(Q34269333)

1 August 2017

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title

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases (English)

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1 August 2017

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van den Heuvel L

1

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1 August 2017

Smeitink J

series ordinal

2

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1 August 2017

language of work or name

English

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publication date

1 June 2001

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1 August 2017

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1 August 2017

volume

23

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1 August 2017

issue

6

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1 August 2017

page(s)

518-525

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Does the patient have a mitochondrial encephalomyopathy?

1 August 2017

cites work

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

21 January 2018

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Inborn and induced defects of mitochondria

21 January 2018

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Diseases of the mitochondrial DNA.

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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Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

21 January 2018

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Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction

21 January 2018

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

21 January 2018

1 reference

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

21 January 2018

1 reference

Human mitochondrial complex I in health and disease

21 January 2018

1 reference

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

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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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Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria

21 January 2018

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The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase

21 January 2018

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Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23

21 January 2018

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1.

21 January 2018

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Ubiquinol-cytochrome-c reductase from human and bovine mitochondria

21 January 2018

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The protonmotive Q cycle in mitochondria and bacteria.

21 January 2018

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Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria

21 January 2018

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Cytochrome b mutations in Leber hereditary optic neuropathy

21 January 2018

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Nuclear genes for cytochrome c oxidase

21 January 2018

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Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

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Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria

21 January 2018

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The ATP synthase--a splendid molecular machine

21 January 2018

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Mitochondrial assembly in yeast.

21 January 2018

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Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants

21 January 2018

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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

21 January 2018

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A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

The human Surfeit locus

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

21 January 2018

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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 January 2018

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

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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A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

21 January 2018

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Import of mitochondrial carriers mediated by essential proteins of the intermembrane space

21 January 2018

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Human deafness dystonia syndrome is a mitochondrial disease

21 January 2018

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The proton-translocating ATPase of Escherichia coli

21 January 2018

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Mitochondrial DNA and disease

21 January 2018

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21 January 2018

Mitochondrial Disorders

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The investigation of respiratory chain disorders in heart using endomyocardial biopsies

21 January 2018

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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

21 January 2018

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Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders

21 January 2018

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Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy

21 January 2018

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Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/BIES.1071

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1 August 2017

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