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J Pié

Showing results (11-20 of 23) with videos related to

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Archives of Biochemistry and Biophysics|October 24, 1998
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patientN Zapater, J Pié, J Lloberas, et al.
Biochimica Et Biophysica Acta|December 14, 2011
Regulation of plasma membrane Ca(2+)-ATPase activity by acetylated tubulin: influence of the lipid environmentN E Monesterolo, M R Amaiden, A N Campetelli, et al.
Human Genetics|August 2, 2001
Genetic basis of mitochondrial HMG-CoA synthase deficiencyR Aledo, J Zschocke, J Pié, et al.
Journal of Lipid Research|November 1, 1996
Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiencyC Buesa, J Pié, A Barceló, et al.
Journal of Lipid Research|December 10, 1997
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 aciduriaN Casals, J Pié, C H Casale, et al.
Journal of Cellular Biochemistry|February 2, 2000
5-methoxytryptophol preserves hepatic microsomal membrane fluidity during oxidative stressJ J García, R J Reiter, J J Cabrera, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyaseC Mir, E Lopez-Viñas, R Aledo, et al.
Revista Espanola De Enfermedades Digestivas|March 22, 2003
Extra-gastrointestinal stromal tumour--semiology and clinical therapy peculiaritiesF Martínez-Ródenas, J Pié, M Gómez, et al.
The Biochemical Journal|April 15, 1997
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJ Pié, N Casals, C H Casale, et al.
Nature Communications|July 28, 2021
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptomePatricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Archives of Biochemistry and Biophysics|October 24, 1998
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patientN Zapater, J Pié, J Lloberas, et al.
Biochimica Et Biophysica Acta|December 14, 2011
Regulation of plasma membrane Ca(2+)-ATPase activity by acetylated tubulin: influence of the lipid environmentN E Monesterolo, M R Amaiden, A N Campetelli, et al.
Human Genetics|August 2, 2001
Genetic basis of mitochondrial HMG-CoA synthase deficiencyR Aledo, J Zschocke, J Pié, et al.
Journal of Lipid Research|November 1, 1996
Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiencyC Buesa, J Pié, A Barceló, et al.
Journal of Lipid Research|December 10, 1997
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 aciduriaN Casals, J Pié, C H Casale, et al.
Journal of Cellular Biochemistry|February 2, 2000
5-methoxytryptophol preserves hepatic microsomal membrane fluidity during oxidative stressJ J García, R J Reiter, J J Cabrera, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyaseC Mir, E Lopez-Viñas, R Aledo, et al.
Revista Espanola De Enfermedades Digestivas|March 22, 2003
Extra-gastrointestinal stromal tumour--semiology and clinical therapy peculiaritiesF Martínez-Ródenas, J Pié, M Gómez, et al.
The Biochemical Journal|April 15, 1997
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJ Pié, N Casals, C H Casale, et al.
Nature Communications|July 28, 2021
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptomePatricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, et al.
Pageof 3