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المؤلفون: Víctor Valentí, Ramon Bartrons, David Sebastián, Sergio Alonso, David Sánchez-Infantes, Laura Herrero, Javier Salvador, Joan Carles Escolà-Gil, Núria Casals, Raquel Fucho, Vicenta Llorente-Cortés, Antonio Zorzano, Sandra Recalde, Gema Frühbeck, Minéia Weber, Josefina Casas, Joan Francesc Mir, Dolors Serra, M. Carmen Soler-Vázquez, Carla Montironi, Amaia Rodríguez, Paula Mera, Maria Calderon-Dominguez
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname
FASEB Journal
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
FASEB JOURNAL
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauمصطلحات موضوعية: Male, Genetic therapy, adverse event, Obesidad, animal cell, Disease, Biochemistry, oxi, Fetge, 0302 clinical medicine, Glucose homeostasis, genetics, autophagy (cellular), fatty acid oxidation, clinical article, Hígado, C57BL mouse, adult, Malalties del fetge, liver cell, carnitine palmitoyltransferase, priority journal, hyperinsulinemia, diabetes mellitus, Marcadors bioquímics, Fatty‐acid oxidation, Teràpia genètica, Obesitat, carnitine palmitoyltransferase 1A, human, signal transduction, medicine.medical_specialty, Pharmaceutical research, Roux-en-Y gastric bypass, 616.4, oxidative phosphorylation, fatty-acid oxidation, Diet, High-Fat, liver, Article, acylcarnitine, 03 medical and health sciences, Gene therapy, lipid, Diabetes Mellitus, Genetics, Humans, glucose homeostasis, human, Fatty acids, protein expression, Molecular Biology, liver biopsy, mouse, Liver diseases, Oxidación, Carnitine O-Palmitoyltransferase, animal model, nutritional and metabolic diseases, Lipid Metabolism, Adeno associated virus, medicine.disease, CPT1a, ketogenesis, Mice, Inbred C57BL, high-fat diet-induced fatty liver, 030104 developmental biology, Endocrinology, fatty acid, Biomarkers, 030217 neurology & neurosurgery, 0301 basic medicine, Hepatic steatosis, Esteatosis hepática, Genetic enhancement, Àcids grassos, Oxidació, Terapia genética, liver mitochondrion, Non-alcoholic Fatty Liver Disease, insulin resistance, mitochondrial respiration, lipid metabolism, Nonalcoholic fatty liver disease, animal, Investigació farmacèutica, Beta oxidation, Ácidos grasos, Esteatosi hepàtica, Biochemical markers, AAV, biological marker, female, Liver, triacylglycerol, Oxidation-Reduction, lipid diet, Biotechnology, diet-induced obesity, animal experiment, male, Internal medicine, Diabetes mellitus, Oxidation, nonalcoholic fatty liver, medicine, Animals, controlled study, Obesity, Triglycerides, cholesterol level, nonhuman, business.industry, disease model, Autophagy, Lipid biomarker, human tissue, Disease Models, Animal, lipidomics, sphingolipid, hyperglycemia, Steatosis, business, metabolism, Marcadores bioquímicos
وصف الملف: application/pdf
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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: Josep Clotet, Joaquín Ariño, Ivan Muñoz, Núria Casals, Ernesto Simon
المصدر: Yeast. 20:157-169
مصطلحات موضوعية: Genetics, Cyclin-dependent kinase 1, Cell cycle checkpoint, Saccharomyces cerevisiae, Bioengineering, G1/S transition, Protein phosphatase 2, Biology, Cell cycle, biology.organism_classification, Applied Microbiology and Biotechnology, Biochemistry, Cell biology, Protein kinase A, Gene, Biotechnology
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المؤلفون: Ertan Mayatepek, Johannes Zschocke, Rosa Aledo, Juan Pié, Fausto G. Hegardt, Sonja Fiesel, Cecilia Mir, Núria Casals, Georg F. Hoffmann
المصدر: Human Genetics. 109:19-23
مصطلحات موضوعية: Hydroxymethylglutaryl-CoA Synthase, Male, DNA, Complementary, Auxotrophy, DNA Mutational Analysis, Mutant, Mutation, Missense, Gene Expression, Genes, Recessive, CHO Cells, In Vitro Techniques, Biology, Cricetinae, Complementary DNA, Genetics, Animals, Humans, Missense mutation, Coding region, Gene, Genetics (clinical), DNA Primers, Base Sequence, Infant, Molecular biology, Molecular medicine, Human genetics, Mitochondria, Mutagenesis, Site-Directed, Female
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المؤلفون: Adriana Y. Sierra, Laura Herrero, Jerome McDonald, Núria Casals, Fausto G. Hegardt, Mara Dierssen, Ignasi Sahún, Jordi Jacas, Sara Ramírez, Esther Gratacós, Patricia Carrasco, Dolors Serra, Amparo Acker-Palmer
المصدر: J Biol Chem
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Dendritic spine, Physiology, Hippocampus, Morris water navigation task, Hippocampal formation, Endoplasmic Reticulum, Biochemistry, chemistry.chemical_compound, Mice, Pathology, Cells, Cultured, Mice, Knockout, Enzimologia, Behavior, Animal, Pyramidal Cells, Patologia, Lipids, Cell biology, medicine.anatomical_structure, Biosíntesi, Ceramide, Ratolins (Animals de laboratori), Fisiologia, Nerve Tissue Proteins, Biology, Biosynthesis, Ceramides, Gene Expression Regulation, Enzymologic, Lipid Metabolism, Inborn Errors, Regulació genètica, medicine, Genetics, Animals, Maze Learning, Molecular Biology, Genetic regulation, Carnitine O-Palmitoyltransferase, Endoplasmic reticulum, Cell Biology, Dendrites, Lipid Metabolism, Sphingolipid, Metabolisme dels lípids, Lipid metabolism, Mice (Laboratory animals), chemistry, nervous system, Enzymology, Neuron, Energy Metabolism, Genètica
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf6f2bbe44c67561838792758678db62
https://pubmed.ncbi.nlm.nih.gov/22539351 -
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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: 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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