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

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

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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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

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Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy

By Matsushita Yoshihisa   Furukawa Toru   Kasanuki Hiroshi   Nishibatake Makoto   Kurihara Yachiyo   Ikeda Atsushi   Kamatani Naoyuki   Takeshima Hiroshi   Matsuoka Rumiko  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 543-548

Springer Publishing Company

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