Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.

Liu, Yi-Ting; Huang, Xiaoping; Nguyen, Diana; Shammas, Mario K; Wu, Beverly P; Dombi, Eszter; Springer, Danielle A; Poulton, Joanna; Sekine, Shiori; Narendra, Derek P

Liu, Yi-Ting; Huang, Xiaoping; Nguyen, Diana; Shammas, Mario K; Wu, Beverly P; Dombi, Eszter; Springer, Danielle A; Poulton, Joanna; Sekine, Shiori; Narendra, Derek P.

Afiliación

Liu YT; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Huang X; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Nguyen D; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Shammas MK; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Wu BP; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Dombi E; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford OX3 9DU, UK.
Springer DA; Murine Phenotyping Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Poulton J; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford OX3 9DU, UK.
Sekine S; Aging Institute, Division of Cardiology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Narendra DP; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

Hum Mol Genet ; 29(9): 1547-1567, 2020 06 03.

Article en En | MEDLINE | ID: mdl-32338760

Asunto(s)

Esclerosis Amiotrófica Lateral/genética; Proteínas de Unión al ADN/genética; Demencia Frontotemporal/genética; Metaloproteasas/genética; Proteínas Mitocondriales/genética; Enfermedad de Parkinson/genética; Factores de Transcripción/genética; Esclerosis Amiotrófica Lateral/patología; Animales; Cardiomiopatías/diagnóstico por imagen; Cardiomiopatías/genética; Cardiomiopatías/patología; Modelos Animales de Enfermedad; Demencia Frontotemporal/patología; Predisposición Genética a la Enfermedad; Células HeLa; Humanos; Ratones; Ratones Noqueados; Mitocondrias/genética; Mitocondrias/patología; Mutación/genética; Enfermedad de Parkinson/patología

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Factores de Transcripción / Proteínas Mitocondriales / Metaloproteasas / Proteínas de Unión al ADN / Demencia Frontotemporal / Esclerosis Amiotrófica Lateral Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos

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