{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T02:16:13Z","timestamp":1767924973913,"version":"3.49.0"},"reference-count":127,"publisher":"Oxford University Press (OUP)","issue":"24","funder":[{"name":"National Institutes of Health Intramural Research Programs"},{"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\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1ZIAHG000068-15"],"award-info":[{"award-number":["1ZIAHG000068-15"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Wisconsin-Madison School of Medicine and Public Health","award":["3T32GM008692"],"award-info":[{"award-number":["3T32GM008692"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The rare, fatal neurodegenerative disorder Niemann-Pick disease type C1 (NPC1) arises from lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and premature death. The timing and severity of NPC1 clinical presentation is extremely heterogeneous. This study analyzed RNA-Seq data from 42 NPC1 patient-derived, primary fibroblast cell lines to determine transcriptional changes induced by treatment with 2-hydroxypropyl-\u03b2-cyclodextrin (HP\u03b2CD), a compound currently under investigation in clinical trials. A total of 485 HP\u03b2CD-responsive genes were identified. Pathway enrichment analysis of these genes showed significant involvement in cholesterol and lipid biosynthesis. Furthermore, immunohistochemistry of the cerebellum as well as measurements of plasma from Npc1m1N null mice treated with HP\u03b2CD and adeno-associated virus gene therapy suggests that one of the identified genes, GPNMB, may serve as a useful biomarker of treatment response in NPC1 disease. Overall, this large NPC1 patient-derived dataset provides a comprehensive foundation for understanding the genomic response to HP\u03b2CD treatment.<\/jats:p>","DOI":"10.1093\/hmg\/ddab194","type":"journal-article","created":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T19:09:00Z","timestamp":1626289740000},"page":"2456-2468","source":"Crossref","is-referenced-by-count":21,"title":["Transcriptome of HP\u03b2CD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics"],"prefix":"10.1093","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1125-1281","authenticated-orcid":false,"given":"Jorge L","family":"Rodriguez-Gil","sequence":"first","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"},{"name":"Medical Scientist Training Program, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI 53705, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura L","family":"Baxter","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn E","family":"Watkins-Chow","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas L","family":"Johnson","sequence":"additional","affiliation":[{"name":"Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristin D","family":"Davidson","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven R","family":"Carlson","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arturo A","family":"Incao","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"NISC Comparative Sequencing Program","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerri L","family":"Wallom","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole Y","family":"Farhat","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances M","family":"Platt","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan K","family":"Dale","sequence":"additional","affiliation":[{"name":"Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Forbes D","family":"Porter","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J","family":"Pavan","sequence":"additional","affiliation":[{"name":"Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,7,22]]},"reference":[{"key":"2021120506364965300_ref1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","article-title":"Niemann-Pick disease type C","volume":"64","author":"Vanier","year":"2003","journal-title":"Clin. 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Its successful use for the diagnosis of Niemann-Pick type C disease","volume":"437","author":"Boenzi","year":"2014","journal-title":"Clin. Chim. Acta"},{"key":"2021120506364965300_ref50","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.cca.2016.01.003","article-title":"Comprehensive evaluation of plasma 7-Ketocholesterol and Cholestan-3\u03b2,5\u03b1,6\u03b2-Triol in an Italian cohort of patients affected by Niemann-Pick disease due to NPC1 and SMPD1 mutations","volume":"455","author":"Romanello","year":"2016","journal-title":"Clin. Chim. Acta"},{"key":"2021120506364965300_ref51","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.jsbmb.2016.02.030","article-title":"Determination of serum cholestane-3\u03b2,5\u03b1,6\u03b2-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease","volume":"169","author":"Kannenberg","year":"2017","journal-title":"J. Steroid Biochem. Mol. 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