Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease

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

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Vu, Mylinh, Li, Rong, Baskfield, Amanda, Lu, Billy, Farkhondeh, Atena, Gorshkov, Kirill, Motabar, Omid, Beers, Jeanette, Chen, Guokai, Zou, Jizhong, Espejo-Mojica, Angela J., Rodríguez-López, Alexander, Alméciga-Díaz, Carlos J., Barrera, Luis A., Jiang, Xuntian, Ory, Daniel S., Marugan, Juan J., Zheng, Wei
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6139903/
https://ncbi.nlm.nih.gov/pubmed/30220252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0886-3
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