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Research Article

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

  • Raquel Moreno-Loshuertos equal contributor,

    equal contributor Contributed equally to this work with: Raquel Moreno-Loshuertos, Gustavo Ferrín

    Affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain

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  • Gustavo Ferrín equal contributor,

    equal contributor Contributed equally to this work with: Raquel Moreno-Loshuertos, Gustavo Ferrín

    Affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain

    Current address: Unidad de Investigación, Hospital Universitario Reina Sofía, Córdoba, Spain

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  • Rebeca Acín-Pérez,

    Affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain

    Current address: Department of Neurology and Neuroscience, Weill Medical College of Cornell University, Ithaca, New York, United States of America

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  • M. Esther Gallardo,

    Affiliation: Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols,” Facultad de Medicina, CSIC–Universidad Autónoma de Madrid, CIBERER, ISCIII, Madrid, Spain

    X
  • Carlo Viscomi,

    Affiliation: Division of Molecular Neurogenetics, Istituto Neurologico “Carlo Besta,” Milano, Italy

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  • Acisclo Pérez-Martos,

    Affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain

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  • Massimo Zeviani,

    Affiliation: Division of Molecular Neurogenetics, Istituto Neurologico “Carlo Besta,” Milano, Italy

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  • Patricio Fernández-Silva,

    Affiliation: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain

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  • José Antonio Enríquez mail

    jaenriquez@cnic.es

    Affiliations: Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain, Regenerative Cardiology Department, Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain

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  • Published: April 21, 2011
  • DOI: 10.1371/journal.pgen.1001379

About the Authors

Raquel Moreno-Loshuertos, Gustavo Ferrín, Rebeca Acín-Pérez, Acisclo Pérez-Martos, Patricio Fernández-Silva, José Antonio Enríquez
Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain
M. Esther Gallardo
Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols,” Facultad de Medicina, CSIC–Universidad Autónoma de Madrid, CIBERER, ISCIII, Madrid, Spain
Carlo Viscomi, Massimo Zeviani
Division of Molecular Neurogenetics, Istituto Neurologico “Carlo Besta,” Milano, Italy
José Antonio Enríquez
Regenerative Cardiology Department, Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain

Corresponding Author

Email: jaenriquez@cnic.es

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: APM PFS JAE. Performed the experiments: RML GF RAP. Analyzed the data: RML GF RAP MEG APM PFS JAE. Contributed reagents/materials/analysis tools: CV MZ. Wrote the paper: RML PFS JAE.