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Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
Vu, Mylinh1; Li, Rong1; Baskfield, Amanda1; Lu, Billy1; Farkhondeh, Atena1; Gorshkov, Kirill1; Motabar, Omid1; Beers, Jeanette2; Chen, Guokai2,3; Zou, Jizhong2; Espejo-Mojica, Angela J.4; Rodriguez-Lopez, Alexander4,5; Almeciga-Diaz, Carlos J.4; Barrera, Luis A.4; Jiang, Xuntian6; Ory, Daniel S.6; Marugan, Juan J.1; Zheng, Wei1
2018-09-17
Source PublicationORPHANET JOURNAL OF RARE DISEASES
ISSN1750-1172
Volume13
Abstract

Background: Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes beta-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD.

KeywordTay-sachs Disease Induced Pluripotent Stem Cells Neural Stem Cells Cyclodextrin Hp Beta Cd Delta-tocopherol Enzyme Replacement Therapy Hexosaminidase a Gm2 Gangliosidosis High Throughput Screening Drug Discovery
DOI10.1186/s13023-018-0886-3
URLView the original
Indexed BySCI
Language英语
WOS Research AreaGenetics & Heredity ; Research & Experimental Medicine
WOS SubjectGenetics & Heredity ; Medicine, Research & Experimental
WOS IDWOS:000444968000001
PublisherBMC
The Source to ArticleWOS
Fulltext Access
Citation statistics
Cited Times [WOS]:4   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
CollectionFaculty of Health Sciences
Affiliation1.National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
2.Center for Molecular Medicine, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
3.Faculty of Health Sciences, University of Macau, Macau, People’s Republic of China
4.Institute for the Study of Inborn Errors of Metabolism, Faculty of Sciences, Pontificia Universidad Javeriana, Bogotá, Colombia
5.Chemistry Department, Faculty of Science, Pontificia Universidad Javeriana, Bogotá, Colombia
6.Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO, USA
Recommended Citation
GB/T 7714
Vu, Mylinh,Li, Rong,Baskfield, Amanda,et al. Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease[J]. ORPHANET JOURNAL OF RARE DISEASES,2018,13.
APA Vu, Mylinh.,Li, Rong.,Baskfield, Amanda.,Lu, Billy.,Farkhondeh, Atena.,...&Zheng, Wei.(2018).Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.ORPHANET JOURNAL OF RARE DISEASES,13.
MLA Vu, Mylinh,et al."Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease".ORPHANET JOURNAL OF RARE DISEASES 13(2018).
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