Cytochrome c oxidase deficiency due to mutations in SCO2 , encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

By Jaksch Michaela  

Human Molecular Genetics, Vol. 10, Iss. 26, 2001-12 ,pp. : 3025-3035

Oxford University Press

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Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition

By Gilkerson Robert W.   De Vries Rosa L.A.   Lebot Paul   Wikstrom Jakob D.   Torgyekes Edina   Shirihai Orian S.   Przedborski Serge   Schon Eric A.  

Human Molecular Genetics, Vol. 21, Iss. 5, 2012-03 ,pp. : 978-990

Oxford University Press

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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

By Tiranti Valeria   Corona Paola   Greco Marilena   Taanman Jan-Willem  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2733-2742

Oxford University Press

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Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2

By Yang Hua   Brosel Sonja   Acin-Perez Rebeca   Slavkovich Vesna   Nishino Ichizo   Khan Raffay   Goldberg Ira J.   Graziano Joseph   Manfredi Giovanni   Schon Eric A.  

Human Molecular Genetics, Vol. 19, Iss. 1, 2010-01 ,pp. : 170-180

Oxford University Press

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

By Jaksch Michaela  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 795-801

Oxford University Press

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