Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Bayat, Vafa; Thiffault, Isabelle; Jaiswal, Manish; Tétreault, Martine; Donti, Taraka; Sasarman, Florin; Bernard, Geneviève; Demers-Lamarche, Julie; Dicaire, Marie‐Josée; Mathieu, Jean; Vanasse, Michel; Bouchard, Jean‐Pierre; Rioux, Marie‐France; Marques Lourenço, Charles; Li, Zhihong; Haueter, Claire; A. Shoubridge, Eric; H. Graham, Brett; Brais, Bernard; J. Bellen, Hugo

doi:10.1371/journal.pbio.1001288

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Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Published in PLoS Biology • Mar 20, 2012

Authors:

Vafa Bayat

Isabelle Thiffault

Manish Jaiswal

Abstract

An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and neurological diseases such as Leigh Syndrome. In a forward genetic screen to identify genes required for neuronal function and survival in Drosophila ph...

Subject

Biology

Mitochondrion

Ataxia

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