Listando por autor/a "Hegardt, Fausto G."
Mostrando ítems 1-8 de 8
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Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency
Buesa, Carlos; Pié, Juan; Barceló, Ana; Casals i Farré, Núria; Mascaró, Cristina; Casale, César H.; Haro, Diego; Duran, Marinus; Smeitink, Jan A. M.; Hegardt, Fausto G. (Journal of Lipid Research, 1996-11)A novel point mutation in the 3-hydroxy-3methyl-glutaryl coenzyme A lyase gene was found in a Turkish patient with homozygous 3-hydroxy-3-methylglutaric acidemia. Amplification by RT-PCR of the mRNA ... -
Blattella germanica has two HMG-CoA synthase genes. Both are regulated in the ovary during the gonadotrophic cycle
Buesa, Carlos; Martínez-Gonzalez, José; Casals i Farré, Núria; Haro, Diego; Piulachs, Maria-Dolors; Bellés, Xavier; Hegardt, Fausto G. (Journal of Biological Chemistry, 1994-04-22)The isoprenoid pathway leads to various essential non-sterol products in insects. These end products have a crucial role in growth, differentiation, sexual maturation, and reproduction. 3-Hydroxy-3-me ... -
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol
Arnedo, María; Menao, Sebastián; Puisac, Beatriz; Teresa-Rodrigo, María E.; Gil-Rodríguez, María C.; López-Viñas, Eduardo; Gómez-Puertas, Paulino; Casals i Farré, Núria; Casale, César H.; Hegardt, Fausto G.; Pié, Juan (Journal of Lipid Research, 2012)A novel lyase activity enzyme is characterized for the first time: HMG-CoA lyase-like1 (er-cHL), which is a close homolog of mitochondrial HMG-CoA lyase (mHL). Initial data show that there are nine ... -
CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity
Sierra, Adriana Y.; Gratacòs-Batlle, Esther; Carrasco, Patricia; Clotet Erra, Josep; Ureña, Jesús; Serra, Dolors; Asins, Guillermina; Hegardt, Fausto G.; Casals i Farré, Núria (Journal of Biological Chemistry, 2008)CPT1c is a carnitine palmitoyltransferase 1 (CPT1) isoform that is expressed only in the brain. The enzyme has recently been localized in neuron mitochondria. Although it has high sequence identity with ... -
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 ... -
Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition
Morillas, Montserrat; Gómez-Puertas, Paulino; Bentebibel, Assia; Sellés, Eva; Casals i Farré, Núria; Valencia, Alfonso; Hegardt, Fausto G.; Asins, Guillermina; Serra, Dolors (Journal of Biological Chemistry, 2003-03-14)Carnitine palmitoyltransferase (CPT) I, which catalyzes the conversion of palmitoyl-CoA to palmitoylcarnitine facilitating its transport through the mitochondrial membranes, is inhibited by malonyl-CoA. ... -
Structural (betaalpha) 8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
Casals i Farré, Núria; Gómez-Puertas, Paulino; Pié, Juan; Mir, Cecilia; Roca, Ramón; Puisac, Beatriz; Aledo, Rosa; Clotet Erra, Josep; Menao, Sebastián; Serra, Dolors; Asins, Guillermina; Till, Jacqueline; Elias-Jones, Alun C.; Cresto, Juan C.; Chamoles, Nestor A.; Abdenur, Jose E.; Mayatepek, Ertan; Besley, Guy; Valencia, Alfonso; Hegardt, Fausto G. (Journal of Biological Chemistry, 2003)This study describes three novel homozygous missense mutations (S75R, S201Y, and D204N) in the 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase gene, which caused 3-hydroxy-3-methylglutaric aciduria in ... -
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 ...