{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T05:26:24Z","timestamp":1772774784971,"version":"3.50.1"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"17","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,9,1]]},"DOI":"10.1093\/hmg\/ddt206","type":"journal-article","created":{"date-parts":[[2013,5,11]],"date-time":"2013-05-11T01:17:00Z","timestamp":1368235020000},"page":"3508-3523","source":"Crossref","is-referenced-by-count":29,"title":["Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann\u2013Pick disease, type C1"],"prefix":"10.1093","volume":"22","author":[{"given":"Rao","family":"Fu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher A.","family":"Wassif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole M.","family":"Yanjanin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn E.","family":"Watkins-Chow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura L.","family":"Baxter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Art","family":"Incao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Liscum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohini","family":"Sidhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally","family":"Firnkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel S.","family":"Ory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J.","family":"Pavan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,5,10]]},"reference":[{"key":"key\n\t\t\t\t20170522145145_DDT206C1","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann-Pick disease type C","volume":"5","author":"Vanier","year":"2010","journal-title":"Orphanet. J. Rare Dis."},{"key":"key\n\t\t\t\t20170522145145_DDT206C2","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":"key\n\t\t\t\t20170522145145_DDT206C3","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1126\/science.290.5500.2298","article-title":"Identification of HE1 as the second gene of Niemann-Pick C disease","volume":"290","author":"Naureckiene","year":"2000","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522145145_DDT206C4","doi-asserted-by":"crossref","first-page":"5886","DOI":"10.1073\/pnas.0308456101","article-title":"Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport","volume":"101","author":"Sleat","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522145145_DDT206C5","doi-asserted-by":"crossref","first-page":"15223","DOI":"10.1073\/pnas.0808256105","article-title":"NPC1\/NPC2 function as a tag team duo to mobilize cholesterol","volume":"105","author":"Subramanian","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522145145_DDT206C6","doi-asserted-by":"crossref","first-page":"15287","DOI":"10.1073\/pnas.0807328105","article-title":"NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes","volume":"105","author":"Infante","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522145145_DDT206C7","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1111\/j.1471-4159.2010.06976.x","article-title":"Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches","volume":"116","author":"Rosenbaum","year":"2011","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t20170522145145_DDT206C8","doi-asserted-by":"crossref","first-page":"25517","DOI":"10.1074\/jbc.M302588200","article-title":"NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols","volume":"278","author":"Frolov","year":"2003","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145145_DDT206C9","doi-asserted-by":"crossref","first-page":"6245","DOI":"10.1074\/jbc.272.10.6245","article-title":"Peroxisomal impairment in Niemann\u2013Pick type C disease","volume":"272","author":"Schedin","year":"1997","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145145_DDT206C10","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/nm.1876","article-title":"Niemann\u2013Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium","volume":"14","author":"Lloyd-Evans","year":"2008","journal-title":"Nat. Med."},{"key":"key\n\t\t\t\t20170522145145_DDT206C11","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/ncomms1735","article-title":"Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release","volume":"3","author":"Shen","year":"2012","journal-title":"Nat. Commun."},{"key":"key\n\t\t\t\t20170522145145_DDT206C12","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/nm1073","article-title":"Niemann\u2013Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone","volume":"10","author":"Griffin","year":"2004","journal-title":"Nat. Med."},{"key":"key\n\t\t\t\t20170522145145_DDT206C13","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/S0014-4886(03)00345-5","article-title":"Postnatal development of inflammation in a murine model of Niemann\u2013Pick type C disease: immunohistochemical observations of microglia and astroglia","volume":"184","author":"Baudry","year":"2003","journal-title":"Exp. Neurol."},{"key":"key\n\t\t\t\t20170522145145_DDT206C14","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ymgme.2004.08.017","article-title":"Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann\u2013Pick type C disease","volume":"84","author":"Wu","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"key\n\t\t\t\t20170522145145_DDT206C15","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.nbd.2010.09.008","article-title":"Oxidative stress activates the c-Abl\/p73 proapoptotic pathway in Niemann\u2013Pick type C neurons","volume":"41","author":"Klein","year":"2011","journal-title":"Neurobiol. Dis."},{"key":"key\n\t\t\t\t20170522145145_DDT206C16","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.ymgme.2010.06.018","article-title":"Oxidative stress in Niemann\u2013Pick disease, type C","volume":"101","author":"Fu","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"key\n\t\t\t\t20170522145145_DDT206C17","doi-asserted-by":"crossref","first-page":"205713","DOI":"10.1155\/2012\/205713","article-title":"Oxidative stress: a pathogenic mechanism for niemann-pick type C disease","volume":"2012","author":"V\u00e1zquez","year":"2012","journal-title":"Oxid. Med. Cell Longev."},{"key":"key\n\t\t\t\t20170522145145_DDT206C18","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1126\/science.277.5323.232","article-title":"Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene","volume":"277","author":"Loftus","year":"1997","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522145145_DDT206C19","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1002\/hep.22327","article-title":"In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease","volume":"47","author":"Rimkunas","year":"2008","journal-title":"Hepatology"},{"key":"key\n\t\t\t\t20170522145145_DDT206C20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0166-4328(01)00380-1","article-title":"Cognitive deficit and development of motor impairment in a mouse model of Niemann-Pick type C disease","volume":"132","author":"V\u00f5ikar","year":"2002","journal-title":"Behav. Brain Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C21","doi-asserted-by":"crossref","first-page":"5784","DOI":"10.1016\/S0021-9258(18)91082-3","article-title":"A genetic storage disorder in BALB\/C mice with a metabolic block in esterification of exogenous cholesterol","volume":"259","author":"Pentchev","year":"1984","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145145_DDT206C22","first-page":"140","article-title":"Lysosome lipid storage disorder in NCTR-BALB\/c mice. I. Description of the disease and genetics","volume":"108","author":"Morris","year":"1982","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170522145145_DDT206C23","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1093\/jnen\/59.12.1106","article-title":"Cholesterol is sequestered in the brains of mice with Niemann\u2013Pick type C disease but turnover is increased","volume":"59","author":"Xie","year":"2000","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"key\n\t\t\t\t20170522145145_DDT206C24","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/jnen\/60.1.49","article-title":"Neurons in Niemann\u2013Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations","volume":"60","author":"Zervas","year":"2001","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"key\n\t\t\t\t20170522145145_DDT206C25","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1503\/jpn.100057","article-title":"N-Acetylcysteine in psychiatry: current therapeutic evidence and potential mechanisms of action","volume":"36","author":"Dean","year":"2011","journal-title":"J. Psychiatry Neurosci."},{"key":"key\n\t\t\t\t20170522145145_DDT206C26","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1100\/tsw.2010.104","article-title":"Thiol redox transitions in cell signaling: a lesson from N-acetylcysteine","volume":"10","author":"Parasassi","year":"2010","journal-title":"Sci. World J."},{"key":"key\n\t\t\t\t20170522145145_DDT206C27","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.2146\/ajhp060050","article-title":"Comparison of oral and i.v. acetylcysteine in the treatment of acetaminophen poisoning","volume":"63","author":"Kanter","year":"2006","journal-title":"Am. J. Health Syst. Pharm."},{"key":"key\n\t\t\t\t20170522145145_DDT206C28","first-page":"265","article-title":"N-acetylcysteine: multiple clinical applications","volume":"80","author":"Millea","year":"2009","journal-title":"Am. Fam. Physician"},{"key":"key\n\t\t\t\t20170522145145_DDT206C29","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s11745-009-3305-7","article-title":"Cholesterol synthesis inhibitor U18666A and the role of sterol metabolism and trafficking in numerous pathophysiological processes","volume":"44","author":"Cenedella","year":"2009","journal-title":"Lipids"},{"key":"key\n\t\t\t\t20170522145145_DDT206C30","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1111\/j.1471-4159.2006.03958.x","article-title":"Chronic exposure to U18666A is associated with oxidative stress in cultured murine cortical neurons","volume":"98","author":"Koh","year":"2006","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t20170522145145_DDT206C31","doi-asserted-by":"crossref","first-page":"3786","DOI":"10.1111\/j.1582-4934.2008.00493.x","article-title":"Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone","volume":"13","author":"Zampieri","year":"2009","journal-title":"J. Cell. Mol. Med."},{"key":"key\n\t\t\t\t20170522145145_DDT206C32","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.cmet.2006.07.006","article-title":"Mitochondrial free cholesterol loading sensitizes to TNF- and Fas-mediated steatohepatitis","volume":"4","author":"Mar\u00ed","year":"2006","journal-title":"Cell Metab."},{"key":"key\n\t\t\t\t20170522145145_DDT206C33","first-page":"2281","article-title":"Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking","volume":"118","author":"Zhang","year":"2008","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170522145145_DDT206C34","doi-asserted-by":"crossref","first-page":"e47845","DOI":"10.1371\/journal.pone.0047845","article-title":"Quantitative proteomic analysis of niemann-pick disease, type c1 cerebellum identifies protein biomarkers and provides pathological insight","volume":"7","author":"Cologna","year":"2012","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522145145_DDT206C35","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijdevneu.2012.07.002","article-title":"Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy","author":"Ribas","year":"2012","journal-title":"Int. J. Dev. Neurosci."},{"key":"key\n\t\t\t\t20170522145145_DDT206C36","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1194\/jlr.D015735","article-title":"A sensitive and specific LC-MS\/MS method for rapid diagnosis of Niemann\u2013Pick C1 disease from human plasma","volume":"52","author":"Jiang","year":"2011","journal-title":"J. Lipid Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C37","doi-asserted-by":"crossref","first-page":"56ra81","DOI":"10.1126\/scitranslmed.3001417","article-title":"Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann\u2013Pick C1 disease","volume":"2","author":"Porter","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"key\n\t\t\t\t20170522145145_DDT206C38","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/dds193","article-title":"Microarray expression analysis and identification of serum biomarkers for Niemann\u2013Pick disease, type C1","author":"Cluzeau","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522145145_DDT206C39","doi-asserted-by":"crossref","first-page":"e48273","DOI":"10.1371\/journal.pone.0048273","article-title":"Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder","volume":"7","author":"Alam","year":"2012","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522145145_DDT206C40","doi-asserted-by":"crossref","first-page":"e19","DOI":"10.1371\/journal.pone.0000019","article-title":"Clues to neuro-degeneration in Niemann\u2013Pick type C disease from global gene expression profiling","volume":"1","author":"Reddy","year":"2006","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522145145_DDT206C41","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.brainres.2010.02.019","article-title":"Abnormal gene expression in cerebellum of Npc1-\/- mice during postnatal development","volume":"1325","author":"Liao","year":"2010","journal-title":"Brain Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C42","doi-asserted-by":"crossref","first-page":"2946","DOI":"10.1093\/hmg\/dds126","article-title":"Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C","volume":"21","author":"Lopez","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522145145_DDT206C43","doi-asserted-by":"crossref","first-page":"e28777","DOI":"10.1371\/journal.pone.0028777","article-title":"Alteration of gene expression profile in Niemann\u2013Pick type C mice correlates with tissue damage and oxidative stress","volume":"6","author":"V\u00e1zquez","year":"2011","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522145145_DDT206C44","doi-asserted-by":"crossref","first-page":"e6951","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann\u2013Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression","volume":"4","author":"Davidson","year":"2009","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522145145_DDT206C45","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1073\/pnas.0810895106","article-title":"Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-\/- mouse","volume":"106","author":"Liu","year":"2009","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522145145_DDT206C46","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1194\/jlr.M000257","article-title":"Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid","volume":"51","author":"Liu","year":"2010","journal-title":"J. Lipid Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C47","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1203\/PDR.0b013e3181ee4dd2","article-title":"Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann\u2013Pick type C1 mouse and markedly prolongs life","volume":"68","author":"Ramirez","year":"2010","journal-title":"Pediatr. Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C48","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1177\/0883073809344222","article-title":"Long-term miglustat therapy in children with Niemann\u2013Pick disease type C","volume":"25","author":"Patterson","year":"2010","journal-title":"J. Child Neurol."},{"key":"key\n\t\t\t\t20170522145145_DDT206C49","doi-asserted-by":"crossref","first-page":"2848","DOI":"10.1002\/jnr.21730","article-title":"Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-\/- mice","volume":"86","author":"Zhang","year":"2008","journal-title":"J. Neurosci. Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C50","doi-asserted-by":"crossref","first-page":"249","DOI":"10.2174\/1567205053585855","article-title":"Pilot study of the reducing effect on amyloidosis in vivo by three FDA pre-approved drugs via the Alzheimer's APP 5\u2032 untranslated region","volume":"2","author":"Tucker","year":"2005","journal-title":"Curr. Alzheimer Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C51","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1212\/WNL.57.8.1515","article-title":"Controlled trial of N-acetylcysteine for patients with probable Alzheimer's disease","volume":"57","author":"Adair","year":"2001","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522145145_DDT206C52","doi-asserted-by":"crossref","first-page":"e12333","DOI":"10.1371\/journal.pone.0012333","article-title":"Oral N-acetyl-cysteine attenuates loss of dopaminergic terminals in alpha-synuclein overexpressing mice","volume":"5","author":"Clark","year":"2010","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170522145145_DDT206C53","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1002\/jnr.20107","article-title":"Systemic administration of N-acetylcysteine protects dopaminergic neurons against 6-hydroxydopamine-induced degeneration","volume":"76","author":"Mu\u00f1oz","year":"2004","journal-title":"J. Neurosci. Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C54","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/sj.bjp.0703421","article-title":"Beneficial effects of N-acetylcysteine on ischaemic brain injury","volume":"130","author":"Cuzzocrea","year":"2000","journal-title":"Br. J. Pharmacol."},{"key":"key\n\t\t\t\t20170522145145_DDT206C55","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/hep.23484","article-title":"N-acetylcysteine on its way to a broader application in patients with acute liver failure","volume":"51","author":"Koch","year":"2010","journal-title":"Hepatology"},{"key":"key\n\t\t\t\t20170522145145_DDT206C56","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1089\/jir.1993.13.279","article-title":"N-acetyl cysteine enhances the response to interferon-alpha in chronic hepatitis C: a pilot study","volume":"13","author":"Beloqui","year":"1993","journal-title":"J. Interferon Res."},{"key":"key\n\t\t\t\t20170522145145_DDT206C57","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1046\/j.1471-4159.2003.01580.x","article-title":"The antioxidants alpha-lipoic acid and N-acetylcysteine reverse memory impairment and brain oxidative stress in aged SAMP8 mice","volume":"84","author":"Farr","year":"2003","journal-title":"J. Neurochem."},{"key":"key\n\t\t\t\t20170522145145_DDT206C58","doi-asserted-by":"crossref","first-page":"4042","DOI":"10.1523\/JNEUROSCI.18-11-04042.1998","article-title":"Prevention of PC12 cell death by N-acetylcysteine requires activation of the Ras pathway","volume":"18","author":"Yan","year":"1998","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522145145_DDT206C59","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1750-1172-8-12","article-title":"Disease and patient characteristics in NP-C patients: findings from an international disease registry","volume":"8","author":"Patterson","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"key\n\t\t\t\t20170522145145_DDT206C60","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.ymgme.2004.12.009","article-title":"Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith\u2013Lemli\u2013Opitz syndrome fibroblasts","volume":"85","author":"Wassif","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"key\n\t\t\t\t20170522145145_DDT206C61","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J. Royal Stat. Soc. B"},{"key":"key\n\t\t\t\t20170522145145_DDT206C62","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/ajmg.b.30969","article-title":"Linear clinical progression, independent of age of onset, in Niemann\u2013Pick disease, type C","volume":"153B","author":"Yanjanin","year":"2010","journal-title":"Am. J. Med. Genet. B. Neuropsychiatr. Genet."},{"key":"key\n\t\t\t\t20170522145145_DDT206C63","doi-asserted-by":"crossref","first-page":"e23525","DOI":"10.1371\/journal.pone.0023525","article-title":"OASIS: online application for the survival analysis of lifespan assays performed in aging research","volume":"6","author":"Yang","year":"2011","journal-title":"PLoS ONE"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/17\/3508\/17259977\/ddt206.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T13:46:16Z","timestamp":1715348776000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,10]]},"references-count":63,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2013,5,10]]},"published-print":{"date-parts":[[2013,9,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt206","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5,10]]}}}