L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair (Q28301416)

Journal of Inherited Metabolic Disease

Europe PubMed Central

title

L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair (English)

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author name string

E Van Schaftingen

series ordinal

1

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R Rzem

series ordinal

2

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M Veiga-da-Cunha

series ordinal

3

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language of work or name

English

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publication date

April 2009

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published in

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volume

32

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page(s)

135-42

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issue

2

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exact match

https://scigraph.springernature.com/pub.10.1007/s10545-008-1042-3

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cites work

L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia

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https://api.crossref.org/works/10.1007%2FS10545-008-1042-3

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

21 January 2018

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

21 January 2018

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Aging as war between chemical and biochemical processes: Protein methylation and the recognition of age-damaged proteins for repair

21 January 2018

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12 December 2020

Metabolism of 2-amino-5-hydroxyadipic acid in the rat

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

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Alteration of the specificity of malate dehydrogenase by chemical modulation of an active site arginine

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12 December 2020

Roles of methionine suldfoxide reductases in antioxidant defense, protein regulation and survival

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L-2-hydroxyglutaric acid inhibits mitochondrial creatine kinase activity from cerebellum of developing rats.

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12 December 2020

Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate

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Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism

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Increased protein glycation in fructosamine 3-kinase-deficient mice

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12 December 2020

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria

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12 December 2020

Biochemical and genetic characterization of the membrane-associated malate dehydrogenase (acceptor) from Corynebacterium glutamicum

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12 December 2020

Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria

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12 December 2020

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

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12 December 2020

A successfully treated adult patient with L-2-hydroxyglutaric aciduria

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12 December 2020

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

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12 December 2020

Identification of a dehydrogenase acting on D-2-hydroxyglutarate

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12 December 2020

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

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12 December 2020

Elucidation of the structure of methanopterin, a coenzyme from Methanobacterium thermoautotrophicum, using two-dimensional nuclear-magnetic-resonance techniques

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12 December 2020

Glyceraldehyde-3-phosphate dehydrogenase catalyzed hydration of the 5-6 double bond of reduced beta-nicotinamide adenine dinucleotide (betaNADH). Formation of beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide

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12 December 2020

Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration

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12 December 2020

Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria

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12 December 2020

Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats.

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12 December 2020

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

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12 December 2020

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

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12 December 2020

House cleaning, a part of good housekeeping

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12 December 2020

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene

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12 December 2020

Identification of the sequence encoding N-acetylneuraminate-9-phosphate phosphatase

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12 December 2020

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

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12 December 2020

L-2-hydroxyglutaric aciduria, a defect of metabolite repair

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12 December 2020

Identification, cloning, and heterologous expression of a mammalian fructosamine-3-kinase

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Equilibrium constants of several reactions involved in the fermentation of glutamate

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Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

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L-2-hydroxyglutaric aciduria: a report of 29 patients

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Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain

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L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings

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L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

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Repair of alkylated DNA: recent advances

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Reduction of alpha-ketoglutarate by homogeneous lactic dehydrogenase X of testicular tissue

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12 December 2020

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

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12 December 2020

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12 December 2020

Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid

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12 December 2020

Identification of an archaeal 2-hydroxy acid dehydrogenase catalyzing reactions involved in coenzyme biosynthesis in methanoarchaea

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12 December 2020

Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria

1 reference

12 December 2020

Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria

1 reference

12 December 2020

Medulloblastoma in a child with the metabolic disease L-2-hydroxyglutaric aciduria.

1 reference

12 December 2020

Identification of Escherichia coli YgaF as an L-2-hydroxyglutarate oxidase

1 reference

12 December 2020

Kinetic parameters for the elimination reaction catalyzed by triosephosphate isomerase and an estimation of the reaction's physiological significance

1 reference

12 December 2020