{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:48:47Z","timestamp":1787021327569,"version":"build-2736575974"},"reference-count":54,"publisher":"The Company of Biologists","issue":"9","license":[{"start":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T00:00:00Z","timestamp":1599264000000},"content-version":"vor","delay-in-days":752,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["ZIA HD000139"],"award-info":[{"award-number":["ZIA HD000139"]}],"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","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in NPC1. NPC1 is characterized by abnormal accumulation of unesterified cholesterol and glycolipids in late endosomes and lysosomes. Common signs include neonatal jaundice, hepatosplenomegaly, cerebellar ataxia, seizures and cognitive decline. Both mouse and feline models of NPC1 mimic the disease progression in humans and have been used in preclinical studies of 2-hydroxypropyl-\u03b2-cyclodextrin (2HP\u03b2CD; VTS-270), a drug that appeared to slow neurological progression in a Phase 1\/2 clinical trial. However, there remains a need to identify additional therapeutic agents. High-throughput drug screens have been useful in identifying potential therapeutic compounds; however, current preclinical testing is time and labor intensive. Thus, development of a high-capacity in vivo platform suitable for screening candidate drugs\/compounds would be valuable for compound optimization and prioritizing subsequent in vivo testing. Here, we generated and characterize two zebrafish npc1-null mutants using CRISPR\/Cas9-mediated gene targeting. The npc1 mutants model both the early liver and later neurological disease phenotypes of NPC1. LysoTracker staining of npc1 mutant larvae was notable for intense staining of lateral line neuromasts, thus providing a robust in vivo screen for lysosomal storage. As a proof of principle, we were able to show that treatment of the npc1 mutant larvae with 2HP\u03b2CD significantly reduced neuromast LysoTracker staining. These data demonstrate the potential value of using this zebrafish NPC1 model for efficient and rapid in vivo optimization and screening of potential therapeutic compounds.<\/jats:p>\n                  <jats:p>This article has an associated First Person interview with the first author of the paper.<\/jats:p>","DOI":"10.1242\/dmm.034165","type":"journal-article","created":{"date-parts":[[2018,8,15]],"date-time":"2018-08-15T09:05:45Z","timestamp":1534323945000},"source":"Crossref","is-referenced-by-count":45,"title":["Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for\n                    <i>in vivo<\/i>\n                    screening of candidate therapeutic compounds"],"prefix":"10.1242","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7172-2102","authenticated-orcid":false,"given":"Wei-Chia","family":"Tseng","sequence":"first","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 1 Section on Molecular Dysmorphology, Division of Translational Research , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah E.","family":"Loeb","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 1 Section on Molecular Dysmorphology, Division of Translational Research , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuhong","family":"Pei","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health 2 Translational and Functional Genomics Branch , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chon-Hwa","family":"Tsai-Morris","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 3 Zebrafish Core , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2567-7785","authenticated-orcid":false,"given":"Lisha","family":"Xu","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health 2 Translational and Functional Genomics Branch , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7791-6223","authenticated-orcid":false,"given":"Celine V.","family":"Cluzeau","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 1 Section on Molecular Dysmorphology, Division of Translational Research , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2524-1420","authenticated-orcid":false,"given":"Christopher A.","family":"Wassif","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 1 Section on Molecular Dysmorphology, Division of Translational Research , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8880-3454","authenticated-orcid":false,"given":"Benjamin","family":"Feldman","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 3 Zebrafish Core , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-0596","authenticated-orcid":false,"given":"Shawn M.","family":"Burgess","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health 2 Translational and Functional Genomics Branch , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8281-5120","authenticated-orcid":false,"given":"William J.","family":"Pavan","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health 4 Genetic Disease Research Branch , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9397-0046","authenticated-orcid":false,"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health 1 Section on Molecular Dysmorphology, Division of Translational Research , , Department of Health and Human Services, Bethesda, MD 20892 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2018,8,15]]},"reference":[{"key":"2024061303532045800_DMM034165C1","doi-asserted-by":"publisher","first-page":"9404","DOI":"10.1523\/JNEUROSCI.1317-11.2011","article-title":"Unesterified cholesterol accumulation in late endosomes\/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment","volume":"31","author":"Aqul","year":"2011","journal-title":"J. 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