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Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Di Nottia, Michela; Montanari, Arianna; Verrigni, Daniela; Oliva, Romina; Torraco, Alessandra; Fernandez-Vizarra, Erika; Diodato, Daria; Rizza, Teresa; Bianchi, Marzia; Catteruccia, Michela; Zeviani, Massimo; Dionisi-Vici, Carlo; Francisci, Silvia; Bertini, Enrico; Carrozzo, Rosalba.
Affiliation
  • Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Montanari A; Pasteur Institute Italy - Cenci Bolognetti Foundation, Italy; Department of Biology and Biotechnologies "Charles Darwin", Sapienza University of Rome, Rome, Italy.
  • Verrigni D; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Oliva R; Department of Sciences and Technologies, University Parthenope of Naples, Centro Direzionale Isola C4, I-80143 Naples, Italy.
  • Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Fernandez-Vizarra E; Mitochondrial Biology Unit, Medical Research Council, Cambridge, UK.
  • Diodato D; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Rizza T; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bianchi M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Catteruccia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Zeviani M; Mitochondrial Biology Unit, Medical Research Council, Cambridge, UK.
  • Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Francisci S; Department of Biology and Biotechnologies "Charles Darwin", Sapienza University of Rome, Rome, Italy.
  • Bertini E; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: rosalba.carrozzo@opbg.net.
Biochim Biophys Acta Mol Basis Dis ; 1863(4): 961-967, 2017 04.
Article in En | MEDLINE | ID: mdl-28132884
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Full text: 1 Database: MEDLINE Main subject: Peptide Chain Elongation, Translational / DNA, Mitochondrial / Base Sequence / Peptide Elongation Factor Tu / Sequence Deletion / Mitochondrial Proteins / Leukoencephalopathies / Mitochondria Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2017 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Peptide Chain Elongation, Translational / DNA, Mitochondrial / Base Sequence / Peptide Elongation Factor Tu / Sequence Deletion / Mitochondrial Proteins / Leukoencephalopathies / Mitochondria Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2017 Type: Article Affiliation country: Italy