Progress in understanding 2-hydroxyglutaric acidurias - PMC
Accumulation of d -2-hydroxyglutarate (D-2-HG) and/or l -2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the …
Structure, substrate specificity, and catalytic mechanism of …
2021年1月12日 · D-2-hydroxyglutarate dehydrogenase (D-2-HGDH) catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) into 2-oxoglutarate, and genetic D-2-HGDH deficiency leads...
Acidic pH Is a Metabolic Switch for 2-Hydroxyglutarate …
2016年9月16日 · In addition to synthesis, 2-HG levels are regulated by a pair of dehydrogenases that convert 2-HG back to α-KG (i.e. l-2-HGDH and d-2-HGDH). Mutations in these enzymes …
Structure, substrate specificity, and catalytic mechanism of human …
2021年1月12日 · This work reports the crystal structures of human D-2-HGDH in apo form and in complexes with D-2-HG, D-malate, D-lactate, L-2-HG, and 2-oxoglutarate, respectively. D-2 …
An interesting case of metabolic dystonia: L-2 hydroxyglutaric …
L-2-hydroxyglutaric aciduria (L-2-HGA), a neurometabolic disorder caused by mutations in the L-2 hydroxyglutarate dehydrogenase (L-2-HGDH) gene, presents with psychomotor retardation, …
人类D-2-羟基戊二酸脱氢酶的生化特征和两种与疾病相关的变异揭 …
我们可以证明hD2HGDH是一种FAD依赖性蛋白，它能够催化D-2HG和D-乳酸分别氧化为α-酮戊二酸和丙酮酸。 获得了这两种变体作为载脂蛋白，因此具有催化活性。 FAD的添加无法恢复变 …
Chiral 2-hydroxyglutarates (2-OHG) are important molecular signatures of their specific biochemical pathways and inborn errors of metabolism, for both healthy and diseased …
丁建平组揭示了D-2-羟戊二酸脱氢酶D-2-HGDH对底物特异性识别 …
2021年1月13日 · 该工作揭示了人源FAD依赖的D-2-羟戊二酸脱氢酶（D-2-HGDH）对底物特异性识别和催化反应的分子机制，阐述了D-2-HGDH突变体在遗传学疾病D-2-羟戊二酸尿酸症发生 …
Progress in understanding 2-hydroxyglutaric acidurias
2012年3月6日 · Accumulation of D-2-hydroxyglutarate (D-2-HG) and/or L-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review …
Progress in understanding 2-hydroxyglutaric acidurias
2012年3月6日 · Accumulation of d -2-hydroxyglutarate (D-2-HG) and/or l -2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review …