Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast

By Reinhold Robert   Bareth Bettina   Balleininger Martina   Wissel Mirjam   Rehling Peter   Mick David U.  

Human Molecular Genetics, Vol. 20, Iss. 12, 2011-06 ,pp. : 2379-2393

Oxford University Press

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Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

By Leary Scot C.  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1839-1848

Oxford University Press

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A mutation in the human heme A:farnesyltransferase gene ( COX10 ) causes cytochrome c oxidase deficiency

By Valnot Isabelle   von Kleist-Retzow Jürgen-Christoph   Barrientos Antoni  

Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1245-1249

Oxford University Press

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A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

By Szklarczyk Radek   Wanschers Bas F. J.   Nijtmans Leo G.   Rodenburg Richard J.   Zschocke Johannes   Dikow Nicola   van den Brand Mariël A. M.   Hendriks-Franssen Marthe G. M.   Gilissen Christian   Veltman Joris A.   Nooteboom Marco   Koopman Werner J. H.   Willems Peter H.G.M.   Smeitink Jan A. M.   Huynen Martijn A.   van den Heuvel Lambertus P.  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 656-667

Oxford University Press

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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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