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Open Access
Peer-reviewed
Research Article
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
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Vafa Bayat ,
Contributed equally to this work with: Vafa Bayat, Isabelle Thiffault
Affiliations Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America, Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, United States of America
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Isabelle Thiffault ,
Contributed equally to this work with: Vafa Bayat, Isabelle Thiffault
Affiliations Laboratoire de Neurogénétique de la Motricité, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada, Department of Human Genetics, Montreal Neurological Institute–McGill University, Montréal, Québec, Canada
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Manish Jaiswal,
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Martine Tétreault,
Affiliation Laboratoire de Neurogénétique de la Motricité, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada
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Taraka Donti,
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Florin Sasarman,
Affiliation Department of Human Genetics, Montreal Neurological Institute–McGill University, Montréal, Québec, Canada
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Geneviève Bernard,
Affiliation Laboratoire de Neurogénétique de la Motricité, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada
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Julie Demers-Lamarche,
Affiliation Laboratoire de Neurogénétique de la Motricité, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada
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Marie-Josée Dicaire,
Affiliation Laboratoire de Neurogénétique de la Motricité, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada
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Jean Mathieu,
Affiliation Clinique des Maladies Neuromusculaires, Centre de Santé et de Services Sociaux de Jonquière, Saguenay, Québec, Canada
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Michel Vanasse,
Affiliation Clinique des Maladies Neuromusculaires, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada
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Jean-Pierre Bouchard,
Affiliation Service de Neurologie, Centre Hospitalier Affilié Universitaire de Québec–Hôpital de l'Enfant-Jésus, Université Laval, Québec, Québec, Canada
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Marie-France Rioux,
Affiliation Service de Neurologie, Centre hospitalier de l'Université de Sherbrooke, Sherbrooke, Québec, Canada
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Charles M. Lourenco,
Affiliation Department of Medical Genetics, University of São Paulo, Ribeirao Preto–São Paulo, Brazil
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Zhihong Li,
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Claire Haueter,
Affiliation Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, United States of America
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Eric A. Shoubridge,
Affiliation Department of Human Genetics, Montreal Neurological Institute–McGill University, Montréal, Québec, Canada
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Brett H. Graham,
Affiliations Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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Bernard Brais ,
* E-mail: bernard.brais@mcgill.ca (BB); hbellen@bcm.edu (HJB)
¶The Bellen and Brais labs contributed equally to this work.
Affiliations Laboratoire de Neurogénétique de la Motricité, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Québec, Canada, Department of Human Genetics, Montreal Neurological Institute–McGill University, Montréal, Québec, Canada, Clinique des Maladies Neuromusculaires, Centre de Santé et de Services Sociaux de Jonquière, Saguenay, Québec, Canada, Clinique des Maladies Neuromusculaires, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada
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Hugo J. Bellen
* E-mail: bernard.brais@mcgill.ca (BB); hbellen@bcm.edu (HJB)
¶The Bellen and Brais labs contributed equally to this work.
Affiliations Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, United States of America, Department of Neuroscience, Baylor College of Medicine, Houston, Texas, United States of America, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, Texas, United States of America
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Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
- Vafa Bayat,
- Isabelle Thiffault,
- Manish Jaiswal,
- Martine Tétreault,
- Taraka Donti,
- Florin Sasarman,
- Geneviève Bernard,
- Julie Demers-Lamarche,
- Marie-Josée Dicaire,
- Jean Mathieu
- Published: March 20, 2012
- https://doi.org/10.1371/journal.pbio.1001288