Cytochrome c oxidase deficiency

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 1, 2001, Pages 46-52

  Munnich, Arnold ^a   Rustin, Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Cytochrome c oxidase; Mitochondrial disease; Oxidative phosphorylation

Indexed keywords

CYTOCHROME C; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; OXYGEN; PROTEIN SUBUNIT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; ELECTRON TRANSPORT; ENZYME DEFICIENCY; ENZYME STRUCTURE; GENE MUTATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; LEIGH DISEASE; MUSCLE HYPERTROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; RESPIRATORY CHAIN;

ADULT; CARRIER PROTEINS; CATALYSIS; CHILD; CYTOCHROME-C OXIDASE DEFICIENCY; DNA, COMPLEMENTARY; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; GENOTYPE; HEME; HUMANS; LEIGH DISEASE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MODELS, BIOLOGICAL; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; PROTEINS;

EID: 0034951707     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1378     Document Type: Article

References (53)

1. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
2. Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome
3. A stop-codon mutation in the human mtDNA cytochrome c oxidase 1 gene disrupts the functional structure of complex IV
4. The complexity of a respiratory complex
5. Mitochondrial DNA and disease
6. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
7. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
8. A human SCO2 mutation helps define the role of scolp in the cytochrome oxidase assembly pathway
9. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia
10. Characterization of cytochrome-c oxidase mutants in human fibroblasts
11. Cloning and characterization of COX14, whose product is required for assembly of yeast cytochrome oxidase
12. SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae
13. Mirochondrial assembly in yeast
14. Cyrochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA
15. Membrane translocation of mitochondrially coded Cox2p: Distinct requirements for export of N and C termini and dependence on the conserved protein Oxalp
16. Oxalp mediates the export of the N and C-termini of pCoxII from the mitochondrial matrix to the intermembrane space
17. Cox11p is required stable formation of the Cu(B) and magnesium centers of cytochrome c oxidase
18. A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase
19. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome c oxidase deficiency
20. Structure at 2.8 A resolution of cytochrome c oxidase from Paracoccus denitrificans
21. 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
22. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
23. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA
24. A microdeletion in cytochrome c oxidase (COX) subunit 11I associated with COX deficiency and recurrent myoglobinuria
25. A genome-wide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
26. Mitochondrial copper metabolism in yeast: Interaction between sco 1 p and cox2p
27. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
28. SHY1, the yeast homolog of the mammalian SURF-1 gene. encodes a mitochrondial protein required for respiration
29. Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups
30. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec
31. A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome
32. Assembly of cytochrome-c oxidase in cultured human cells
33. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
34. Somatic mutations of the mitochondrial genome in human colorectal tumours
35. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
36. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy
37. Leukodystrophy associated with a novel mutation in the SURF1 gene
38. Human cytochrome oxidase deficiency
39. Structural features of cytochrome oxidase
40. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
41. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
42. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
43. Characterization of SURF-1 expression and Surf1p function in normal and disease conditions
44. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
45. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
46. The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A
47. PET genes of Saccharomyces cerevisiae
48. On the functions of the yeast COX10 and COX11 gene products
49. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy
50. A mutation in the human heme A: Farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
51. Mutations in SURF1are not specifically associated with Leigh Syndrome
52. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
53. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome