7 documents found, page 1 of 1
Pyruvate dehydrogenase deficiency
Silva, Maria Joao; Pinheiro, Ana; Eusebio, Filomena; Gaspar, Ana; de Almeida, Isabel Tavares; Rivera, IsabelThe pyruvate dehydrogenase complex (PDHc) is an intramitochondrial multienzyme system, which plays a key role in aerobic glucose metabolism by catalysing the oxidative decarboxylation of pyruvate to acetyl-CoA. Genetic defects in the PDHc lead to lactic a
Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Por...
Diogo, Luisa; Grazina, Manuela; Garcia, Paula; Rebelo, Olinda; Veiga, Margarida Alte; Cuevas, Juan; Vilarinho, Laura; de Almeida, Isabel TavaresThe present study reviewed mitochondrial respiratory chain disorders diagnosed at the sole tertiary pediatric hospital in the Centro region of Portugal and estimated incidence and prevalence in this region. The Bernier criteria were used to retrospectivel
Modulation of the Activity of Newly Synthesized Human Phenylalanine Hydroxylase...
Nascimento, Catia; Leandro, Joao; de Almeida, Isabel Tavares; Leandro, PaulaPhenylketonuria, the most frequent disorder of amino acid metabolism, is caused by a deficient activity of human phenylalanine hydroxylase (hPAH). Rescue of the enzyme activity of several recombinant hPAH mutant forms (I65T, R261Q, R270K and V388M) by low molecular weight compounds namely glycerol, trimethylamine N-oxide (TMAO) and sodium 4-phenylbutyrate (4-PB) was investigated using a prokaryotic expression m...
Mechanisms of valproic acid toxicity
Aires, Catia C. P.; van Cruchten, Arno; Ruiter, Jos; Ijist, Lodewijk; de Almeida, Isabel Tavares; Duran, Marinus; Wanders, Ronald J. A.
Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial ...
Aires, Catia C. P.; Soveral, Graca; Luis, Paula B. M.; ten Brink, Herman J.; de Almeida, Isabel Tavares; Duran, Marinus; Wanders, Ronald J. A.The pyruvate uptake rate in inverted submitochondrial vesicles prepared from rat liver was optimized and further characterized; the potential inhibitory effects of the anticonvulsive drug valproic acid or 2-n-propyl-pentanoic acid (VPA), Delta(4)-valproic acid or 2-n-propyl-4-pentenoic acid and the respective coenzyme A ( CoA) conjugates were studied in the presence of a proton gradient. All tested VPA metaboli...
Studies on the extra-mitochondrial CoA-ester formation of valproic and Delta(4)...
Aires, Catia C. P.; Ruiter, Jos P. N.; Luis, Paula B. M.; ten Brink, Herman J.; Ijlst, Lodewijk; de Almeida, Isabel Tavares; Duran, MarinusThe hypothesis whether valproic acid (VPA) and its main microsomal metabolite, Delta(4) -valproic acid, can be activated to the respective CoA esters in the cell cytosol was investigated. The valproyl-CoA formation was measured in different subcellular fr
Inhibition of adenine nucleotide transport in rat liver mitochondria by long-ch...
Ventura, Fatima V.; de Almeida, Isabel Tavares; Wanders, Ronald J. A.Long-chain acyl-coenzyme A esters (LCAC), which may accumulate under different pathological conditions and especially in patients with a mitochondrial fatty acid beta-oxidation defect, have long been known as potent inhibitors of several enzymes in multip