Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
Summary
Our results demonstrate that the Tay-Sachs disease NSCs possess the characteristic phenotype to serve as a cell-based disease model for study of the disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs disease cell model.
| Authors | Vu M, Li R, Baskfield A, Lu B, Farkhondeh A, Gorshkov K, Motabar O, Beers J, Chen G, Zou J, Espejo-Mojica AJ, Rodríguez-López A, Alméciga-Díaz CJ, Barrera LA, Jiang X, Ory DS, Marugan JJ, Zheng W |
|---|---|
| Journal | Orphanet journal of rare diseases |
| Publication Date | 2018 Sep 17;13(1):152 |
| PubMed | 30220252 |
| PubMed Central | PMC6139903 |
| DOI | 10.1186/s13023-018-0886-3 |