{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:41:30Z","timestamp":1791355290067,"version":"4.3.1"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4353,"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":[[2003,10]]},"DOI":"10.1002\/humu.10255","type":"journal-article","created":{"date-parts":[[2003,9,2]],"date-time":"2003-09-02T15:31:32Z","timestamp":1062516692000},"page":"313-325","source":"Crossref","is-referenced-by-count":189,"title":["Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of\n                    <i>PTC1<\/i>\n                    -like domains in\n                    <i>NPC1<\/i>"],"prefix":"10.1155","volume":"22","author":[{"given":"Walter D.","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick A.","family":"Lundquist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"Kraft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cate Walsh","family":"Vockley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela S.","family":"Karnes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc C.","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Snow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"10.1002\/humu.10255-BIB1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","article-title":"Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group","volume":"11","author":"Antonarakis","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10255-BIB2","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1046\/j.1523-1747.1998.00222.x","article-title":"Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome","volume":"110","author":"Aszterbaum","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.10255-BIB3","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1002\/humu.10016","article-title":"NPC1: complete genomic sequence, mutation analysis, and characterization of haplotypes","volume":"19","author":"Bauer","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10255-BIB4","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/hmg\/ddg025","article-title":"Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease","volume":"12","author":"Blom","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10255-BIB5","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1073\/pnas.55.2.366","article-title":"The metabolism of sphingomyelin. Evidence of an enzyme deficiency in Niemann-Pick disease","volume":"55","author":"Brady","year":"1966","journal-title":"Proc Nat Acad of Sci"},{"key":"10.1002\/humu.10255-BIB6","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1126\/science.277.5323.228","article-title":"Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis","volume":"277","author":"Carstea","year":"1997","journal-title":"Science"},{"key":"10.1002\/humu.10255-BIB7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-195802000-00001","article-title":"Niemann-Pick disease: a review of 18 patients","volume":"37","author":"Crocker","year":"1958","journal-title":"Medicine"},{"key":"10.1002\/humu.10255-BIB8","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1006\/geno.2000.6151","article-title":"Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1","volume":"65","author":"Davies","year":"2000","journal-title":"Genomics"},{"key":"10.1002\/humu.10255-BIB9","doi-asserted-by":"crossref","first-page":"24367","DOI":"10.1074\/jbc.M002184200","article-title":"Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein","volume":"275","author":"Davies","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.10255-BIB10","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1126\/science.290.5500.2295","article-title":"Transmembrane molecular pump activity of Niemann-Pick C1 protein","volume":"290","author":"Davies","year":"2000","journal-title":"Science"},{"key":"10.1002\/humu.10255-BIB11","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10255-BIB12","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/BF00441649","article-title":"International symposium on Niemann-Pick disease","volume":"140","author":"Elleder","year":"1983","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.10255-BIB13","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/nbt0597-422","article-title":"Genetic testing: the problems and the promise","volume":"15","author":"Eng","year":"1997","journal-title":"Nat Biotechnol"},{"key":"10.1002\/humu.10255-BIB14","doi-asserted-by":"crossref","first-page":"10325","DOI":"10.1073\/pnas.90.21.10325","article-title":"Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes","volume":"90","author":"Ganguly","year":"1993","journal-title":"Proc Natl Acad Sci"},{"key":"10.1002\/humu.10255-BIB15","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1086\/301931","article-title":"The Nova Scotia (Type D) form of Niemann-Pick Disease is caused by a G3097T transversion in NPC1","volume":"63","author":"Greer","year":"1998","journal-title":"Am J Hum Gen"},{"key":"10.1002\/humu.10255-BIB16","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1086\/302620","article-title":"Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain","volume":"65","author":"Greer","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10255-BIB17","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/A:1020151801060","article-title":"Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease","volume":"25","author":"Kaminski","year":"2002","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.10255-BIB18","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/00125817-200009000-00009","article-title":"ACMG recommendations for standards for interpretation of sequence variations","volume":"2","author":"Kazazian","year":"2000","journal-title":"Genet Med"},{"key":"10.1002\/humu.10255-BIB19","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/ng1193-274","article-title":"A mutation in CFTR produces different phenotypes depending on chromosomal background","volume":"5","author":"Kiesewetter","year":"1993","journal-title":"Nat Genet"},{"key":"10.1002\/humu.10255-BIB20","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/ana.10366","article-title":"Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1\/NPC2","volume":"52","author":"Kl\u00fcnemann","year":"2002","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.10255-BIB21","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/sj.ejhg.5200171","article-title":"Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols","volume":"6","author":"Markoff","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.10255-BIB22","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1097\/00125817-200109000-00003","article-title":"Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C","volume":"3","author":"Meiner","year":"2001","journal-title":"Genet Med"},{"key":"10.1002\/humu.10255-BIB23","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1086\/302626","article-title":"Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype","volume":"65","author":"Millat","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10255-BIB24","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1086\/320606","article-title":"Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop","volume":"68","author":"Millat","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10255-BIB25","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1086\/324068","article-title":"Niemann-Pick disease type C: spectrum of HE1 mutations and genotype\/phenotype correlations in the NPC2 group","volume":"69","author":"Millat","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10255-BIB26","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1006\/bbrc.1999.1070","article-title":"The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene","volume":"261","author":"Morris","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.10255-BIB27","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","article-title":"Identification of HE1 as the second gene in Niemann-Pick C disease","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science"},{"key":"10.1002\/humu.10255-BIB28","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","article-title":"Analysis of any point mutation in NA The amplification refractory mutation system (ARMS)","volume":"17","author":"Newton","year":"1989","journal-title":"Nuc Acid Res"},{"key":"10.1002\/humu.10255-BIB29","doi-asserted-by":"crossref","first-page":"1114","DOI":"10.1093\/clinchem\/43.7.1114","article-title":"Methods for detection of point mutations: performance and quality assessment","volume":"43","author":"Nollau","year":"1997","journal-title":"Clin Chem"},{"key":"10.1002\/humu.10255-BIB30","first-page":"221","article-title":"Multiplex CSGE: a universal mutation screening method","volume":"2","author":"Park","year":"2000","journal-title":"J Molec Diagnostics"},{"key":"10.1002\/humu.10255-BIB31","first-page":"3611","volume-title":"The metabolic and molecular bases of inherited disease, 8th ed","author":"Patterson","year":"2001"},{"key":"10.1002\/humu.10255-BIB32","doi-asserted-by":"crossref","first-page":"2772","DOI":"10.1016\/S0021-9258(17)35852-0","article-title":"The cholesterol storage disorder of the mutant BALB\/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease","volume":"261","author":"Pentchev","year":"1986","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.10255-BIB33","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s004390100531","article-title":"Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations","volume":"109","author":"Ribeiro","year":"2001","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10255-BIB34","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1086\/320599","article-title":"Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1","volume":"68","author":"Sun","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10255-BIB35","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1194\/jlr.M200203-JLR200","article-title":"Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts","volume":"43","author":"Tarugi","year":"2002","journal-title":"J Lipid Res"},{"key":"10.1002\/humu.10255-BIB36","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/BF01800716","article-title":"Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media","volume":"12","author":"Thomas","year":"1989","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.10255-BIB37","first-page":"118","article-title":"Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis","volume":"58","author":"Vanier","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10255-BIB38","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1750-3639.1998.tb00143.x","article-title":"Recent advances in elucidating Niemann-Pick C disease","volume":"8","author":"Vanier","year":"1998","journal-title":"Brain Pathol"},{"key":"10.1002\/humu.10255-BIB39","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1006\/excr.2000.4976","article-title":"Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a \u201ccysteine-rich\u201d loop","volume":"259","author":"Watari","year":"2000","journal-title":"Exp Cell Res"},{"key":"10.1002\/humu.10255-BIB40","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1001\/archpedi.1977.02120220021002","article-title":"Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes","volume":"131","author":"Wenger","year":"1977","journal-title":"Am J Dis Child"},{"key":"10.1002\/humu.10255-BIB41","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s004399900059","article-title":"NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C","volume":"105","author":"Yamamoto","year":"1999","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10255-BIB42","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1136\/jmg.37.9.707","article-title":"Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts","volume":"37","author":"Yamamoto","year":"2000","journal-title":"J Med Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10255","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T11:31:07Z","timestamp":1734089467000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10255","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10]]}}}