A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

A MICROSPECTROPHOTOMETRIC METHOD FOR THE DETERMINATION OF CYTOCHROME OXIDASE

S.J. Cooperstein, Arnold Lazarow · Journal of Biological Chemistry · 1951 · 1.4K citations · Full text

Biochemistry, Heme Degradation, Bioanalysis +4

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Zhiqing Zhu, Jianbo Yao, Timothy Johns et al. · Nature Genetics · 1998 · 618 citations

Biochemistry, Genetic Disorder, Natural Sciences +9

Identification of a gene causing human cytochrome <i>c</i> oxidase deficiency by integrative genomics

Vamsi K. Mootha, Kathleen A. Miller, Jakob Bunkenborg et al. · Proceedings of the National Academy of Sciences · 2003 · 570 citations

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson et al. · Nature Genetics · 1999 · 569 citations

Cardiomyopathy, Heart Failure, Genetic Disorder +10

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Isabelle Valnot, Sandrine Osmond, Nadine Gigarel et al. · The American Journal of Human Genetics · 2000 · 353 citations · Full text

Hepatology, Mitochondrial Function, Biochemistry +11