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CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.

Autor: Shammas, Mario K, Nie, Yu, Gilsrud, Alexandra, Huang, Xiaoping, Narendra, Derek P, Chinnery, Patrick F

Publikováno v: Human Molecular Genetics; Jan2024, Vol. 33 Issue 1, p91-101, 11p

DELE1 promotes translation-associated homeostasis, growth, and survival in mitochondrial myopathy.

Autor: Lin HP; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Petersen JD; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Gilsrud AJ; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Madruga A; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., D'Silva TM; 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., Shammas MK; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Randolph NP; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Li Y; Proteomics Core Facility, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Jones DR; Department of Radiation Oncology, NYU Langone Health, New York, United States., Pacold ME; Department of Biochemistry and Molecular Pharmacology, NYU Langone Health, New York, United States.; Perlmutter Cancer Center, NYU Langone Health, New York, United States., Narendra DP; Inherited Movement Disorders Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Feb 29. Date of Electronic Publication: 2024 Feb 29.