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

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