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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Detalles Bibliográficos
Autores principales: 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, Lourenco, Charles M., Li, Zhihong, Haueter, Claire, Shoubridge, Eric A., Graham, Brett H., Brais, Bernard, Bellen, Hugo J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308940/
https://www.ncbi.nlm.nih.gov/pubmed/22448145
http://dx.doi.org/10.1371/journal.pbio.1001288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308940/
https://www.ncbi.nlm.nih.gov/pubmed/22448145
http://dx.doi.org/10.1371/journal.pbio.1001288

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