Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency
Puisac, Beatriz, Teresa-Rodrigo, María Esperanza, Arnedo, María, Gil-Rodríguez, María Concepción, Pérez-Cerdá, Celia, Ribes, Antonia, Pié, Ángeles, Bueno, Gloria, Gómez-Puertas, Paulino, Pié, Juan
Published in Molecular genetics and metabolism (01.04.2013)
Published in Molecular genetics and metabolism (01.04.2013)
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Molecular genetics of HMG-CoA lyase deficiency
Pié, Juan, López-Viñas, Eduardo, Puisac, Beatriz, Menao, Sebastián, Pié, Angeles, Casale, Cesar, Ramos, Feliciano J., Hegardt, Fausto G., Gómez-Puertas, Paulino, Casals, Núria
Published in Molecular genetics and metabolism (01.11.2007)
Published in Molecular genetics and metabolism (01.11.2007)
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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
Menao, Sebastián, López-Viñas, Eduardo, Mir, Cecilia, Puisac, Beatriz, Gratacós, Esther, Arnedo, María, Carrasco, Patricia, Moreno, Susana, Ramos, Mónica, Gil, María Concepción, Pié, Ángeles, Ribes, Antonia, Pérez-Cerda, Celia, Ugarte, Magdalena, Clayton, Peter T, Korman, Stanley H, Serra, Dolors, Asins, Guillermina, Ramos, Feliciano J, Gómez-Puertas, Paulino, Hegardt, Fausto G, Casals, Nuria, Pié, Juan
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway
Puisac, Beatriz, Ramos, Mónica, Arnedo, María, Menao, Sebastián, Gil-Rodríguez, María Concepción, Teresa-Rodrigo, María Esperanza, Pié, Angeles, de Karam, Juan Carlos, Wesselink, Jan-Jaap, Giménez, Ignacio, Ramos, Feliciano J., Casals, Nuria, Gómez-Puertas, Paulino, Hegardt, Fausto G., Pié, Juan
Published in Molecular biology reports (01.04.2012)
Published in Molecular biology reports (01.04.2012)
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Is Mortalin a Candidate Gene for T1DM ?
Johannesen, Jesper, Pie, Angeles, Karlsen, Allan Ertmann, Larsen, Zenia Marian, Jensen, Allan, Vissing, Henrik, Kristiansen, Ole Peter, Pociot, Flemming, Nerup, Jørn
Published in Autoimmunity (Chur, Switzerland) (01.09.2004)
Published in Autoimmunity (Chur, Switzerland) (01.09.2004)
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Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha) 8 TIM Barrel model of HL
Puisac, Beatriz, López-Viñas, Eduardo, Moreno, Susana, Mir, Cecilia, Pérez-Cerdá, Celia, Menao, Sebastián, Lluch, Dolores, Pié, Angeles, Gómez-Puertas, Paulino, Casals, Nuria, Ugarte, Magdalena, Hegardt, FaustoG, Pié, Juan
Published in Biophysical chemistry (01.04.2005)
Published in Biophysical chemistry (01.04.2005)
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