{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:30:04Z","timestamp":1791300604263,"version":"4.1.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2483,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2006,10]]},"DOI":"10.1086\/508068","type":"journal-article","created":{"date-parts":[[2006,9,8]],"date-time":"2006-09-08T16:08:34Z","timestamp":1157731714000},"page":"738-744","source":"Crossref","is-referenced-by-count":86,"title":["Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)"],"prefix":"10.1016","volume":"79","author":[{"given":"Xiaolian","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiwen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunqu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard D.","family":"Bagshaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael B.","family":"Tropak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Callahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Don J.","family":"Mahuran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/508068_bib8","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1111\/j.1432-1033.1978.tb12752.x","article-title":"A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients","volume":"92","author":"Kresse","year":"1978","journal-title":"Eur J Biochem"},{"key":"10.1086\/508068_bib9","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3421","article-title":"The mucopolysaccharides","author":"Neufeld","year":"2001"},{"key":"10.1086\/508068_bib10","doi-asserted-by":"crossref","first-page":"5185","DOI":"10.1073\/pnas.75.10.5185","article-title":"Sanfilippo syndrome type C: deficiency of acetyl-CoA:\u03b1-glucosaminide N-acetyltransferase in skin fibroblasts","volume":"75","author":"Klein","year":"1978","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/508068_bib11","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ymgme.2005.09.021","article-title":"An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC","volume":"87","author":"Ausseil","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1086\/508068_bib12","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1126\/science.3090688","article-title":"Genetic evidence for transmembrane acetylation by lysosomes","volume":"233","author":"Bame","year":"1986","journal-title":"Science"},{"key":"10.1086\/508068_bib13","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1042\/bj3080327","article-title":"Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase: kinetic characterization and mechanistic interpretation","volume":"308","author":"Meikle","year":"1995","journal-title":"Biochem J"},{"key":"10.1086\/508068_bib14","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1074\/mcp.M400128-MCP200","article-title":"A proteomic analysis of lysosomal integral membrane proteins reveals the diverse composition of the organelle","volume":"4","author":"Bagshaw","year":"2005","journal-title":"Mol Cell Proteomics"},{"key":"10.1086\/508068_bib15","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1586\/14789450.1.3.317","article-title":"Mass spectrometry-based quantitative proteomics","volume":"1","author":"Heck","year":"2004","journal-title":"Expert Rev Proteomics"},{"key":"10.1086\/508068_bib16","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.bbrc.2006.03.221","article-title":"The Arf-family protein, Arl8b, is involved in the spatial distribution of lysosomes","volume":"344","author":"Bagshaw","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/508068_bib17","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/BF00710299","article-title":"A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)","volume":"16","author":"Voznyi Ya","year":"1993","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/508068_bib18","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1139\/o85-031","article-title":"Discrimination of the isozymes of human placental hexosaminidase by kinetic parameter estimation","volume":"63","author":"Tommasini","year":"1985","journal-title":"Can J Biochem Cell Biol"},{"key":"10.1086\/508068_bib19","first-page":"497","article-title":"\u03b2-Hexosaminidase isozymes from cells co-transfected with \u03b1 and \u03b2 cDNA constructs: analysis of \u03b1 subunit missense mutation associated with the adult form of Tay-Sachs disease","volume":"53","author":"Brown","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/508068_bib20","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1021\/bi002018s","article-title":"Characterization of Glu and Asp residues in the active site of human \u03b2-hexosaminidase B","volume":"40","author":"Hou","year":"2001","journal-title":"Biochemistry"},{"key":"10.1086\/508068_bib21","doi-asserted-by":"crossref","first-page":"20488","DOI":"10.1016\/S0021-9258(17)30530-6","article-title":"The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2: localization on the peptide backbones","volume":"265","author":"Carlsson","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1086\/508068_bib22","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/370578a0","article-title":"Premature translational termination triggers mRNA decapping","volume":"370","author":"Muhlrad","year":"1994","journal-title":"Nature"},{"key":"10.1086\/508068_bib23","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707630857?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707630857?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T01:08:00Z","timestamp":1627780080000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707630857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["S0002929707630857"],"URL":"https:\/\/doi.org\/10.1086\/508068","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2006,10]]}}}