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.

Afiliação

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 em En | MEDLINE | ID: mdl-32338760

Assuntos

Esclerose Lateral Amiotrófica/genética; Proteínas de Ligação a DNA/genética; Demência Frontotemporal/genética; Metaloproteases/genética; Proteínas Mitocondriais/genética; Doença de Parkinson/genética; Fatores de Transcrição/genética; Esclerose Lateral Amiotrófica/patologia; Animais; Cardiomiopatias/diagnóstico por imagem; Cardiomiopatias/genética; Cardiomiopatias/patologia; Modelos Animais de Doenças; Demência Frontotemporal/patologia; Predisposição Genética para Doença; Células HeLa; Humanos; Camundongos; Camundongos Knockout; Mitocôndrias/genética; Mitocôndrias/patologia; Mutação/genética; Doença de Parkinson/patologia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Fatores de Transcrição / Proteínas Mitocondriais / Metaloproteases / Proteínas de Ligação a DNA / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

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