Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

Journal of Inherited Metabolic Disease

Volumn 24, Issue 1, 2001, Pages 15-27

  Wittig, I ^a   Augstein, P ^c   Brown, G K ^d   Fujii, T ^e   Rotig A ^f   Rustin, P ^f   Munnich, A ^f   Seibel, P ^g   Thorburn, D ^h   Wissinger, B ⁱ   Tamboom, K ^j   Metspalu, A ^j   Lamantea, E ^b   Zeviani, M ^b   Wehnert, M S ^a  

^a Institute of Human Genetics   (Germany)

^b Institute of Neurology ^*  (Italy)

^c Institut fur Diabetes 'Gerhardt Katsch'   (Germany)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e Shiga Medical Center for Children   (Japan)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g Research Group for Neurobiology and Cell Biology   (Germany)

^h MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

ⁱ UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^j UNIVERSITY OF TARTU   (Estonia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CELL NUCLEUS; CHROMOSOME XQ; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME DEFICIENCY; ENZYME SUBUNIT; ESTONIA; EXON; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOME; GERMANY; HEREDITARY OPTIC ATROPHY; HETERODUPLEX ANALYSIS; HUMAN; INTRON; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION; PROMOTER REGION; RESPIRATORY CHAIN; SAMPLE; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; FEMALE; GENE FREQUENCY; HUMANS; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; NADH DEHYDROGENASE; NADH, NADPH OXIDOREDUCTASES; NUCLEIC ACID HETERODUPLEXES; OPTIC ATROPHIES, HEREDITARY; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 0035100820     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005638218246     Document Type: Article

References (38)

1. The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria
2. An X-linked mitochondrial disease affecting cardiac muscle skeletal and neutrophil leukocytes
3. HGBASE: A database of SNPs and other variations in and around human genes
4. X chromosome-linked and mitochondrial gene control of Leber heriditary optic neuropathy: Evidence from segregation analysis for independence on X chromosome inactivation
5. Mapping of the genes of some components of the electron transport chain (complex I) on the X chromosome of mammals
6. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
7. Primary LHON mutations: Trying to separate "fruyt" from "chaf"
8. Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees
9. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
10. Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
11. The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection
12. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
13. cDNA of eight nuclear encoded subunits of NADH:Ubiquinone oxidoreductase: Human complex I cDNA characterisation completed
14. The human NADH:Ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localisation, tissue distribution and the absence of mutations in isolated complex I-deficient patients
15. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
16. A simple salting out procedure for extracting DNA from human nucleated cells
17. Clinical presentations and laboratory investigations in respiratory chain deficiency
18. Integrated YAC/STS physical and genetic map of 22.5 Mb of human Xq24-q26 at 56-kb inter-STS resolution
19. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
20. NADH:Ubiquinone oxidoreductase from bovine heart mitochondria: Sequence of a novel 17.2-kDa subunit
21. Molecular characterisation and mutational analysis in the human B17 subunit of the respiratory chain complex I
22. Nuclear genes of human complex I of the mitochondrial electron transport chain: State of the art
23. Human mitochondrial complex I in health and disease
24. Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy
25. Genomic organization of the human complex I 13-kDa subunit gene NDUFA5
26. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
27. The nuclear-encoded human NADH:Ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients
28. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
29. The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology
30. Demonstration of a new pathogenic mutation in human complex I deficiency: A 5bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
31. Optic atrophy in Leber hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7
32. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency
33. The NADH:Ubiquinone oxidoreductase (complex I) of the respiratory chains
34. Mitochondrial diseases in man and mouse
35. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
36. Mutation analysis of the ND6 gene in patients with Leber's hereditary optic neuropathy
37. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
38. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I