CMT2D Mutation Halts Early Steps of Protein Production

CMT2D Mutation Halts Early Steps of Protein Production

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CMT2D Mutation Halts Early Steps of Protein Production

Mutations in the GARS gene — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — halt the first steps of protein production, new research shows. Specifically, the mutations cause ribosomes — the factories where proteins are assembled — to stall protein production. Therapies that can overcome this ribosome-pausing problem may be beneficial to patients with CMT. The study, “Charcot–Marie–Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response,”…

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