Respiratory chain complex I deficiency (Q28189572)

Europe PubMed Central

title

Respiratory chain complex I deficiency (English)

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author name string

R H Triepels

1

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L P Van Den Heuvel

2

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J M Trijbels

3

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J A Smeitink

American Journal of Medical Genetics Part A

4

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language of work or name

English

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publication date

2001

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published in

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volume

106

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issue

1

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page(s)

37-45

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cites work

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Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase

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URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit

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SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

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An unusually large multifunctional polypeptide in the erythromycin-producing polyketide synthase of Saccharopolyspora erythraea

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The 49-kDa subunit of NADH-ubiquinone oxidoreductase (Complex I) is involved in the binding of piericidin and rotenone, two quinone-related inhibitors

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Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase

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Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

21 January 2018

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N-arylazido-beta-alanyl-NAD+, a new NAD+ photoaffinity analogue. Synthesis and labeling of mitochondrial NADH dehydrogenase

21 January 2018

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Does the patient have a mitochondrial encephalomyopathy?

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A homologue of a nuclear-coded iron-sulfur protein subunit of bovine mitochondrial complex I is encoded in chloroplast genomes

21 January 2018

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NADH:ubiquinone oxidoreductase from bovine mitochondria. cDNA sequence of a 19 kDa cysteine-rich subunit

21 January 2018

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Photolabelling of a mitochondrially encoded subunit of NADH dehydrogenase with [3H]dihydrorotenone.

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Estimation of NADH oxidation in human skeletal muscle mitochondria.

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Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase

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Maternal inheritance of human mitochondrial DNA

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The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

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The mitochondrial electron transport and oxidative phosphorylation system

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Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain

21 January 2018

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Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

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A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

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Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).

21 January 2018

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Leber's hereditary optic neuropathy and complex I deficiency in muscle

21 January 2018

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Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13.

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

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Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

21 January 2018

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Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

21 January 2018

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Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

21 January 2018

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A mitochondrial DNA mutation cosegregates with the pathophysiological U wave.

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Deficiency of respiratory chain complex I is a common cause of Leigh disease.

21 January 2018

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Clinical aspects of mitochondrial disorders

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Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

21 January 2018

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Iron-sulfur clusters/semiquinones in complex I.

21 January 2018

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

21 January 2018

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cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

21 January 2018

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Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

21 January 2018

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Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial complex I: genomic organization and expression

21 January 2018

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

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Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

21 January 2018

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Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

21 January 2018

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Presence of an acyl carrier protein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria

21 January 2018

1 reference

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cAMP-dependent phosphorylation of the nuclear encoded 18-kDa (IP) subunit of respiratory complex I and activation of the complex in serum-starved mouse fibroblast cultures

21 January 2018

1 reference

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Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

21 January 2018

1 reference

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

1 reference

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NADH-quinone oxidoreductase: PSST subunit couples electron transfer from iron-sulfur cluster N2 to quinone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

A reductase/isomerase subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I) carries an NADPH and is involved in the biogenesis of the complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

Genomic organization of the human complex I 13-kDa subunit gene NDUFA5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

21 January 2018

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Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

21 January 2018

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Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

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The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

21 January 2018

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Sequences of 20 subunits of NADH: Ubiquinone oxidoreductase from bovine heart mitochondria

21 January 2018

1 reference

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The gene locus of the proton-translocating NADH: ubiquinone oxidoreductase in Escherichia coli. Organization of the 14 genes and relationship between the derived proteins and subunits of mitochondrial complex I.

21 January 2018

1 reference

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The respiratory-chain NADH dehydrogenase (complex I) of mitochondria

21 January 2018

1 reference

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Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1397

Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

21 January 2018

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release_xbqktuokbbhmjih7ghry3dvkhq

21 January 2018

Identifiers

DOI

10.1002/AJMG.1397

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Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/xbqktuokbbhmjih7ghry3dvkhq