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

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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Main Authors: Lilian Cruz (Author), Bence György (Author), Pike See Cheah (Author), Benjamin P. Kleinstiver (Author), William A. Eimer (Author), Sara P. Garcia (Author), Nutan Sharma (Author), Laurie J. Ozelius (Author), D. Cristopher Bragg (Author), J. Keith Joung (Author), Osmar Norberto de Souza (Author), Luis Fernando Saraiva Macedo Timmers (Author), Xandra O. Breakefield (Author)
Format: Book
Published: Elsevier, 2020-09-01T00:00:00Z.
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