A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

By Petruzzella V.  

Human Molecular Genetics, Vol. 10, Iss. 5, 2001-03 ,pp. : 529-535

Oxford University Press

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Metabolic consequences of a novel missense mutation of the mtDNA CO I gene

By Heils A.  

Human Molecular Genetics, Vol. 11, Iss. 16, 2002-08 ,pp. : 1797-1805

Oxford University Press

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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

By Yu-Wai-Man Patrick   Sitarz Kamil S.   Samuels David C.   Griffiths Philip G.   Reeve Amy K.   Bindoff Laurence A.   Horvath Rita   Chinnery Patrick F.  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 3043-3052

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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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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