Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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P1476

Mitochondrial disease genes CO ...... pping roles in COX2 biogenesis

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P2093

Aaron T Griffin

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Alok Ghosh

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Anthony T Pratt

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Prachi P Trivedi

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Sarah G Theriault

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Shivatheja Soma

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Vishal M Gohil

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P2860

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

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

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesis

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

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660-671

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scholarly article

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10.1093/HMG/DDV503

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2015-12-15T00:00:00Z

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287204207

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26669719

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4743686

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