{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:57:17Z","timestamp":1787021837517,"version":"build-2736575974"},"reference-count":26,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2009,10,13]],"date-time":"2009-10-13T00:00:00Z","timestamp":1255392000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0007434","type":"journal-article","created":{"date-parts":[[2009,10,12]],"date-time":"2009-10-12T17:27:57Z","timestamp":1255368477000},"page":"e7434","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":73,"title":["Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C"],"prefix":"10.1371","volume":"4","author":[{"given":"Matthew","family":"Feldhammer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Durand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey V.","family":"Pshezhetsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2009,10,13]]},"reference":[{"key":"ref1","first-page":"3421","article-title":"The mucopolysaccharidoses <italic>in<\/italic> Scriver CR, Beaudet AL, Sly WS, Valle D, Editors.","author":"EF Neufeld","year":"2001"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF00441361","article-title":"Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III.","volume":"130","author":"C Bartsocas","year":"1979","journal-title":"Eur J Pediatr"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1007\/s10545-008-0838-5","article-title":"Sanfilippo syndrome: A mini-review.","volume":"31","author":"MJ Valstar","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/s00415-004-0368-5","article-title":"Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters.","volume":"251","author":"EG Berger-Plantinga","year":"2004","journal-title":"J Neurol"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders.","volume":"281","author":"PJ Meikle","year":"1999","journal-title":"JAMA"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","article-title":"Prevalence of lysosomal storage diseases in Portugal.","volume":"12","author":"R Pinto","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in The Netherlands.","volume":"105","author":"BJ Poorthuis","year":"1999","journal-title":"Hum Genet"},{"key":"ref8","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":"U Klein","year":"1978","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1399-0004.1981.tb01807.x","article-title":"Sanfilippo syndrome type C: assay for acetyl-CoA: \u03b1-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals.","volume":"20","author":"U Klein","year":"1981","journal-title":"Clin Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1126\/science.3090688","article-title":"Genetic evidence for transmembrane acetylation by lysosomes.","volume":"233","author":"KJ Bame","year":"1986","journal-title":"Science"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1086\/508294","article-title":"Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).","volume":"79","author":"M H\u0159eb\u00ed\u010dek","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1086\/508068","article-title":"Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).","volume":"79","author":"X Fan","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1002\/humu.20986","article-title":"Sanfilippo Syndrome Type C: Mutation spectrum in the heparan sulfate acetyl-CoA: A-glucosaminide N-acetyltransferase (HGSNAT) gene.","volume":"30(6)","author":"M Feldhammer","year":"2009","journal-title":"Hum Mut"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1038\/13732","article-title":"A generic protein purification method for protein complex characterization and proteome exploration.","volume":"17(10)","author":"G Rigaut","year":"1999","journal-title":"Nat Biotechnol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1006\/meth.2001.1183","article-title":"The tandem affinity purification (TAP) method: a general procedure of protein complex purification.","volume":"24(3)","author":"O Puig","year":"2001","journal-title":"Methods"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/0003-2697(89)90115-2","article-title":"Characterization of glycoproteins and their associated oligosaccharides throgh the use of endoglycosidases.","volume":"180(2)","author":"F Maley","year":"1989","journal-title":"Analytical biochemistry"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/s00439-006-0211-4","article-title":"The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients.","volume":"120(2)","author":"V Seyrantepe","year":"2006","journal-title":"Hum Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1023\/A:1010319001722","article-title":"The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.","volume":"24(2)","author":"N Gregersen","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ymgme.2007.09.011","article-title":"Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.","volume":"93","author":"GJ Ruijter","year":"2008","journal-title":"Mol Genet Metab"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0165-6147(03)00158-5","article-title":"A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity.","volume":"24","author":"J-Q Fan","year":"2003","journal-title":"Trends Pharmacol Sci"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/B:BOLI.0000031101.12838.c6","article-title":"Enzyme replacement and enhancement therapies for lysosomal diseases.","volume":"27(3)","author":"RJ Desnick","year":"2004","journal-title":"J Inherit Metab Dis"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1002\/humu.9488","article-title":"Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome).","volume":"28","author":"AO Fedele","year":"2007","journal-title":"Hum Mutat"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/pd.1970140104","article-title":"Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.","volume":"14(1)","author":"W He","year":"1994","journal-title":"Prenat Diagn"},{"key":"ref24","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":"J Ausseil","year":"2006","journal-title":"Mol Genet Metab"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/0003-2697(76)90527-3","article-title":"A rapid and sensitive method for the quatitation of microgram quantities of protein utilizing the principle of protein dye binding.","volume":"72","author":"MM Bradford","year":"1976","journal-title":"Anal Biochem"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"3258","DOI":"10.1093\/bioinformatics\/bth358","article-title":"TMRPres2D: high quality visual representation of transmembrane protein models.","volume":"20","author":"IC Spyropoulos","year":"2004","journal-title":"Bioinformatics"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0007434","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T10:20:46Z","timestamp":1540203646000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0007434"}},"subtitle":[],"editor":[{"given":"Raphael","family":"Schiffmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2009,10,13]]},"references-count":26,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2009,10,13]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0007434","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,13]]}}}