{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T19:32:54Z","timestamp":1784835174283,"version":"3.55.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,7,28]],"date-time":"2024-07-28T00:00:00Z","timestamp":1722124800000},"content-version":"am","delay-in-days":270,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100008272","name":"Novartis Pharmaceuticals Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["ZIA HD008989"],"award-info":[{"award-number":["ZIA HD008989"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["ZIA HD008988"],"award-info":[{"award-number":["ZIA HD008988"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001790","name":"Ara Parseghian Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001790","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":[[2023,11]]},"DOI":"10.1016\/j.ymgme.2023.107656","type":"journal-article","created":{"date-parts":[[2023,7,23]],"date-time":"2023-07-23T17:28:15Z","timestamp":1690133295000},"page":"107656","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1"],"prefix":"10.1016","volume":"140","author":[{"given":"Niamh X.","family":"Cawley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spencer","family":"Giddens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole M.","family":"Farhat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel A.","family":"Luke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katelin E.J.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hibaaq O.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An","family":"Dang Do","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry-Kravis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie M.","family":"Cologna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1\u20132","key":"10.1016\/j.ymgme.2023.107656_bb0005","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.ymgme.2022.07.015","article-title":"The transformation of drug development for the 21st century: time for a change","volume":"137","author":"Kakkis","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107656_bb0010","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13023-014-0195-4","article-title":"Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints","volume":"10","author":"Kakkis","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2023.107656_bb0015","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."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0020","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/gim.2015.25","article-title":"High incidence of unrecognized visceral\/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets","volume":"18","author":"Wassif","year":"2016","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0025","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-195802000-00001","article-title":"Niemann-Pick disease: a review of eighteen patients","volume":"37","author":"Crocker","year":"1958","journal-title":"Medicine (Baltimore)"},{"issue":"4","key":"10.1016\/j.ymgme.2023.107656_bb0030","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.ymgme.2019.02.004","article-title":"Evaluation of age of death in Niemann-Pick disease, type C: utility of disease support group websites to understand natural history","volume":"126","author":"Bianconi","year":"2019","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107656_bb0035","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/s00455-020-10145-8","article-title":"Characterization of dysphagia and longitudinal changes in swallowing function in adults with Niemann-Pick disease type C treated with Miglustat","volume":"36","author":"Lewis","year":"2021","journal-title":"Dysphagia"},{"issue":"5","key":"10.1016\/j.ymgme.2023.107656_bb0040","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1002\/jimd.12245","article-title":"Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: a large retrospective observational study","volume":"43","author":"Patterson","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"issue":"12","key":"10.1016\/j.ymgme.2023.107656_bb0045","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1001\/jamaneurol.2020.3241","article-title":"Association of miglustat with swallowing outcomes in Niemann-Pick disease, type C1","volume":"77","author":"Solomon","year":"2020","journal-title":"JAMA Neurol"},{"issue":"5","key":"10.1016\/j.ymgme.2023.107656_bb0050","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1074\/jbc.TM118.004165","article-title":"NPC intracellular cholesterol transporter 1 (NPC1)-mediated cholesterol export from lysosomes","volume":"294","author":"Pfeffer","year":"2019","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2023.107656_bb0055","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13023-015-0284-z","article-title":"Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study","volume":"10","author":"Patterson","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107656_bb0060","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1177\/0883073809344222","article-title":"Long-term miglustat therapy in children with Niemann-Pick disease type C","volume":"25","author":"Patterson","year":"2010","journal-title":"J. Child Neurol."},{"issue":"9","key":"10.1016\/j.ymgme.2023.107656_bb0065","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","article-title":"Miglustat for treatment of Niemann-pick C disease: a randomised controlled study","volume":"6","author":"Patterson","year":"2007","journal-title":"Lancet Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0070","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1186\/s13023-018-0844-0","article-title":"Miglustat in Niemann-Pick disease type C patients: a review","volume":"13","author":"Pineda","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"issue":"6","key":"10.1016\/j.ymgme.2023.107656_bb0075","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1002\/jimd.12428","article-title":"Efficacy and safety of arimoclomol in Niemann-Pick disease type C: results from a double-blind, randomised, placebo-controlled, multinational phase 2\/3 trial of a novel treatment","volume":"44","author":"Mengel","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"issue":"12","key":"10.1016\/j.ymgme.2023.107656_bb0080","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1056\/NEJMoa2204705","article-title":"Trial of antisense oligonucleotide tofersen for SOD1 ALS","volume":"387","author":"Miller","year":"2022","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107656_bb0085","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1080\/14737159.2018.1428089","article-title":"An update on diagnostic and prognostic biomarkers for traumatic brain injury","volume":"18","author":"Wang","year":"2018","journal-title":"Expert. Rev. Mol. Diagn."},{"issue":"8","key":"10.1016\/j.ymgme.2023.107656_bb0090","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1002\/acn3.51141","article-title":"UCHL1 from serum and CSF is a candidate biomarker for amyotrophic lateral sclerosis","volume":"7","author":"Li","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0095","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-Pick disease, type C","volume":"153B","author":"Yanjanin","year":"2010","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0100","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1186\/s13023-021-02115-6","article-title":"International consensus on clinical severity scale use in evaluating Niemann-Pick disease type C in paediatric and adult patients: results from a Delphi study","volume":"16","author":"Evans","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0105","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-021-01719-2","article-title":"Validation of the 5-domain Niemann-Pick type C clinical severity scale","volume":"16","author":"Patterson","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0110","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1186\/s13023-018-0880-9","article-title":"Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials","volume":"13","author":"Cortina-Borja","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107656_bb0115","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.11.017","article-title":"Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1","volume":"25","author":"Agrawal","year":"2023","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107656_bb0120","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.cca.2018.08.039","article-title":"The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency","volume":"486","author":"Deodato","year":"2018","journal-title":"Clin. Chim. Acta"},{"issue":"2","key":"10.1016\/j.ymgme.2023.107656_bb0125","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ymgme.2018.08.007","article-title":"Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots","volume":"126","author":"Jiang","year":"2019","journal-title":"Mol. Genet. Metab."},{"issue":"22","key":"10.1016\/j.ymgme.2023.107656_bb0130","doi-asserted-by":"crossref","first-page":"6022","DOI":"10.1093\/hmg\/ddu331","article-title":"Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)","volume":"23","author":"Tortelli","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0135","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s40364-023-00448-x","article-title":"Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1","volume":"11","author":"Campbell","year":"2023","journal-title":"Biomark. Res."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0140","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s10545-013-9610-6","article-title":"Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1","volume":"37","author":"Cologna","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"issue":"12","key":"10.1016\/j.ymgme.2023.107656_bb0145","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1093\/hmg\/ddy112","article-title":"Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention","volume":"27","author":"Cougnoux","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2023.107656_bb0150","doi-asserted-by":"crossref","DOI":"10.1002\/pmic.202200378","article-title":"A differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, type C1","author":"Li","year":"2023","journal-title":"Proteomics"},{"issue":"3","key":"10.1016\/j.ymgme.2023.107656_bb0155","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.11.017","article-title":"Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1","volume":"25","author":"Agrawal","year":"2022","journal-title":"Genet. Med."},{"issue":"20","key":"10.1016\/j.ymgme.2023.107656_bb0160","doi-asserted-by":"crossref","DOI":"10.3390\/jcm10204796","article-title":"Plasma neurofilament light (NfL) in patients affected by Niemann-Pick type C disease (NPCD)","volume":"10","author":"Dardis","year":"2021","journal-title":"J. Clin. Med."},{"issue":"16","key":"10.1016\/j.ymgme.2023.107656_bb0165","doi-asserted-by":"crossref","first-page":"2453","DOI":"10.1042\/BCJ20160082","article-title":"Ubiquitin C-terminal hydrolase L1 (UCH-L1): structure, distribution and roles in brain function and dysfunction","volume":"473","author":"Bishop","year":"2016","journal-title":"Biochem. J."},{"issue":"11","key":"10.1016\/j.ymgme.2023.107656_bb0170","doi-asserted-by":"crossref","first-page":"8362","DOI":"10.1016\/S0021-9258(17)37202-2","article-title":"N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis","volume":"269","author":"Platt","year":"1994","journal-title":"J. Biol. Chem."},{"issue":"4","key":"10.1016\/j.ymgme.2023.107656_bb0175","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1023\/A:1022575511354","article-title":"Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature","volume":"24","author":"Vanier","year":"1999","journal-title":"Neurochem. Res."},{"issue":"1\u20133","key":"10.1016\/j.ymgme.2023.107656_bb0180","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.bbalip.2004.08.011","article-title":"Consequences of NPC1 and NPC2 loss of function in mammalian neurons","volume":"1685","author":"Walkley","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"issue":"1","key":"10.1016\/j.ymgme.2023.107656_bb0185","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. R. Stat. Soc. Ser. B"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671922300286X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S109671922300286X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:13:24Z","timestamp":1735233204000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S109671922300286X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S109671922300286X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107656","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107656","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107656"}}