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المؤلفون: Marta Isasa, Natalia Ricco, Samuel Bru, Sara Ramírez, Josep Clotet, Núria Casals, Bernat Crosas, Sara Hernández-Ortega, Javier Jiménez
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Proteasome Endopeptidase Complex, Saccharomyces cerevisiae Proteins, Time Factors, Physiology, Cyclin G1, Cyclin D, Cyclin A, Fisiologia, Cell Cycle Proteins, Saccharomyces cerevisiae, Polo-like kinase, Cell cycle, Fisiología, Models, Biological, Biochemistry, Genes -- Despistaje, Tandem Mass Spectrometry, Cyclin-dependent kinase, Cyclins, Genetic screening, Phosphorylation, Yeast physiology, Molecular Biology, Cyclin-dependent kinase 1, biology, Cell Cycle, Cell Biology, Flow Cytometry, Cyclin-Dependent Kinases, Yeast, Cell biology, Ubiquitin ligase, E3 ubiquitin ligase, Mutation, Cribatge genètic, biology.protein, RNA, human activities, Cyclin A2, Plasmids, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed3d4337509a7a79c2835c2ded67c53
https://doi.org/10.1074/jbc.m112.426593 -
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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: Juan Pié, Michael Champion, Rosa Aledo, C Turner, Núria Casals, Fausto G. Hegardt, R. N. Dalton, Cecilia Mir
المصدر: Journal of Inherited Metabolic Disease. 29:207-211
مصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Male, Heterozygote, medicine.medical_specialty, Mitochondrial Diseases, Genotype, DNA Mutational Analysis, Encephalopathy, Mitochondrion, Carnitine, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), chemistry.chemical_classification, biology, ATP synthase, Metabolic disorder, Infant, medicine.disease, Endocrinology, Enzyme, chemistry, Mutation, HMG-CoA reductase, biology.protein, Ketone bodies, Metabolism, Inborn Errors, medicine.drug
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المؤلفون: Fausto G. Hegardt, Patricia Carrasco, Wei Wang, Su Gao, Timothy H. Moran, Gary D. Lopaschuk, Núria Casals, Dolors Serra, Wendy Keung
المصدر: Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Leptin, Male, medicine.medical_specialty, Physiology, Hypothalamus, Fisiologia, macromolecular substances, Biology, Rats, Sprague-Dawley, chemistry.chemical_compound, Physiology (medical), Internal medicine, medicine, Genetics, Animals, heterocyclic compounds, Carnitine O-palmitoyltransferase, Arc (protein), Fatty acid metabolism, Carnitine O-Palmitoyltransferase, Appetite Regulation, Research, Mutació (Biologia), Mutation (Biology), Cerulenin, Rats, Diet, Malonyl Coenzyme A, Alimentació, enzymes and coenzymes (carbohydrates), Endocrinology, Malonyl-CoA, chemistry, Models, Animal, Mutation, Anorectic, lipids (amino acids, peptides, and proteins), Energy Metabolism, hormones, hormone substitutes, and hormone antagonists, Acyltransferases, Genètica
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db7bfa0e5cabe31bf56085fc6ad56d4
http://hdl.handle.net/2445/167702 -
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المؤلفون: Eduardo López-Viñas, Beatriz Puisac, Antonio Baldellou, Fausto G. Hegardt, Matthew A. Deardorff, Jesús Legarreta, Juan C. de Karam, Ian D. Krantz, Juan Pié, Milagros Ciero, Inés Bueno, María Concepción Gil-Rodríguez, María Teresa Echeverría Arnedo, Encarnación Rubio, Feliciano J. Ramos, Ana Losada, Paulino Gómez-Puertas, Núria Casals, María Pilar Ribate, Mª Teresa Calvo, José L. Olivares
مصطلحات موضوعية: Male, Cornelia de Lange Syndrome, Cohesin complex, Genotype, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, SMC1A, Biology, medicine.disease_cause, Article, Cohort Studies, De Lange Syndrome, Genetics, medicine, Humans, Allele, Genetics (clinical), Alleles, Mutation, Proteins, NIPBL, medicine.disease, Phenotype, Chondroitin Sulfate Proteoglycans, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2441c0ea76af1bde9e629e8d71925d29
https://europepmc.org/articles/PMC2923429/ -
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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: Alessandro Filla, Craig Blackstone, Rut Fadó, Leslie G. Biesecker, Carlo Rinaldi, Giuseppe De Michele, Tobias S. Ulmer, Sara Parodi, Benoît Renvoisé, Philip R. Lee, Thomas Schmidt, Alexis Brice, Alexandra Durr, Núria Casals, Christopher Grunseich, Filippo M. Santorelli, Alan J. Situ, Giovanni Stevanin, George H. Harmison, Janel O. Johnson, Laura C. Bott, Bryan J. Traynor, Kenneth H. Fischbeck, Ke lian Chen
المساهمون: Rinaldi, Carlo, Schmidt, Thoma, Situ, Alan J, Johnson, Janel O, Lee, Philip R, Chen, Ke Lian, Bott, Laura C, Fadó, Rut, Harmison, George H, Parodi, Sara, Grunseich, Christopher, Renvoisé, Benoît, Biesecker, Leslie G, DE MICHELE, Giuseppe, Santorelli, Filippo M, Filla, Alessandro, Stevanin, Giovanni, Dürr, Alexandra, Brice, Alexi, Casals, Núria, Traynor, Bryan J, Blackstone, Craig, Ulmer, Tobias S, Fischbeck, Kenneth H.
المصدر: JAMA Neurology. 72:561
مصطلحات موضوعية: Adult, Gene isoform, Dominant-Negative Mutation, Biology, Article, Gene product, Mice, Exon, symbols.namesake, Genetic linkage, Animals, Humans, Gene, Exome sequencing, Mice, Knockout, Genetics, Sanger sequencing, Carnitine O-Palmitoyltransferase, Animal, Spastic Paraplegia, Hereditary, Middle Aged, Pedigree, Italy, Mutation, symbols, Neurology (clinical), Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39ffff7de92169ccf655f9dc44edffd
https://doi.org/10.1001/jamaneurol.2014.4769 -
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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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