{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:02:39Z","timestamp":1771002159542,"version":"3.50.1"},"reference-count":26,"publisher":"Hindawi Limited","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3895,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2005,7]]},"DOI":"10.1002\/humu.20173","type":"journal-article","created":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T21:16:46Z","timestamp":1117833406000},"page":"20-28","source":"Crossref","is-referenced-by-count":27,"title":["Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations"],"prefix":"10.1155","volume":"26","author":[{"given":"Karim","family":"Chikh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9bastien","family":"Vey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie T.","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilles","family":"Millat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2005]]},"reference":[{"key":"10.1002\/humu.20173-BIB1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/hmg\/ddg025","volume":"12","author":"Blom","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20173-BIB2","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.277.5323.228","volume":"277","author":"Carstea","year":"1997","journal-title":"Science"},{"key":"10.1002\/humu.20173-BIB3","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.ymgme.2004.06.013","volume":"83","author":"Chikh","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.20173-BIB4","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1073\/pnas.0437840100","volume":"100","author":"Friedland","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20173-BIB5","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1086\/302620","volume":"65","author":"Greer","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20173-BIB6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/mgme.1999.2882","volume":"68","author":"Higgins","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.20173-BIB7","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/ana.10366","volume":"52","author":"Kl\u00fcnemann","year":"2002","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.20173-BIB8","doi-asserted-by":"crossref","first-page":"2518","DOI":"10.1073\/pnas.0530027100","volume":"100","author":"Ko","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20173-BIB9","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1086\/324068","volume":"69","author":"Millat","year":"2001a","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20173-BIB10","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1086\/320606","volume":"68","author":"Millat","year":"2001b","journal-title":"Am J Hum Genet;"},{"key":"10.1002\/humu.20173-BIB11","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science"},{"key":"10.1002\/humu.20173-BIB12","doi-asserted-by":"crossref","first-page":"9627","DOI":"10.1074\/jbc.274.14.9627","volume":"274","author":"Neufeld","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20173-BIB13","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/S1388-1981(99)00070-0","volume":"1438","author":"Okamura","year":"1999","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.20173-BIB14","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/humu.10255","volume":"22","author":"Park","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20173-BIB15","first-page":"3611","volume-title":"The metabolic and molecular bases of inherited disease","author":"Patterson","year":"2001","unstructured":"2001. Niemann-Pick disease type C: a lipid trafficking disorder. In: editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw Hill. p 3611-3634."},{"key":"10.1002\/humu.20173-BIB16","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s004390100531","volume":"109","author":"Ribeiro","year":"2001","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20173-BIB17","doi-asserted-by":"crossref","first-page":"5886","DOI":"10.1073\/pnas.0308456101","volume":"101","author":"Sleat","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20173-BIB18","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1136\/jmg.31.4.317","volume":"31","author":"Steinberg","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20173-BIB19","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1086\/320599","volume":"68","author":"Sun","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20173-BIB20","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/0925-4439(91)90069-L","volume":"1096","author":"Vanier","year":"1991","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.20173-BIB21","series-title":"Handbook of c","first-page":"133","volume-title":"Neurodystrophies and neurolipidoses","author":"Vanier","year":"1996","unstructured":"1996. Niemann-Pick diseases. In: editor. Neurodystrophies and neurolipidoses. Handbook of clinical neurology, vol. 66. Amsterdam: Elsevier Science. p. 133-162."},{"key":"10.1002\/humu.20173-BIB22","first-page":"118","volume":"58","author":"Vanier","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20173-BIB23","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1750-3639.1998.tb00143.x","volume":"8","author":"Vanier","year":"1998","journal-title":"Brain Pathol"},{"key":"10.1002\/humu.20173-BIB24","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","volume":"64","author":"Vanier","year":"2003","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20173-BIB25","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.bbalip.2004.08.007","volume":"1685","author":"Vanier","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.20173-BIB26","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1651-2227.2003.tb00224.x","volume":"92","author":"Zhang","year":"2003","journal-title":"Acta Paediatr Suppl"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20173","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20173","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:16Z","timestamp":1672332736000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,7]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20173","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}