COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2 (Q24338334)

plasma membrane ATP synthesis coupled electron transport

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

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12

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Bettina Warscheid

11

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Silke Oeljeklaus

10

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Hayley S. Mountford

Hayley Mountford

7

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David A. Stroud

David A Stroud

1

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Michael T Ryan

Michael T Ryan

14

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David Thorburn

David R Thorburn

13

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Megan J Maher

Megan J Maher

2

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Ann E Frazier

5

Ann E Frazier

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Elliot E Surgenor

6

Elliot Surgenor

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Abeer Singh

8

Abeer P Singh

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author name string

Caroline Lindau

3

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F-Nora Vögtle

4

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Matteo Bonas

Mitochondrial disorders as windows into an ancient organelle

9

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language of work or name

English

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publication date

1 October 2015

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published in

Human Molecular Genetics

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volume

24

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issue

19

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page(s)

5404-15

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cites work

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Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core

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

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Identification of the signal directing Tim9 and Tim10 into the intermembrane space of mitochondria

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Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I

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Mitochondrial complex I plays an essential role in human respirasome assembly

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Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

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Stable isotope labeling by amino acids in cell culture, SILAC, as a simple and accurate approach to expression proteomics

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Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis

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Redox regulation of SCO protein function: controlling copper at a mitochondrial crossroad

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Copper metallochaperones

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Redox sulfur chemistry of the copper chaperone Atox1 is regulated by the enzyme glutaredoxin 1, the reduction potential of the glutathione couple GSSG/2GSH and the availability of Cu(I).

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Yeast Sco1, a protein essential for cytochrome c oxidase function is a Cu(I)-binding protein.

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Human Sco1 functional studies and pathological implications of the P174L mutant

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The role of Hot13p and redox chemistry in the mitochondrial TIM22 import pathway

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Chaperone activity with a redox switch

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Precursor oxidation by Mia40 and Erv1 promotes vectorial transport of proteins into the mitochondrial intermembrane space

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Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase

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Cmc1p is a conserved mitochondrial twin CX9C protein involved in cytochrome c oxidase biogenesis.

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Knockdown of human COX17 affects assembly and supramolecular organization of cytochrome c oxidase

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Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

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Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

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

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Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase

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The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

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COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

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Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

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Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

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Folding studies of Cox17 reveal an important interplay of cysteine oxidation and copper binding

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Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins

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

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FLASH assembly of TALENs for high-throughput genome editing

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Advanced mammalian gene transfer: high titre retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line

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Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane

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Mitochondrial protein import: precursor oxidation in a ternary complex with disulfide carrier and sulfhydryl oxidase

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Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

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

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Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

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Isolation of Yeast Mitochondria

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