Article

SIRT2-knockdown Rescues GARS-induced Charcot-Marie-Tooth Neuropathy

2019-11-25

Abstract excerpt

Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy. Dominant mutations in glycyl-tRNA synthetase (GARS) gene cause peripheral nerve degeneration and lead to CMT disease type 2D. Mutations in GARS (GARS CMT2D ) show partial loss-of-function features, suggesting that tRNA-charging deficits play a role in disease pathogenesis, but the underlying mechanisms are not fully understood. In thi...

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Literature Corpus work: ea3dcf5c-8bcc-501f-b377-49e767e73f1d
DOI: 10.1101/854588

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