{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:05:52Z","timestamp":1790485552204,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 HD28607"],"award-info":[{"award-number":["R01 HD28607"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003181","name":"National Niemann-Pick Disease Foundation","doi-asserted-by":"publisher","award":["5R24 CA095823-04"],"award-info":[{"award-number":["5R24 CA095823-04"]}],"id":[{"id":"10.13039\/100003181","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003181","name":"National Niemann-Pick Disease Foundation","doi-asserted-by":"publisher","award":["DBI-9724504"],"award-info":[{"award-number":["DBI-9724504"]}],"id":[{"id":"10.13039\/100003181","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000001","name":"National Science Foundation","doi-asserted-by":"publisher","award":["1 S10 RR0 9145-01"],"award-info":[{"award-number":["1 S10 RR0 9145-01"]}],"id":[{"id":"10.13039\/100000001","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1016\/j.ymgme.2008.08.004","type":"journal-article","created":{"date-parts":[[2008,9,24]],"date-time":"2008-09-24T05:29:23Z","timestamp":1222234163000},"page":"152-162","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":50,"title":["Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models"],"prefix":"10.1016","volume":"95","author":[{"given":"Iwan","family":"Jones","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingxuan","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fourogh","family":"Katouzian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter I.","family":"Darroch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward H.","family":"Schuchman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2008.08.004_bib1","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3589","article-title":"Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies","author":"Schuchman","year":"2001"},{"key":"10.1016\/j.ymgme.2008.08.004_bib2","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1086\/345074","article-title":"The demographics, distribution of type B Niemann-Pick disease: novel mutations lead to new genotype\/phenotype correlations","volume":"71","author":"Simonaro","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.08.004_bib3","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0888-7543(92)90366-Z","article-title":"Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)","volume":"12","author":"Schuchman","year":"1992","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2008.08.004_bib4","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1016\/0006-291X(91)91697-B","article-title":"Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A","volume":"179","author":"Ferlinz","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2008.08.004_bib5","doi-asserted-by":"crossref","first-page":"3738","DOI":"10.1073\/pnas.88.9.3748","article-title":"Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients","volume":"88","author":"Levran","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2008.08.004_bib6","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1172\/JCI115380","article-title":"Niemann-Pick type B disease: identification of a single codon deletion in the acid sphingomyelinase gene and genotype\/phenotype correlations in type A and B patients","volume":"88","author":"Levran","year":"1991","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2008.08.004_bib7","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1182\/blood.V80.8.2081.2081","article-title":"Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish Type A Niemann-Pick disease patients","volume":"8","author":"Levran","year":"1992","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2008.08.004_bib8","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/humu.1380010111","article-title":"Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease","volume":"1","author":"Takahashi","year":"1992","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.08.004_bib9","doi-asserted-by":"crossref","first-page":"12552","DOI":"10.1016\/S0021-9258(18)42312-5","article-title":"Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms","volume":"267","author":"Takahashi","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.08.004_bib10","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/hmg\/2.2.205","article-title":"Identification of a 3\u2019 acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease","volume":"2","author":"Levran","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2008.08.004_bib11","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/humu.1380020414","article-title":"Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients","volume":"2","author":"Levran","year":"1993","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.08.004_bib12","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/humu.1380060412","article-title":"Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X","volume":"6","author":"Schuchman","year":"1995","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2008.08.004_bib13","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/BF01247328","article-title":"Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from Northern Africa","volume":"92","author":"Vanier","year":"1993","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.08.004_bib14","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1007\/BF01800234","article-title":"Bone marrow transplantation for Niemann-Pick type 1A disease","volume":"15","author":"Bayever","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2008.08.004_bib15","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1023\/B:BOLI.0000009950.81514.c8","article-title":"Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant","volume":"26","author":"Victor","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2008.08.004_bib16","doi-asserted-by":"crossref","first-page":"1988","DOI":"10.1096\/fj.00-0014com","article-title":"Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology","volume":"14","author":"Miranda","year":"2000","journal-title":"FASEB J."},{"key":"10.1016\/j.ymgme.2008.08.004_bib17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-006-0280-4","article-title":"New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy","volume":"121","author":"Beck","year":"2007","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.08.004_bib18","doi-asserted-by":"crossref","first-page":"3172","DOI":"10.1110\/ps.04966204","article-title":"A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase","volume":"13","author":"Seto","year":"2004","journal-title":"Protein Sci."},{"key":"10.1016\/j.ymgme.2008.08.004_bib19","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/S0003-2697(02)00629-2","article-title":"A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease","volume":"314","author":"He","year":"2003","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2008.08.004_bib20","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S0167-4838(99)00069-2","article-title":"Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cells","volume":"1432","author":"He","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2008.08.004_bib21","first-page":"681","article-title":"SOPMA: significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments","volume":"11","author":"Geourjon","year":"1995","journal-title":"Comput. Appl. Biosci."},{"key":"10.1016\/j.ymgme.2008.08.004_bib22","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1093\/bioinformatics\/15.5.413","article-title":"Improved performance in protein secondary structure prediction by inhomogeneous score combination","volume":"15","author":"Guermeur","year":"1999","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ymgme.2008.08.004_bib23","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/nar\/gkh454","article-title":"CD-Search: protein domain annotations on the fly","volume":"32","author":"Marchler-Bauer","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2008.08.004_bib24","doi-asserted-by":"crossref","first-page":"5.6.1","DOI":"10.1002\/0471250953.bi0506s15","article-title":"Comparative protein structure modelling using Modeller","volume":"15","author":"Eswar","year":"2006","journal-title":"Curr. Protoc. Bioinform."},{"key":"10.1016\/j.ymgme.2008.08.004_bib25","doi-asserted-by":"crossref","first-page":"8531","DOI":"10.1016\/S0021-9258(18)93007-3","article-title":"Human acid sphingomyelinase. Isolation, ucleotide sequence and expression of the full-length and alternatively spliced cDNAs","volume":"13","author":"Schuchman","year":"1991","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.08.004_bib26","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ng0795-288","article-title":"Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease","volume":"10","author":"Horinouchi","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2008.08.004_bib27","series-title":"Molecular Cloning. A Laboratory Manual","author":"Sambrook","year":"1989"},{"key":"10.1016\/j.ymgme.2008.08.004_bib28","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1194\/jlr.M500136-JLR200","article-title":"A lipid analogue that inhibits sphingomyelin hydrolysis, synthesis, increases ceramide, and leads to cell death","volume":"46","author":"Darroch","year":"2005","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2008.08.004_bib29","doi-asserted-by":"crossref","first-page":"7380","DOI":"10.1021\/bi060415i","article-title":"Competition between calnexin and BiP in the endoplasmic reticulum can lead to the folding or degradation of human thyroperoxidase","volume":"45","author":"Le Fourn","year":"2006","journal-title":"Biochemistry"},{"key":"10.1016\/j.ymgme.2008.08.004_bib30","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/S0168-1656(98)00070-4","article-title":"Expression of recombinant human acid sphingomyelinase in insect Sf21 cells: purification, processing and enzymatic characterization","volume":"63","author":"Bartelsen","year":"1998","journal-title":"J. Biotechnol."},{"key":"10.1016\/j.ymgme.2008.08.004_bib31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0014-5793(03)00330-2","article-title":"Lysenin, a unique sphingomyelin-binding protein","volume":"542","author":"Shakor","year":"2003","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ymgme.2008.08.004_bib32","first-page":"1193","article-title":"Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase","volume":"385","author":"Kolzer","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2008.08.004_bib33","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1006\/jmbi.1996.0354","article-title":"Mechanism of Fe(III)\u2013Zn(II) purple acid phosphatase based on crystal structures","volume":"259","author":"Klabunde","year":"1996","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2008.08.004_bib34","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1046\/j.1432-1033.2003.03435.x","article-title":"Human acid sphingomyelinase","volume":"270","author":"Lansmann","year":"2003","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ymgme.2008.08.004_bib35","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1093\/brain\/awm026","article-title":"Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation","volume":"130","author":"Mihaylova","year":"2007","journal-title":"Brain"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208002060?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208002060?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:18:28Z","timestamp":1761088708000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719208002060"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["S1096719208002060"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2008.08.004","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2008,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2008.08.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}