Article
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Human molecular genetics - 15 Jun 2018
Boczonadi Veronika, Meyer Kathrin, Gonczarowska-Jorge Humberto, Griffin Helen, Roos Andreas, Bartsakoulia Marina, Bansagi Boglarka, Ricci Giulia, Palinkas Fanni, Zahedi René P, Bruni Francesco, Kaspar Brian, Lochmüller Hanns, Boycott Kym M, Müller Juliane S, Horvath Rita
Abstract excerpt
The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA synthetases. Dominant GARS mutations were described in inherited neuropathies, while recessive mutations cause severe childhood-onset disorders affecting skeletal muscle and heart. The downstream...
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