Published in Clin Chem on May 27, 2004
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature (2009) 19.65
2-hydroxyglutarate production, but not dominant negative function, is conferred by glioma-derived NADP-dependent isocitrate dehydrogenase mutations. PLoS One (2011) 2.00
Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis (2012) 1.78
A heterozygous IDH1R132H/WT mutation induces genome-wide alterations in DNA methylation. Genome Res (2012) 1.63
Hypoxia-Mediated Increases in L-2-hydroxyglutarate Coordinate the Metabolic Response to Reductive Stress. Cell Metab (2015) 1.34
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis (2006) 1.33
A joint analysis of metabolomics and genetics of breast cancer. Breast Cancer Res (2014) 1.04
2-Hydroxyglutarate is not a metabolite; D-2-hydroxyglutarate and L-2-hydroxyglutarate are! Proc Natl Acad Sci U S A (2013) 1.03
Plant D-2-hydroxyglutarate dehydrogenase participates in the catabolism of lysine especially during senescence. J Biol Chem (2011) 0.91
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis (2014) 0.89
Autophagy and oxidative stress in gliomas with IDH1 mutations. Acta Neuropathol (2013) 0.89
Enzyme redesign guided by cancer-derived IDH1 mutations. Nat Chem Biol (2012) 0.88
L(+) and D(-) lactate are increased in plasma and urine samples of type 2 diabetes as measured by a simultaneous quantification of L(+) and D(-) lactate by reversed-phase liquid chromatography tandem mass spectrometry. Exp Diabetes Res (2012) 0.85
Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines. Oncotarget (2015) 0.84
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2. Nat Commun (2015) 0.83
The epigenetic role of vitamin C in health and disease. Cell Mol Life Sci (2016) 0.83
Enantiomer-specific and paracrine leukemogenicity of mutant IDH metabolite 2-hydroxyglutarate. Leukemia (2016) 0.82
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol (2011) 0.80
L-2-Hydroxyglutarate production arises from noncanonical enzyme function at acidic pH. Nat Chem Biol (2017) 0.78
Rotenone Stereospecifically Increases (S)-2-Hydroxyglutarate in SH-SY5Y Neuronal Cells. Chem Res Toxicol (2015) 0.78
Saccharomyces cerevisiae Forms d-2-Hydroxyglutarate and Couples Its Degradation to d-Lactate Formation via a Cytosolic Transhydrogenase. J Biol Chem (2016) 0.78
Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy. Leukemia (2015) 0.78
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis (2009) 0.78
Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. Biochim Biophys Acta (2016) 0.77
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr (2008) 0.76
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. J Inherit Metab Dis (2016) 0.76
Intracerebral Distribution of the Oncometabolite d-2-Hydroxyglutarate in Mice Bearing Mutant Isocitrate Dehydrogenase Brain Tumors: Implications for Tumorigenesis. Front Oncol (2016) 0.75
Mutant IDH1 Disrupts the Mouse Subventricular Zone and Alters Brain Tumor Progression. Mol Cancer Res (2017) 0.75
Pan-mutant-IDH1 inhibitor BAY1436032 is highly effective against human IDH1 mutant acute myeloid leukemia in vivo. Leukemia (2017) 0.75
Quantification of 2-Hydroxyglutarate Enantiomers by Liquid Chromatography-mass Spectrometry. Bio Protoc (2016) 0.75
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet (2004) 4.08
Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress. J Biol (2007) 2.70
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol (2010) 2.52
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease. Clin Chem (2003) 2.15
Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis (2012) 1.78
Unusual variants of Alexander's disease. Ann Neurol (2005) 1.76
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2012) 1.62
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab (2011) 1.61
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
A catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth. Proc Natl Acad Sci U S A (2008) 1.54
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. Ann Neurol (2011) 1.53
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain (2010) 1.47
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat (2003) 1.42
Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells. Cell Metab (2011) 1.40
Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria. Clin Chem (2003) 1.40
The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response. Antioxid Redox Signal (2011) 1.31
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry (2003) 1.29
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet (2002) 1.27
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet (2007) 1.27
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat (2007) 1.26
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab (2004) 1.26
Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol (2003) 1.22
Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development. BMC Dev Biol (2008) 1.19
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet (2004) 1.18
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev (2011) 1.16
Global DNA methylation measured by liquid chromatography-tandem mass spectrometry: analytical technique, reference values and determinants in healthy subjects. Clin Chem Lab Med (2007) 1.16
Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response. Nat Biotechnol (2009) 1.14
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? Dev Med Child Neurol (2011) 1.14
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet (2011) 1.14
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation. Eur J Pediatr (2006) 1.14
Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria). J Pharmacol Exp Ther (2002) 1.13
A novel gamma-hydroxybutyrate dehydrogenase: identification and expression of an Arabidopsis cDNA and potential role under oxygen deficiency. J Biol Chem (2003) 1.13
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr (2008) 1.12
Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci (2005) 1.12
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat (2010) 1.11
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis (2010) 1.10
Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC. J Mol Med (Berl) (2005) 1.10
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis (2013) 1.09
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab (2002) 1.09
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem (2003) 1.09
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr (2006) 1.09
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal (2011) 1.08
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab (2005) 1.08
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet (2006) 1.06
Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry. Clin Chem Lab Med (2006) 1.05
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat (2008) 1.04
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology (2009) 1.04
Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation. FEBS Lett (2010) 1.03
Serum sarcosine is not a marker for prostate cancer. Ann Clin Biochem (2010) 1.02
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol (2007) 1.02
The Arabidopsis her1 mutant implicates GABA in E-2-hexenal responsiveness. Plant J (2007) 1.01
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol (2009) 1.01
Investigations by mass isotopomer analysis of the formation of D-2-hydroxyglutarate by cultured lymphoblasts from two patients with D-2-hydroxyglutaric aciduria. FEBS Lett (2004) 1.00
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child (2006) 1.00
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J Inherit Metab Dis (2012) 0.99
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat (2007) 0.99
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol (2002) 0.99
Transaldolase deficiency in two new patients with a relative mild phenotype. Mol Genet Metab (2009) 0.98
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat (2010) 0.98
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency. Mol Genet Metab (2011) 0.98
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. J Pediatr Gastroenterol Nutr (2011) 0.97
Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase. Metabolism (2006) 0.96
The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem (2003) 0.95
Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status. J Nutr Biochem (2007) 0.95
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. Clin Chem (2004) 0.94
Transaldolase deficiency in a two-year-old boy with cirrhosis. Mol Genet Metab (2008) 0.94
Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatr Neurol (2010) 0.94
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia (2009) 0.94
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). Biochim Biophys Acta (2009) 0.94
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab (2012) 0.93
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies. Mol Genet Metab (2009) 0.93
Spontaneous and precipitated withdrawal after chronic intragastric administration of gamma-hydroxybutyrate (GHB) in baboons. Psychopharmacology (Berl) (2005) 0.93
Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol (2003) 0.92
Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase. Biochem J (2002) 0.92
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy. Ann Neurol (2005) 0.92
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. JIMD Rep (2013) 0.92
Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism. Mol Genet Metab (2004) 0.91
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency. Mol Ther (2004) 0.91