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

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

1998 • 616 citations

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

1998 • 512 citations

Characterization of , a Yeast Gene Involved in Copper Metabolism and Assembly of Cytochrome Oxidase

1996 • 483 citations

CYTOCHROME C OXIDASE: Structure and Spectroscopy

1998 • 440 citations

Mitochondrial DNA mutations and pathogenesis.

1997 • 427 citations

Cytochrome c oxidase deficiency in leigh syndrome

1987 • 368 citations

SCO1 and SCO2 Act as High Copy Suppressors of a Mitochondrial Copper Recruitment Defect in Saccharomyces cerevisiae

1996 • 326 citations

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1983 • 231 citations

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency

1980 • 203 citations

[43]Cytochemistry and immunocytochemistry of mitochondria in tissue sections

1996 • 191 citations

Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups.

1986 • 173 citations

Isolation of a cDNA encoding the human homolog of COX17 , a yeast gene essential for mitochondrial copper recruitment

1997 • 153 citations

Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain

1998 • 152 citations

SCO1, a yeast nuclear gene essential for accumulation of mitochondrial cytochrome c oxidase subunit II

1988 • 116 citations

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

1993 • 106 citations

Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae.

1994 • 98 citations

Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidase

1999 • 94 citations

Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.

1994 • 88 citations

Accumulation of the cytochrome c oxidase subunits I and II in yeast requires a mitochondrial membrane-associated protein, encoded by the nuclear SCO1 gene

1989 • 87 citations

Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane

1991 • 86 citations

Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome

1997 • 82 citations

Yeast SCO1 protein is required for a post-translational step in the accumulation of mitochondrial cytochrome c oxidase subunits I and II

1990 • 78 citations

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

1998 • 77 citations

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

1991 • 73 citations

Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localization

1999 • 47 citations

Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoforms

1992 • 47 citations

Post-transcriptional regulation of tissue-specific isoforms. A bovine cytosolic RNA-binding protein, COLBP, associates with messenger RNA encoding the liver-form isopeptides of cytochrome c oxidase

1993 • 41 citations

The identification of 18 nuclear genes required for the expression of the yeast mitochondrial gene encoding cytochrome c oxidase subunit 1

1992 • 40 citations

Cytochrome oxidase deficiency: progress and problems

1994 • 21 citations