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Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Holzerova, Eliska; Danhauser, Katharina; Haack, Tobias B; Kremer, Laura S; Melcher, Marlen; Ingold, Irina; Kobayashi, Sho; Terrile, Caterina; Wolf, Petra; Schaper, Jörg; Mayatepek, Ertan; Baertling, Fabian; Friedmann Angeli, José Pedro; Conrad, Marcus; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Distelmaier, Felix.
Afiliação
  • Holzerova E; 1 Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675 Munich, Germany 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Danhauser K; 3 Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Haack TB; 1 Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675 Munich, Germany 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Kremer LS; 1 Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675 Munich, Germany 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Melcher M; 3 Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Ingold I; 4 Institute of Developmental Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Kobayashi S; 4 Institute of Developmental Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany 5 Division of Animal Production, Specialty of Bioproduction Science, The United Graduate School of Agricultural Sciences, Iwate University, Morioka, Iwate 020-8550, Japan.
  • Terrile C; 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Wolf P; 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Schaper J; 6 Medical Faculty, Department of Diagnostic and Interventional Radiology, University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Mayatepek E; 3 Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Baertling F; 3 Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
  • Friedmann Angeli JP; 4 Institute of Developmental Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Conrad M; 4 Institute of Developmental Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Strom TM; 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
  • Meitinger T; 1 Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675 Munich, Germany 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany 7 Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany.
  • Prokisch H; 1 Institute of Human Genetics, Technische Universität München, Trogerstr. 32, 81675 Munich, Germany 2 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany prokisch@helmholtz-muenchen.de felix.distelmaier@med.uni-duesseldorf.de.
  • Distelmaier F; 3 Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany prokisch@helmholtz-muenchen.de felix.distelmaier@med.uni-duesseldorf.de.
Brain ; 139(Pt 2): 346-54, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26626369
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais / Homeostase / Mitocôndrias Tipo de estudo: Etiology_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais / Homeostase / Mitocôndrias Tipo de estudo: Etiology_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article