265], 'weekly': [3270], 'biweekly': [3272], 'intermittent': [3278], 'fluctuating': [3280], 'unlike': [3285], 'used': [3289], 'nonimmunogenic': [3295], 'expected': [3300], 'issues': [3304], 'similar': [3305], 'described': [3308], 'ERTs.': [3314], 'fact,': [3316], 'safety': [3318], 'profiles': [3319], 'appear': [3329], 'acceptable.': [3332], '1999,': [3334], 'studies': [3341, 3757, 3917, 3946, 4002], 'Table': [3347], '1': [3348, 3554], 'provides': [3349], 'list': [3351], 'selected': [3353], 'shown': [3357], 'greatest': [3359], 'studies.Table': [3363], '1Current': [3364], 'development': [3367], 'select': [3369], 'chaperonesDiseaseTherapeutic': [3371], 'agent': [3372], '(route': [3373], 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'disease.Orphanet': [4033], 'Rare': [4035], '30Crossref': [4039], '(739)': [4042], 'α-Gal': [4047], 'prima': [4055]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2004580493', 'counts_by_year': [{'year': 2024, 'cited_by_count': 23}, {'year': 2023, 'cited_by_count': 20}, {'year': 2022, 'cited_by_count': 28}, {'year': 2021, 'cited_by_count': 25}, {'year': 2020, 'cited_by_count': 26}, {'year': 2019, 'cited_by_count': 19}, {'year': 2018, 'cited_by_count': 10}, {'year': 2017, 'cited_by_count': 30}, {'year': 2016, 'cited_by_count': 19}, {'year': 2015, 'cited_by_count': 6}], 'updated_date': '2024-12-14T07:10:47.818318', 'created_date': '2016-06-24'}