Published in Biochim Biophys Acta on August 19, 2009
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Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ann Neurol (2003) 1.67
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A whole-organ regenerative medicine approach for liver replacement. Tissue Eng Part C Methods (2011) 1.60
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. Brain (2009) 1.59
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. Behav Brain Res (2007) 1.58
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The c-Raf inhibitor GW5074 provides neuroprotection in vitro and in an animal model of neurodegeneration through a MEK-ERK and Akt-independent mechanism. J Neurochem (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
The ratio of arginine to dimethylarginines is reduced and predicts outcomes in patients with severe sepsis. Crit Care Med (2011) 1.54
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. Ann Neurol (2011) 1.53
Maintenance of human hepatocyte function in vitro by liver-derived extracellular matrix gels. Tissue Eng Part A (2010) 1.50
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. Pediatrics (2003) 1.49
Arginase plays a pivotal role in polyamine precursor metabolism in Leishmania. Characterization of gene deletion mutants. J Biol Chem (2004) 1.49
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Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms. Ann Neurol (2006) 1.47
High-dose oral N-acetylcysteine, a glutathione prodrug, modulates inflammation in cystic fibrosis. Proc Natl Acad Sci U S A (2006) 1.47
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol (2005) 1.46
Identification of oxysterol 7alpha-hydroxylase (Cyp7b1) as a novel retinoid-related orphan receptor alpha (RORalpha) (NR1F1) target gene and a functional cross-talk between RORalpha and liver X receptor (NR1H3). Mol Pharmacol (2007) 1.46
Taurine is a potent activator of extrasynaptic GABA(A) receptors in the thalamus. J Neurosci (2008) 1.45
Effect of hyperhomocysteinemia on protein C activation and activity. Blood (2002) 1.45
The expression of GABAA beta subunit isoforms in synaptic and extrasynaptic receptor populations of mouse dentate gyrus granule cells. J Physiol (2007) 1.42
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
Barriers to the successful treatment of liver disease by hepatocyte transplantation. J Hepatol (2010) 1.41
Magnetic resonance spectroscopy of neurotransmitters in human brain. Ann Neurol (2003) 1.41
Intact synaptic GABAergic inhibition and altered neurosteroid modulation of thalamic relay neurons in mice lacking delta subunit. J Neurophysiol (2003) 1.41
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
Normal acute behavioral responses to moderate/high dose ethanol in GABAA receptor alpha 4 subunit knockout mice. Alcohol Clin Exp Res (2007) 1.39
Adenosine A1 receptor knockout mice develop lethal status epilepticus after experimental traumatic brain injury. J Cereb Blood Flow Metab (2006) 1.37
Abnormal hepatic methionine and glutathione metabolism in patients with alcoholic hepatitis. Alcohol Clin Exp Res (2004) 1.37
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function. Brain Res (2006) 1.37
Cerebral vascular dysfunction mediated by superoxide in hyperhomocysteinemic mice. Stroke (2004) 1.37
Transcriptional signatures of cellular plasticity in mice lacking the alpha1 subunit of GABAA receptors. J Neurosci (2006) 1.35
Compensatory alteration of inhibitory synaptic circuits in cerebellum and thalamus of gamma-aminobutyric acid type A receptor alpha1 subunit knockout mice. J Comp Neurol (2006) 1.34
Measuring the work function of carbon nanotubes with thermionic method. Nano Lett (2008) 1.33
The uremic toxin 3-indoxyl sulfate is a potent endogenous agonist for the human aryl hydrocarbon receptor. Biochemistry (2010) 1.32
S-adenosylmethionine in the chemoprevention and treatment of hepatocellular carcinoma in a rat model. Hepatology (2009) 1.32
Improving the techniques for human hepatocyte transplantation: report from a consensus meeting in London. Cell Transplant (2012) 1.31
From the street to the brain: neurobiology of the recreational drug gamma-hydroxybutyric acid. Trends Pharmacol Sci (2004) 1.31
The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response. Antioxid Redox Signal (2011) 1.31
Frequent aneuploidy among normal human hepatocytes. Gastroenterology (2011) 1.30
Gene expression profiling and differentiation assessment in primary human hepatocyte cultures, established hepatoma cell lines, and human liver tissues. Toxicol Appl Pharmacol (2007) 1.29
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
Trace fear conditioning is enhanced in mice lacking the delta subunit of the GABAA receptor. Learn Mem (2005) 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
Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase. Mol Genet Metab (2007) 1.24
Functional role of GABAergic innervation of the cochlea: phenotypic analysis of mice lacking GABA(A) receptor subunits alpha 1, alpha 2, alpha 5, alpha 6, beta 2, beta 3, or delta. J Neurosci (2006) 1.23
Ethanol modulates synaptic and extrasynaptic GABAA receptors in the thalamus. J Pharmacol Exp Ther (2008) 1.22
Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol (2003) 1.22
Genetic essential tremor in gamma-aminobutyric acidA receptor alpha1 subunit knockout mice. J Clin Invest (2005) 1.22
Protein phosphatase 2A methyltransferase links homocysteine metabolism with tau and amyloid precursor protein regulation. J Neurosci (2007) 1.22
Asymmetric synthesis of conformationally constrained fingolimod analogues--discovery of an orally active sphingosine 1-phosphate receptor type-1 agonist and receptor type-3 antagonist. J Med Chem (2007) 1.22