Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

By Tiranti V.  

Human Molecular Genetics, Vol. 12, Iss. 4, 2003-02 ,pp. : 399-413

Oxford University Press

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Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

By Yao Jianbo   Shoubridge Eric A.  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2541-2549

Oxford University Press

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Transcriptional activators HAP/NF-Y rescue a cytochrome c oxidase defect in yeast and human cells

By Fontanesi Flavia   Jin Can   Tzagoloff Alexander   Barrientos Antoni  

Human Molecular Genetics, Vol. 17, Iss. 6, 2008-03 ,pp. : 775-788

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

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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

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

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