Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

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...

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Autores principales:	Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/49c361fbff384663a3cdb4b3869b2dcd
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.

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