(Q24307435)

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The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

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title

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase (English)

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main subject

L-2-hydroxyglutarate dehydrogenase

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stated in

GOA release 2020-03-11

2-hydroxyglutarate dehydrogenase activity

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stated in

GOA release 2020-03-11

L-2-hydroxyglutaric aciduria

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R Rzem

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E Van Schaftingen

series ordinal

2

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M Veiga-da-Cunha

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3

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language of work or name

English

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publication date

January 2006

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published in

Biochimie

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volume

88

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issue

1

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page(s)

113-6

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cites work

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death

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https://api.crossref.org/works/10.1016%2FJ.BIOCHI.2005.06.005

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L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

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https://api.crossref.org/works/10.1016%2FJ.BIOCHI.2005.06.005

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7 January 2021

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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https://api.crossref.org/works/10.1016%2FJ.BIOCHI.2005.06.005

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Import and assembly of proteins into mitochondria of mammalian cells

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Protein translocation into mitochondria: the role of TIM complexes

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7 January 2021

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The oxidation of l(-)alpha-hydroxyglutaric acid in animal tissues

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https://api.crossref.org/works/10.1016%2FJ.BIOCHI.2005.06.005

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Identification of a dehydrogenase acting on D-2-hydroxyglutarate

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A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

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Amino acid conservation in animal glucokinases. Identification of residues implicated in the interaction with the regulatory protein

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7 January 2021

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L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FJ.BIOCHI.2005.06.005

retrieved

7 January 2021

based on heuristic

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Protein import into mitochondria

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1016%2FJ.BIOCHI.2005.06.005

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7 January 2021

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Identifiers

DOI

10.1016/J.BIOCHI.2005.06.005

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PubMed ID

16005139

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(Q24307435)

The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase

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