| Residential College | false |
| Status | 已發表Published |
| 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
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| 2018-09-17 | |
| Source Publication | ORPHANET JOURNAL OF RARE DISEASES
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| ISSN | 1750-1172 |
| Volume | 13 |
| 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. |
| Keyword | Tay-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 |
| DOI | 10.1186/s13023-018-0886-3 |
| URL | View the original |
| Indexed By | SCIE |
| Language | 英語English |
| WOS Research Area | Genetics & Heredity ; Research & Experimental Medicine |
| WOS Subject | Genetics & Heredity ; Medicine, Research & Experimental |
| WOS ID | WOS:000444968000001 |
| Publisher | BMC |
| The Source to Article | WOS |
| Scopus ID | 2-s2.0-85053538927 |
| Fulltext Access | |
| Citation statistics | |
| Document Type | Journal article |
| Collection | Faculty of Health Sciences |
| Affiliation | 1.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., Gorshkov, Kirill., Motabar, Omid., Beers, Jeanette., Chen, Guokai., Zou, Jizhong., Espejo-Mojica, Angela J.., Rodriguez-Lopez, Alexander., Almeciga-Diaz, Carlos J.., Barrera, Luis A.., Jiang, Xuntian., Ory, Daniel S.., Marugan, Juan J.., & 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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