Article

Allele-specific targeting of mutant TOR1A by the compact CRISPR/NmCas9 system in DYT1 dystonia with high fidelity

2024-04-23

Abstract excerpt

DYT1 is an autosomal dominant form of isolated dystonia, which is basically caused by an in-frame 3-bp GAG deletion in the TOR1A gene, leading to loss of a single glutamic acid residue (ΔE) at the C-terminus. TOR1A has been strongly implicated in various biological processes, such as protein quality control and regulation of ER stress. Many of these functions involve as protein multimers between TOR1A and its par...

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Literature Corpus work: 4536327c-7067-5336-8bc7-e5b3cb33b4c6
DOI: 10.1101/2024.04.22.590668

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