Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects

Alvaro Sanchez-Martinez; Manuel Calleja; Susana Peralta; Yuichi Matsushima; Rosana Hernandez-Sierra; Alexander J. Whitworth; Laurie S. Kaguni; Rafael Garesse

doi:10.1371/journal.pone.0043954

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Peer-reviewed

Research Article

Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects

Alvaro Sanchez-Martinez,

Current address: Department of Biomedical Sciences, MRC Centre for Developmental and Biomedical Genetics, University of Sheffield, Sheffield, United Kingdom

Affiliations Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols” Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, and Centro de Investigación Biomédica en Red en Enfermedades Raras, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain, Instituto de Investigación Santitaria Hospital 12 de Octubre (i+12), Madrid, Spain
⨯
Manuel Calleja,

Affiliation Centro de Biología Molecular “Severo Ochoa” Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, Madrid, Spain
⨯
Susana Peralta,

Current address: Department of Neurology and Cell Biology and Anatomy, University of Miami Miller School of Medicine, Miami, Florida, United States of America

Affiliations Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols” Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, and Centro de Investigación Biomédica en Red en Enfermedades Raras, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain, Instituto de Investigación Santitaria Hospital 12 de Octubre (i+12), Madrid, Spain
⨯
Yuichi Matsushima,

Current address: Department of Mental Retardation & Birth Defect Research, National Institute of Neuroscience, National Center of Neurology & Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, Japan

Affiliation Department of Biochemistry and Molecular Biology and Center for Mitochondrial Science and Medicine, Michigan State University, East Lansing, Michigan, United States of America
⨯
Rosana Hernandez-Sierra,

Affiliations Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols” Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, and Centro de Investigación Biomédica en Red en Enfermedades Raras, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain, Instituto de Investigación Santitaria Hospital 12 de Octubre (i+12), Madrid, Spain
⨯
Alexander J. Whitworth,

Affiliation Department of Biomedical Sciences, MRC Centre for Developmental and Biomedical Genetics, University of Sheffield, Sheffield, United Kingdom
⨯
Laurie S. Kaguni,

Affiliation Department of Biochemistry and Molecular Biology and Center for Mitochondrial Science and Medicine, Michigan State University, East Lansing, Michigan, United States of America
⨯
Rafael Garesse

* E-mail: rafael.garesse@uam.es

Affiliations Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols” Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, and Centro de Investigación Biomédica en Red en Enfermedades Raras, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain, Instituto de Investigación Santitaria Hospital 12 de Octubre (i+12), Madrid, Spain
⨯

Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects

Alvaro Sanchez-Martinez,
Manuel Calleja,
Susana Peralta,
Yuichi Matsushima,
Rosana Hernandez-Sierra,
Alexander J. Whitworth,
Laurie S. Kaguni,
Rafael Garesse

Published: August 28, 2012
https://doi.org/10.1371/journal.pone.0043954

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Drosophila melanogaster
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