Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function

Most individuals affected with DYT1 dystonia have a heterozygous 3-bp deletion in the TOR1A gene (c.907_909delGAG). The mutation appears to act through a dominant-negative mechanism compromising normal torsinA function, and it is proposed that reducing mutant torsinA may normalize torsinA activity....

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Detalles Bibliográficos
Autores principales: Cruz, Lilian, György, Bence, Cheah, Pike See, Kleinstiver, Benjamin P., Eimer, William A., Garcia, Sara P., Sharma, Nutan, Ozelius, Laurie J., Bragg, D. Cristopher, Joung, J. Keith, Norberto de Souza, Osmar, Macedo Timmers, Luis Fernando Saraiva, Breakefield, Xandra O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270506/
https://www.ncbi.nlm.nih.gov/pubmed/32502938
http://dx.doi.org/10.1016/j.omtn.2020.05.009

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