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L2HGDH encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. De plus, nous expédions L2HGDH Anticorps (34) et L2HGDH Protéines (5) et beaucoup plus de produits pour cette protéine.
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c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family.
Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases.
Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds.
L2HGDH mutation is not associated with glioblastoma.
We did not find evidence for mutations in the genes D2HGDH (Montrer D2HGDH Kits ELISA) and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours
Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy.
we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutationsthat we have compiled in this study.
encodes a putative mitochondrial protein (Montrer COX6B2 Kits ELISA) with homology to FAD (Montrer BRCA2 Kits ELISA)-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin
data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase
We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD (Montrer BRCA2 Kits ELISA) and levocarnitine.
L2hgdh mutation leads to l-2-hydroxyglutarate accumulation, leukoencephalopathy, and neurodegeneration in mice.
Data describe a mouse model of L-2-hydroxyglutaric aciduria where mouse with l2hgdh gene deficiency accumulates toxic levels of L-2-hydroxyglutarate mostly in brain and testis and shows significant brain spongiosis and learning deficit.
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
L-2-hydroxyglutarate dehydrogenase, mitochondrial
, 2-hydroxyglutarate dehydrogenase
, L-alpha-hydroxyglutarate dehydrogenase
, alpha-hydroxyglutarate oxidoreductase
, alpha-ketoglutarate reductase