A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Nature Genetics

Volumn 29, Issue 1, 2001, Pages 57-60

  De Lonlay, Pascale ^a   Valnot, Isabelle ^a   Barrientos, Antoni ^b   Gorbatyuk, Marina ^b   Tzagoloff, Alexander ^b   Taanman, Jan Willem ^c   Benayoun, Emmanuel ^a   Chrétien, Dominique ^a   Kadhom, Noman ^a   Lombès, Anne ^d   De Baulny, Hélène Ogier ^e   Niaudet, Patrick ^a   Munnich, Arnold ^a   Rustin, Pierre ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Columbia University ^*  (United States)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d INSERM   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME B; GENE PRODUCT; NICOTINAMIDE ADENINE DINUCLEOTIDE; PROTEIN BCS1L; SUCCINIC ACID; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX FORMATION; CONTROLLED STUDY; DNA DETERMINATION; ELECTRON TRANSPORT; ENZYME DEFICIENCY; ENZYME MECHANISM; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC CODE; GENETIC COMPLEMENTATION; HUMAN; KIDNEY TUBULE DISORDER; LIVER FAILURE; MITOCHONDRIAL RESPIRATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RESPIRATORY CHAIN; SEQUENCE ANALYSIS;

EID: 17944381521     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng706     Document Type: Article

References (25)

1. Clinical heterogeneity in respiratory chain complex III deficiency in childhood
2. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency
3. A novel gly 290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance
4. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
5. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
6. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
7. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene
8. 2-cytochrome c reductase
9. Characterization of CBP4, a new gene essential for the expression of ubiquinol-cytochrome c reductase in Saccharomyces cerevisiae
10. BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae
11. The nuclear ABC1 gene is essential for the correct conformation and functioning of the cytochrome bc1 complex and the neighbouring complexes II and IV in the mitochondrial respiratory chain
12. 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
13. Yeast/E. coli shuttle vectors with multiple unique restriction sites
14. Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex
15. E. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
16. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
17. Mutations in SURF1 are not specifically associated with Leigh syndrome
18. A SURF1 gene mutation presenting as isolated leukodystrophy
19. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
20. Biochemical and molecular investigations in respiratory chain deficiencies
21. Physical and genetic organization of petite and grande yeast mitochondrial DNA. IV. In vivo transcription products of mitochondrial DNA and localization of 23 S ribosomal RNA in petite mutants of Saccharomyces cerevisiae
22. SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration
23. Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system
24. Applications of high efficiency lithium acetate transformation of intact yeast cells using single-stranded nucleic acids as carrier
25. Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency