Visualitzant Ciències de la Salut per autor/a "Ribes, Antònia"
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Differential HMG‐CoA lyase expression in human tissues provides clues about 3‐hydroxy‐3‐methylglutaric aciduria
Puisac, Beatriz; Arnedo, María; Casale, César H.; Ribate, María Pilar; Castiella, Tomás; Ramos, Feliciano J.; Ribes, Antònia; Pérez-Cerdá, Celia; Casals i Farré, Núria; Hegardt, Fausto G.; Pié, Juan (Journal of Inherited Metabolic Disease, 2010)3‐Hydroxy‐3‐methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3‐hydroxy‐3‐methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final ... -
Ghrelin causes a decline in GABA release by reducing fatty acid oxidation in cortex
Mir, Joan Francesc; Zagmutt, Sebastián; Lichtenstein, Mathieu P.; García-Villoria, Judit; Weber, Minéia; Gracia, Ana; Fabriàs, Gemma; Casas, Josefina; López, Miguel; Casals i Farré, Núria; Ribes, Antònia; Suñol, Cristina; Herrero Rodríguez, Laura; Serra, Dolors (Springer Nature, 2018)Lipid metabolism, specifically fatty acid oxidation (FAO) mediated by carnitine palmitoyltransferase (CPT) 1A, has been described to be an important actor of ghrelin action in hypothalamus. However, it ... -
A two-base deletion in exon 6 of the 3-hydroxy-3- methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
Casals i Farré, Núria; Pié, Juan; Casale, César H.; Zapater, Núria; Ribes, Antònia; Castro-Gago, Manuel; Rodriguez-Segade, Santiago; Wanders, Ronald J. R.; Hegardt, Fausto G. (Journal of Lipid Research, 1997)A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the ...