Mutant allele-specific CRISPR disruption in DYT1 dystonia fibroblasts restores cell function

• Main Authors: Cruz, Lilian, Bence, György, Cheah, Pike See, Kleinstiver, Benjamin P., Eimer, William A., Garcia, Sara P., Sharma, Nutan, Ozelius, Laurie J., Cristopher, Bragg D., Joung, Keith J., Norberto de Souza, Osmar, Macedo Timmers, Luis Fernando Saraiva, Breakefield, Xandra O.
• Format: Article
• Language: English
• Published: Elsevier 2020
• Online Access: http://psasir.upm.edu.my/id/eprint/86867/1/Mutant%20allele.pdf; http://psasir.upm.edu.my/id/eprint/86867/; https://www.sciencedirect.com/science/article/pii/S2162253120301359

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....