L-2-hydroxyglutaric aciduria, a defect of metabolite repair (Q40113073)

17 September 2017

L-2-hydroxyglutaric aciduria, a defect of metabolite repair (English)

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L-2-hydroxyglutaric aciduria

17 September 2017

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R Rzem

1

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17 September 2017

M-F Vincent

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2

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17 September 2017

E Van Schaftingen

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3

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17 September 2017

M Veiga-da-Cunha

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4

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17 September 2017

21 June 2007

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Journal of Inherited Metabolic Disease

17 September 2017

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17 September 2017

30

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17 September 2017

5

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17 September 2017

681-689

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https://scigraph.springernature.com/pub.10.1007/s10545-007-0487-0

17 September 2017

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cites work

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/10.1007%2FS10545-007-0487-0

Isolation and properties of malic dehydrogenase from ox-heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0487-0

Fructosamine 3-kinase is involved in an intracellular deglycation pathway in human erythrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0487-0

Mitochondrial metabolism in different thyroid states

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0487-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0487-0

The redox state of free nicotinamide-adenine dinucleotide in the cytoplasm and mitochondria of rat liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-007-0487-0

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

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

Alpha-hydroxyglutaric acid synthetase

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12 December 2020

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

1 reference

12 December 2020

Rat liver mitochondrial malate dehydrogenase: purification, kinetic properties, and role in ethanol metabolism

1 reference

12 December 2020

Spontaneous tumorigenesis in mice defective in the MTH1 gene encoding 8-oxo-dGTPase

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12 December 2020

L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

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12 December 2020

Increased protein glycation in fructosamine 3-kinase-deficient mice

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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

Incorporation and utilization of [3-13C]lactate and [1,2-13C]acetate by rat skeletal muscle

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12 December 2020

Limited accumulation of damaged proteins in l-isoaspartyl (D-aspartyl) O-methyltransferase-deficient mice.

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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

Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

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12 December 2020

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

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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

Dehydrogenase regulation of metabolite oxidation and efflux from mitochondria in intact hearts

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12 December 2020

Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy

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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

Cerebral metabolic state following complete compression ischemia

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12 December 2020

Equilibrium constants of several reactions involved in the fermentation of glutamate

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12 December 2020

Characterization of the functional role of allosteric site residue Asp102 in the regulatory mechanism of human mitochondrial NAD(P)+-dependent malate dehydrogenase (malic enzyme).

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12 December 2020

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

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

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12 December 2020

Analytical study of microsomes and isolated subcellular membranes from rat liver. II. Preparation and composition of the microsomal fraction

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12 December 2020

Conversion of a synthetic fructosamine into its 3-phospho derivative in human erythrocytes

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12 December 2020

The formation of methylglyoxal from triose phosphates. Investigation using a specific assay for methylglyoxal.

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12 December 2020

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

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12 December 2020

10.1007/S10545-007-0487-0

Identifiers

DOI

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Dimensions Publication ID

17 September 2017

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