Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency (Q24308632)

succinate dehydrogenase activity

GOA release 2020-03-11

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GOA release 2020-03-11

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7

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author name string

T Bourgeron

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P Rustin

2

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D Chretien

3

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M Birch-Machin

4

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M Bourgeois

5

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E Viegas-Péquignot

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A Rötig

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

8

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language of work or name

English

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publication date

October 1995

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published in

Nature Genetics

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volume

11

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issue

2

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page(s)

144-9

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cites work

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Diseases of the mitochondrial DNA.

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

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Modulation of mitochondrial succinate dehydrogenase activity, mechanism and function

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Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase

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Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

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Expression of respiratory chain deficiencies in human cultured cells

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Isolation and characterization of the Rickettsia prowazekii gene encoding the flavoprotein subunit of succinate dehydrogenase

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Clinical aspects of mitochondrial disorders

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

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

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Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment

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Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

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Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

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Interaction of the membrane-bound succinate dehydrogenase with substrate and competitive inhibitors

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Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria

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Studies on the assembly of complex II in yeast mitochondria using chimeric human/yeast genes for the iron-sulfur protein subunit

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DNA methylation: organ specific variations in the methylation pattern within and around ovalbumin and other chicken genes

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Evolutionary analysis of the nucleus-encoded subunits of mammalian cytochrome c oxidase

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Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy

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Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

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Kearns-Sayre syndrome and complex II deficiency

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The investigation of respiratory chain disorders in heart using endomyocardial biopsies

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Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

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Biochemical and molecular investigations in respiratory chain deficiencies

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Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16

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One-step transformation of yeast in stationary phase

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