about
Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolaseA frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolites.Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression.Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells.Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview.Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia.Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.Valproate induces in vitro accumulation of long-chain fatty acylcarnitines.Functional correction by antisense therapy of a splicing mutation in the GALT geneGlobal DNA methylation: comparison of enzymatic- and non-enzymatic-based methods.Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation.The TCN2 776CNG polymorphism correlates with vitamin B(12) cellular delivery in healthy adult populations.Polyol additives modulate the in vitro stability and activity of recombinant human phenylalanine hydroxylase.Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis.Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system.Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.Quantification of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent 1,N(6)-etheno derivatives: an adaptation of previously described methodology.5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine.Increased homocysteine and S-adenosylhomocysteine concentrations and DNA hypomethylation in vascular disease.Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis.Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes.Modulation of the activity of newly synthesized human phenylalanine hydroxylase mutant proteins by low-molecular-weight compounds.Intracellular S-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVEC.Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.Molecular basis and clinical presentation of classic galactosemia in a Croatian population.Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.
P50
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