ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Cooper, Helen M; Yang, Yang; Ylikallio, Emil; Khairullin, Rafil; Woldegebriel, Rosa; Lin, Kai-Lan; Euro, Liliya; Palin, Eino; Wolf, Alexander; Trokovic, Ras; Isohanni, Pirjo; Kaakkola, Seppo; Auranen, Mari; Lönnqvist, Tuula; Wanrooij, Sjoerd; Tyynismaa, Henna

Cooper, Helen M; Yang, Yang; Ylikallio, Emil; Khairullin, Rafil; Woldegebriel, Rosa; Lin, Kai-Lan; Euro, Liliya; Palin, Eino; Wolf, Alexander; Trokovic, Ras; Isohanni, Pirjo; Kaakkola, Seppo; Auranen, Mari; Lönnqvist, Tuula; Wanrooij, Sjoerd; Tyynismaa, Henna.

Afiliación

Cooper HM; Åbo Akademi University, Faculty of Natural Sciences and Technology, Turku, Finland.
Yang Y; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Ylikallio E; Institute of Neuroscience, Zhejiang University School of Medicine, Hangzhou, P.R. China.
Khairullin R; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Woldegebriel R; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Lin KL; Department of Medical Biochemistry and Biophysics, Umeå University, Umeå, Sweden.
Euro L; Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, Kazan, Russia.
Palin E; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Wolf A; Åbo Akademi University, Faculty of Natural Sciences and Technology, Turku, Finland.
Trokovic R; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Isohanni P; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Kaakkola S; Institute of Molecular Toxicology and Pharmacology, Helmholtz-Zentrum Muenchen-German Research Center for Environmental Health, Neuherberg, Germany.
Auranen M; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Lönnqvist T; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Wanrooij S; Department of Child Neurology, Children's Hospital, Helsinki University Hospital, Helsinki, Finland.
Tyynismaa H; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Hum Mol Genet ; 26(8): 1432-1443, 2017 04 15.

Article en En | MEDLINE | ID: mdl-28158749

Asunto(s)

Adenosina Trifosfatasas/genética; Parálisis Cerebral/genética; Proteínas de la Membrana/genética; Proteínas Mitocondriales/genética; Paraplejía Espástica Hereditaria/genética; ATPasas Asociadas con Actividades Celulares Diversas; Adenosina Trifosfatasas/biosíntesis; Adolescente; Adulto; Axones/metabolismo; Axones/patología; Parálisis Cerebral/patología; Preescolar; Femenino; Regulación de la Expresión Génica; Humanos; Masculino; Proteínas de la Membrana/biosíntesis; Mitocondrias/metabolismo; Mitocondrias/patología; Dinámicas Mitocondriales/genética; Membranas Mitocondriales/metabolismo; Membranas Mitocondriales/patología; Proteínas Mitocondriales/biosíntesis; Mutación; Paraplejía Espástica Hereditaria/patología; Serina-Treonina Quinasas TOR/genética

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Parálisis Cerebral / Adenosina Trifosfatasas / Proteínas Mitocondriales / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article

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