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المؤلفون: Eduardo López-Viñas, Gabriel Santpere, Fausto G. Hegardt, Paulino Gómez-Puertas, Sebastián Menao, Juan Pié, Adriana Y. Sierra, Patricia Carrasco, Josep Clotet, Esther Gratacós, Núria Casals, Beatriz Puisac
المصدر: Molecular Genetics and Metabolism. 91:120-127
مصطلحات موضوعية: Models, Molecular, Stereochemistry, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Biochemistry, Protein Structure, Secondary, chemistry.chemical_compound, Endocrinology, Ribose, TIM barrel, Escherichia coli, Genetics, medicine, Humans, Moiety, Amino Acid Sequence, Molecular Biology, Conserved Sequence, chemistry.chemical_classification, biology, Oxo-Acid-Lyases, Substrate (chemistry), Lyase, Adenosine, Recombinant Proteins, Enzyme assay, Enzyme, chemistry, Mutation, biology.protein, Acyl Coenzyme A, Protein Binding, medicine.drug
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المؤلفون: Núria Casals, Eduardo López-Viñas, Beatriz Puisac, Rosa Aledo, Juan Pié, Cecilia Mir, Federica Deodato, Carlo Dionisi-Vici, Fausto G. Hegardt, Paulino Gómez-Puertas, Cristiano Rizzo
المصدر: Journal of Inherited Metabolic Disease. 29:64-70
مصطلحات موضوعية: Male, Protein Conformation, Coenzyme A, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Beta sheet, Biology, medicine.disease_cause, Protein Structure, Secondary, Meglutol, chemistry.chemical_compound, TIM barrel, Genetics, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Child, Amino Acid Metabolism, Inborn Errors, Gene, Genetics (clinical), Mutation, Sequence Homology, Amino Acid, Genetic disorder, Oxo-Acid-Lyases, Lyase, medicine.disease, Biochemistry, chemistry
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المؤلفون: María Teresa Echeverría Arnedo, Mónica Ramos, Paulino Gómez-Puertas, Jan-Jaap Wesselink, Sebastián Menao, Beatriz Puisac, Juan Pié, Ignacio Gimenez, Fausto G. Hegardt, Angeles Pié, Juan C. de Karam, María Concepción Gil-Rodríguez, Feliciano J. Ramos, Núria Casals, María Esperanza Teresa-Rodrigo
المساهمون: Gobierno de Aragón, Universidad de Zaragoza, Ministerio de Educación y Ciencia (España), Instituto de Salud Carlos III, European Commission, Fundación Ramón Areces
المصدر: Molecular Biology Reports; Vol 39
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Blotting, Western, Ketone Bodies, Biology, Mitochondrion, Real-Time Polymerase Chain Reaction, Isozyme, Protein Structure, Secondary, 03 medical and health sciences, Exon, 0302 clinical medicine, Ketogenesis, Genetics, Humans, splice, Molecular Biology, Gene, 030304 developmental biology, 0303 health sciences, Alternative splicing, Computational Biology, Oxo-Acid-Lyases, HMGCL, General Medicine, Lyase, Molecular biology, Biosynthetic Pathways, Mitochondria, Isoenzymes, Alternative Splicing, HEK293 Cells, Biochemistry, Ketone bodies, HMGCS2, 030217 neurology & neurosurgery
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المؤلفون: Eduardo López-Viñas, Angeles Pié, Sebastián Menao, Juan Pié, Fausto G. Hegardt, Cesar H. Casale, Núria Casals, Paulino Gómez-Puertas, Feliciano J. Ramos, Beatriz Puisac
المصدر: Molecular genetics and metabolism. 92(3)
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Sequence Homology, Amino Acid, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Genetic disorder, Oxo-Acid-Lyases, Biology, Lyase, medicine.disease, Biochemistry, Enzyme structure, 3-hydroxy-3-methylglutaryl-CoA lyase, Endocrinology, Molecular genetics, Genotype, Mutation, medicine, Humans, Allelic heterogeneity, Amino Acid Sequence, HMG-CoA Lyase Deficiency, Amino Acid Metabolism, Inborn Errors, Molecular Biology
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المؤلفون: Juan Pié, Susana Moreno, Fausto G. Hegardt, Sebastián Menao, Celia Pérez-Cerdá, Beatriz Puisac, Angeles Pié, Cecilia Mir, Eduardo López-Viñas, Núria Casals, Magdalena Ugarte, Dolores Lluch, Paulino Gómez-Puertas
المصدر: Biophysical chemistry. 115(2-3)
مصطلحات موضوعية: Male, Models, Molecular, Nonsense mutation, Biophysics, medicine.disease_cause, Biochemistry, Protein Structure, Secondary, Exon, TIM barrel, medicine, Humans, Gene, Genetics, Messenger RNA, Mutation, Binding Sites, Base Sequence, Chemistry, Organic Chemistry, Infant, Oxo-Acid-Lyases, Exons, Lyase, Molecular biology, Exon skipping, Protein Structure, Tertiary, Codon, Nonsense, Spain
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المؤلفون: Fausto G. Hegardt, Juan Pié, Beatriz Puisac, Núria Casals
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Genotype, Physiology, Population, DNA Mutational Analysis, Exonic splicing enhancer, Locus (genetics), Biology, Biochemistry, Organic aciduria, Meglutol, Exon, Leucine, Humans, Allele, education, Gene, Genetics, education.field_of_study, Polymorphism, Genetic, Oxo-Acid-Lyases, General Medicine, Exons, Molecular biology, Exon skipping, Mitochondria, Alternative Splicing, Phenotype, Chromosomes, Human, Pair 1, Mutation, Hydroxymethylglutaryl-CoA Reductase Inhibitors
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المؤلفون: Fausto G. Hegardt, Núria Casals, Marie-Odile Rolland, Nuria Zapater, Michel Vidailhet, Juan Pié, Priscille Divry, Jorge Lloberas, Bernard Leroux
المصدر: Archives of biochemistry and biophysics. 358(2)
مصطلحات موضوعية: Proband, Coenzyme A, DNA Mutational Analysis, Restriction Mapping, Biophysics, Biology, medicine.disease_cause, Biochemistry, Meglutol, chemistry.chemical_compound, medicine, Missense mutation, Humans, Point Mutation, Amino Acid Sequence, Allele, Molecular Biology, Alleles, Polymorphism, Single-Stranded Conformational, Genetics, Mutation, Oligonucleotide, Reverse Transcriptase Polymerase Chain Reaction, Point mutation, Oxo-Acid-Lyases, Sequence Analysis, DNA, Molecular biology, Pedigree, chemistry, Child, Preschool, Lyase Gene, Female, Metabolism, Inborn Errors
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المؤلفون: Nuria Zapater, Magdalena Ugarte, J Smeitink, Bwee-Tien Poll-The, Ronald J. A. Wanders, Rosa Lama, Núria Casals, Celia Pérez-Cerdá, Mercedes Martínez-Pardo, Cesar H. Casale, Juan Pié, Begoña Merinero, Juan José Garcı́a-Peñas, José M. Garcı́a-Gonzalez, Fausto G. Hegardt
المساهمون: Other departments
المصدر: Archives of Biochemistry and Biophysics, 349, 129-137
Archives of Biochemistry and Biophysics, 349, 1, pp. 129-137
Archives of biochemistry and biophysics, 349(1), 129-137. Academic Press Inc.مصطلحات موضوعية: Male, Coenzyme A, Nonsense mutation, Biophysics, Inborn errors of metabolism, Biology, medicine.disease_cause, Biochemistry, Meglutol, Exon, chemistry.chemical_compound, medicine, Humans, Erfelijke stofwisselingsziekten, Molecular Biology, Gene, Genetics, Mutation, Mediterranean Region, Infant, Oxo-Acid-Lyases, Exons, Lyase, Molecular biology, Exon skipping, chemistry, Child, Preschool, Lyase Gene
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المؤلفون: Juan Pié, Cristina Mascaró, Marie-Odile Rolland, Priscille Divry, Cesar H. Casale, François Eyskens, Fausto G. Hegardt, Theresa Zabot, Carlos Buesa, Anna Barceló, Diego Haro, Núria Casals
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Nonsense mutation, Molecular Sequence Data, Biology, Biochemistry, Polymerase Chain Reaction, Exon, Humans, Amino Acid Sequence, Transversion, Molecular Biology, Polymorphism, Single-Stranded Conformational, Genetics, Splice site mutation, Base Sequence, Infant, Oxo-Acid-Lyases, Cell Biology, Exons, Lyase, Molecular biology, Exon skipping, Introns, 3-hydroxy-3-methylglutaryl-CoA lyase, Mutagenesis, Lyase Gene, Female, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fac31fda82f5d411f18cecde32d5a6d8
https://europepmc.org/articles/PMC1218323/ -
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المؤلفون: Juan Pié, R. J. R. Wanders, Cesar H. Casale, Núria Casals, A Ribes, Fausto G. Hegardt, Santiago Rodríguez-Segade, Nuria Zapater, M. Castro-Gago
المساهمون: Other departments, Faculteit der Geneeskunde
المصدر: Journal of lipid research, 38(11), 2303-2313. American Society for Biochemistry and Molecular Biology Inc.
Scopus-Elsevier
Journal of Lipid Research, Vol 38, Iss 11, Pp 2303-2313 (1997)
Europe PubMed Central
Journal of Lipid Research, 38, 2303-2313. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: Adolescent, Transcription, Genetic, RNA Splicing, Molecular Sequence Data, QD415-436, Biology, Polymerase Chain Reaction, Biochemistry, Meglutol, Frameshift mutation, Exon, Endocrinology, Complementary DNA, Humans, Missense mutation, Amino Acid Sequence, RNA, Messenger, Genomes, Frameshift Mutation, Gene, Mutación (Biología), Sequence Deletion, Genomas, Genetics, Nucleotides, Mutació (Biologia), Oxo-Acid-Lyases, Sequence Analysis, DNA, Cell Biology, Fibroblasts, Blotting, Northern, Molecular biology, Stop codon, Nucleòtids, Blotting, Southern, genomic DNA, Nucleótidos, Protein Biosynthesis, RNA splicing, Mutation, Female, sense organs, Metabolism, Inborn Errors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0346810f7d4d6bafae52a7fec50bbe85
https://pure.amc.nl/en/publications/a-twobase-deletion-in-exon-6-of-the-3hydroxy3methylglutaryl-coenzyme-a-lyase-hl-gene-producing-the-skipping-of-exons-5-and-6-determines-3hydroxy3methylglutaric-aciduria(2c40d8de-0172-4525-886f-b3f91c4e6434).html
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