A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.

Chen, Huan-Yun; Lin, Han-I; Hsu, Chia-Lang; Chen, Pei-Lung; Huang, Cheng-Yen; Teng, Shu-Chun; Lin, Chin-Hsien

Chen, Huan-Yun; Lin, Han-I; Hsu, Chia-Lang; Chen, Pei-Lung; Huang, Cheng-Yen; Teng, Shu-Chun; Lin, Chin-Hsien.

Afiliación

Chen HY; Department of Microbiology, College of Medicine, National Taiwan University, Taipei, Taiwan.
Lin HI; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Hsu CL; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
Chen PL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University, College of Medicine, Taipei, Taiwan.
Huang CY; The First Core Laboratory, College of Medicine, National Taiwan University, Taipei, Taiwan.
Teng SC; Department of Microbiology, College of Medicine, National Taiwan University, Taipei, Taiwan; Center of Precision Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: shuchunteng@ntu.edu.tw.
Lin CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: chlin@ntu.edu.tw.

Parkinsonism Relat Disord ; 109: 105353, 2023 04.

Article en En | MEDLINE | ID: mdl-36863113

Asunto(s)

Mutación del Sistema de Lectura; Neuroblastoma; Humanos; Mutación del Sistema de Lectura/genética; alfa-Sinucleína/genética; Linaje; Proteínas Mitocondriales/genética; Mitocondrias/genética; Mitocondrias/metabolismo; Mutación; Proteínas de la Membrana/genética; Hierro/metabolismo

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura / Neuroblastoma Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Taiwán

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