Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
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Isocitrate dehydrogenase mutations: new opportunities for translational researchIDH mutations in tumorigenesis and their potential role as novel therapeutic targets.IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaSuccinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significanceClinical review of genetic epileptic encephalopathiesIsocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolismD2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2Progress in understanding 2-hydroxyglutaric aciduriasSensitive Determination of Onco-metabolites of D- and L-2-hydroxyglutarate Enantiomers by Chiral Derivatization Combined with Liquid Chromatography/Mass Spectrometry Analysis.What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer.Prognostic significance of 2-hydroxyglutarate levels in acute myeloid leukemia in China.A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice.Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.Altered cancer cell metabolism in gliomas with mutant IDH1 or IDH2.ω-Amidase: an underappreciated, but important enzyme in L-glutamine and L-asparagine metabolism; relevance to sulfur and nitrogen metabolism, tumor biology and hyperammonemic diseases.HOT mutation screening in human glioblastomas.L2hgdh Deficiency Accumulates l-2-Hydroxyglutarate with Progressive Leukoencephalopathy and Neurodegeneration.Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
P2860
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P2860
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@en
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@nl
type
label
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@en
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@nl
prefLabel
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@en
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@nl
P2093
P356
P1433
P1476
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
@en
P2093
Abdellatif Errami
Bruno Maranda
Claude Sansaricq
Concetta Meli
Cornelis Jakobs
Cristiano Rizzo
Eduard A Struys
Emma Hobson
Ernst Christensen
Friedrich K Trefz
P304
P356
10.1002/HUMU.21186
P577
2010-03-01T00:00:00Z