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1Academic Journal
المؤلفون: Tiziana Ginex, Clara Marco-Marín, Miłosz Wieczór, Carlos P Mata, James Krieger, Paula Ruiz-Rodriguez, Maria Luisa López-Redondo, Clara Francés-Gómez, Roberto Melero, Carlos Óscar Sánchez-Sorzano, Marta Martínez, Nadine Gougeard, Alicia Forcada-Nadal, Sara Zamora-Caballero, Roberto Gozalbo-Rovira, Carla Sanz-Frasquet, Rocío Arranz, Jeronimo Bravo, Vicente Rubio, Alberto Marina, IBV-Covid19-Pipeline, Ron Geller, Iñaki Comas, Carmen Gil, Mireia Coscolla, Modesto Orozco, José Luis Llácer, Jose-Maria Carazo
المصدر: PLoS Pathogens, Vol 18, Iss 11, p e1010995 (2022)
مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Tiziana Ginex, Clara Marco-Marín, Miłosz Wieczór, Carlos P Mata, James Krieger, Paula Ruiz-Rodriguez, Maria Luisa López-Redondo, Clara Francés-Gómez, Roberto Melero, Carlos Óscar Sánchez-Sorzano, Marta Martínez, Nadine Gougeard, Alicia Forcada-Nadal, Sara Zamora-Caballero, Roberto Gozalbo-Rovira, Carla Sanz-Frasquet, Rocío Arranz, Jeronimo Bravo, Vicente Rubio, Alberto Marina, IBV-Covid19-Pipeline, Ron Geller, Iñaki Comas, Carmen Gil, Mireia Coscolla, Modesto Orozco, José Luis Llácer, Jose-Maria Carazo
المصدر: PLoS Pathogens, Vol 18, Iss 7, p e1010631 (2022)
مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Alicia Forcada-Nadal, José Luis Llácer, Asunción Contreras, Clara Marco-Marín, Vicente Rubio
المصدر: Frontiers in Molecular Biosciences, Vol 5 (2018)
مصطلحات موضوعية: protein structure, nitrogen regulation, gene expression regulation, signaling, PII complexes, PipX complexes, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4Academic Journal
المؤلفون: Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11847
مصطلحات موضوعية: movement disorders, ataxia, cerebellar atrophy, neurodegeneration with brain iron accumulation (NBIA), gene panel, exome sequencing
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms231911847
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5Academic Journal
المؤلفون: Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
المساهمون: Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/31402623; info:eu-repo/semantics/altIdentifier/wos/WOS:000478201700001; volume:6; issue:8; firstpage:1533; lastpage:1540; numberofpages:8; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11585/700599; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070613575; https://onlinelibrary.wiley.com/journal/23289503
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6
المؤلفون: Dolores Martínez-Rubio, Ángela Rodríguez-Prieto, Paula Sancho, Carmen Navarro-González, Nerea Gorría-Redondo, Javier Miquel-Leal, Clara Marco-Marín, Alison Jenkins, Mario Soriano-Navarro, Alberto Hernández, Belén Pérez-Dueñas, Pietro Fazzari, Sergio Aguilera-Albesa, Carmen Espinós
المساهمون: Instituto de Salud Carlos III, European Commission, Ministerio de Economía y Competitividad (España), Fundació La Marató de TV3, Generalitat Valenciana, Ministerio de Ciencia e Innovación (España), Marco-Marín, Clara, Institut Català de la Salut, [Martínez-Rubio D] Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. Joint Unit CIPF-IIS La Fe Rare Diseases, Valencia, Spain. [Rodríguez-Prieto Á, Navarro-González C, Miquel-Leal J] Cortical Circuits in Health and Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [Sancho P] Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [Gorría-Redondo N] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain. [Pérez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: HUMAN MOLECULAR GENETICS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Scientiaمصطلحات موضوعية: Pediatria, Peroxiredoxin III, Cerebel - Degeneració, Cerebellar Ataxia, Otros calificadores::Otros calificadores::/genética [Otros calificadores], aminoácidos, péptidos y proteínas::proteínas::proteínas mitocondriales [COMPUESTOS QUÍMICOS Y DROGAS], General Medicine, Atàxia - Aspectes genètics, Mitochondrial Proteins, Mice, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::degeneraciones espinocerebelosas [ENFERMEDADES], enfermedades del sistema nervioso::manifestaciones neurológicas::discinesias::ataxia [ENFERMEDADES], Amino Acids, Peptides, and Proteins::Proteins::Mitochondrial Proteins [CHEMICALS AND DRUGS], Mutation, Other subheadings::Other subheadings::/genetics [Other subheadings], Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Spinocerebellar Degenerations [DISEASES], Genetics, Humans, Animals, Ataxia, Molecular Biology, Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Dyskinesias::Ataxia [DISEASES], HeLa Cells, Spinocerebellar Degenerations
وصف الملف: application/pdf
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7
المؤلفون: Michele Panciera, Emilio Lence, Ángela Rodríguez, Begoña Gracia, José A. Aínsa, Clara Marco-Marín, Vicente Rubio, Carlos Roque Duarte Correia, Concepción González-Bello
المساهمون: Ministerio de Ciencia e Innovación (España), Axencia Galega de Innovación, Xunta de Galicia, European Commission, Fundação de Amparo à Pesquisa do Estado de São Paulo, Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil), Ministerio de Economía, Industria y Competitividad (España), Fundación Ramón Areces, Universidade de Santiago de Compostela. Departamento de Química Orgánica
المصدر: Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Digital.CSIC. Repositorio Institucional del CSICمصطلحات موضوعية: Pharmacology, Binding Sites, Proline, Organic Chemistry, Antitubercular Agents, Glutamic Acid, General Medicine, Mycobacterium tuberculosis, Glutamate-5-kinase, Allosteric inhibition, Pyrroloquinoline, Target shape-motionGlutamate-5-kinaseMolecular dynamics simulation studiesPyrroloquinoline, Drug Discovery, Quinolines, Tuberculosis, Target shape-motion, Molecular dynamics simulation studies
وصف الملف: application/pdf
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8
المؤلفون: Herminia Argente‐Escrig, Juan J. Vílchez, Marina Frasquet, Nuria Muelas, Inmaculada Azorín, Roger Vílchez, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Juan F. Vázquez‐Costa, Fernando Mas‐Estellés, Clara Marco‐Marín, Carmen Espinós, Pablo Serrano‐Lorenzo, Miguel A. Martin, Vincenzo Lupo, Teresa Sevilla
المساهمون: Fundación Isabel Gemio, Generalitat Valenciana, Instituto de Salud Carlos III, European Commission, Marco-Marín, Clara [0000-0002-8813-3515], Marco-Marín, Clara
المصدر: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Digital.CSIC. Repositorio Institucional del CSIC
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Feمصطلحات موضوعية: Mitochondrial disorders, tRNA Methyltransferases, Mitochondrial Diseases, Histology, Inherited neuropathy, Mitochondrial neuropathies, Peripheral Nervous System Diseases, Syndrome, Pathology and Forensic Medicine, Phenotype, mitochondrial disorders, RNA, Transfer, Neurology, inherited neuropathy, TRMT5, Physiology (medical), Mutation, Humans, Neurology (clinical), mitochondrial neuropathies
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9
المؤلفون: Vicente Rubio, Juan Manuel Escamilla-Honrubia, Marco Seri, Clara Marco-Marín, José Luis Llácer, Emanuele Panza
المصدر: Journal of Inherited Metabolic Disease. 43:657-670
مصطلحات موضوعية: Genetics, 0303 health sciences, Neurocutaneous Syndromes, 030305 genetics & heredity, Hyperammonemia, Ornithine, Biology, medicine.disease, Compound heterozygosity, Short stature, 03 medical and health sciences, chemistry.chemical_compound, chemistry, Urea cycle, medicine, medicine.symptom, Gene, Genetics (clinical), 030304 developmental biology, Cutis laxa
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10
المؤلفون: Clara Marco-Marín, Vicente Rubio, José Luis Llácer
المصدر: The FEBS Journal. 287:439-442
مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Arginine, Effector, Kinase, Nitrogen assimilation, fungi, Cell Biology, Biology, Photosynthesis, Biochemistry, Glutamine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Enzyme, chemistry, 030220 oncology & carcinogenesis, Polytomella parva, Molecular Biology
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11
المؤلفون: Francesca Faravelli, Vicente Rubio, Clara Marco-Marín, Emanuele Panza, Marco Seri, Diego Martinelli, Francesca Forzano, Carlo Dionisi-Vici, Juan Manuel Escamilla-Honrubia, Pamela Magini
المساهمون: Ministerio de Economía y Competitividad (España), Rubio, Vicente[0000-0001-8124-1196], Rubio, Vicente, Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza
المصدر: Annals of Clinical and Translational Neurology
Digital.CSIC. Repositorio Institucional del CSIC
instname
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1533-1540 (2019)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, ALDH18A1, P5CS, HSP, Hereditary spastic paraplegia, Neurosciences. Biological psychiatry. Neuropsychiatry, medicine.disease_cause, Bioinformatics, Brief Communication, Bone and Bones, Cataract, 03 medical and health sciences, 0302 clinical medicine, Spastic, medicine, Sf9 Cells, Cognitive status, Animals, Humans, RC346-429, Growth Disorders, Mutation, business.industry, Spastic Paraplegia, Hereditary, General Neuroscience, Aldehyde Dehydrogenase, medicine.disease, Cell system, Pedigree, 030104 developmental biology, Neurology. Diseases of the nervous system, Neurology (clinical), Paraplegia, business, Brief Communications, 030217 neurology & neurosurgery, RC321-571
وصف الملف: STAMPA
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12
المؤلفون: Karl Forchhammer, Javier Espinosa, Vicente Rubio, Vikram Alva, Clara Marco-Marín, Lorena Tremiño, Marcus D. Hartmann, Khaled A. Selim, Asunción Contreras
المساهمون: Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Transducción de Señales en Bacterias, Ministerio de Economía y Competitividad (España), Rubio, Vicente
المصدر: RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Cell signaling, PII superfamily, Protein Conformation, Mutant, Protein Data Bank (RCSB PDB), Calorimetry, Signal transduction, Crystallography, X-Ray, Cyanobacteria, Biochemistry, PII-like protein CutA, 03 medical and health sciences, 0302 clinical medicine, Bacterial Proteins, Metals, Heavy, Synechococcus elongatus PCC 7942, Protein CutA, Amino Acid Sequence, Nostoc, Molecular Biology, Nostoc sp. PCC 7120, Synechococcus, Sequence Homology, Amino Acid, Chemistry, Cell Biology, computer.file_format, Protein Data Bank, Adaptation, Physiological, Small molecule, Genética, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Protein Multimerization, computer, Heavy metal tolerance, Copper, Function (biology)
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13
المؤلفون: Clara, Marco-Marín, Juan M, Escamilla-Honrubia, José L, Llácer, Marco, Seri, Emanuele, Panza, Vicente, Rubio
المصدر: Journal of inherited metabolic diseaseREFERENCES. 43(4)
مصطلحات موضوعية: Phenotype, Spastic Paraplegia, Hereditary, Mutation, Humans, Urea, Aldehyde Dehydrogenase, Bone and Bones, Cataract, Growth Disorders, Pedigree
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14
المؤلفون: Erwin Knecht, Antonio Collado, Vincenzo Lupo, Cristina Domínguez-González, Ana Sánchez-Monteagudo, Paula Sancho, Carmen Espinós, Clara Marco-Marín, Ana Camacho
المساهمون: Instituto de Salud Carlos III, Ministerio de Educación, Cultura y Deporte (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Marco-Marín, Clara, Marco-Marín, Clara [0000-0002-8813-3515]
المصدر: NEUROGENETICS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Neurogenetics
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Digital.CSIC. Repositorio Institucional del CSIC
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Gene panel, AIFM1, In silico, Biology, medicine.disease_cause, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genes, X-Linked, Genetics, medicine, Humans, Gene, health care economics and organizations, Genetics (clinical), Mutation, Infant, Proteins, Phenotype, Human genetics, Pedigree, Mitochondrial disorder, Apoptosis inducing factor, 030104 developmental biology, Cancer research, Apoptosis-inducing factor, Female, Inherited peripheral neuropathies, 030217 neurology & neurosurgery
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15
المؤلفون: Giuseppe De Michele, Vicente Rubio, Domenico Bordo, Andrea H. Németh, Sally J. Davies, Jane A. Hurst, Roberto Cusano, Nadine Gougeard, Emanuele Panza, Juan Manuel Escamilla-Honrubia, Leonardo Salviati, Vincenzo Brescia Morra, Clara Marco-Marín, Marco Seri, Sarah F. Smithson, Rocco Liguori, Tommaso Pippucci, Maria Alice Donati, Roberto Ravazzolo
المساهمون: Panza, Emanuele, Escamilla-Honrubia, Juan M, Marco-Marín, Clara, Gougeard, Nadine, De Michele, Giuseppe, Brescia Morra, Vincenzo, Liguori, Rocco, Salviati, Leonardo, Donati, Maria Alice, Cusano, Roberto, Pippucci, Tommaso, Ravazzolo, Roberto, Németh, Andrea H, Smithson, Sarah, Davies, Sally, Hurst, Jane A, Bordo, Domenico, Rubio, Vicente, Seri, Marco, Ministerio de Economía y Competitividad (España), Generalitat Valenciana, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Escamilla-Honrubia, Juan Manuel, Escamilla Honrubia, Juan M, Marco Marín, Clara, DE MICHELE, Giuseppe, BRESCIA MORRA, Vincenzo, Rubio, Vicente [0000-0001-8124-1196], Escamilla-Honrubia, Juan Manuel [0000-0003-0154-6569]
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: 0301 basic medicine, Male, Ornithine, Candidate gene, Mutagenesis (molecular biology technique), Biology, Gene mutation, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Congenital Bilateral Cataracts, medicine, Humans, Spastic Paraplegia, Gene, Loss function, Genetics, Mutation, Spastic Paraplegia, Hereditary, Medicine (all), Aldehyde Dehydrogenase, Phenotype, 030104 developmental biology, Hereditary, Female, Neurology (clinical), 030217 neurology & neurosurgery, Human
وصف الملف: ELETTRONICO
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16
المصدر: Journal of Inherited Metabolic Disease. 30:217-226
مصطلحات موضوعية: Male, Molecular Conformation, Ornithine transcarbamylase, Biology, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, Ornithine Carbamoyltransferase, Predictive Value of Tests, Genetics, medicine, Humans, Missense mutation, Child, Gene, Genetics (clinical), Ornithine transcarbamylase deficiency, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Mutation, Infant, Newborn, Infant, Ornithine, medicine.disease, Ornithine Carbamoyltransferase Deficiency Disease, chemistry, Child, Preschool, Urea cycle, Female
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17
المؤلفون: Vicente Rubio, Fernando Gil-Ortiz, Clara Marco-Marín
المصدر: Journal of Molecular Biology. 352:438-454
مصطلحات موضوعية: Models, Molecular, Protein Folding, Adenylyl Imidodiphosphate, Molecular Sequence Data, Biology, Crystallography, X-Ray, Glutamyl Aminopeptidase, Catalysis, Protein Structure, Secondary, Protein structure, Structural Biology, Magnesium, Amino Acid Sequence, Molecular Biology, UMP kinase, Binding Sites, Nucleoside-phosphate kinase, Carbamate kinase, Carbamoyl phosphate synthetase, biology.organism_classification, Pyrococcus furiosus, Amino acid kinase, Protein Subunits, Amino Acid Substitution, Biochemistry, biology.protein, Pyrimidine Nucleotides, Nucleoside-Phosphate Kinase, Uridine Monophosphate, Dimerization, Acetylglutamate kinase
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18
المصدر: Journal of Molecular Biology. 349:127-141
مصطلحات موضوعية: Carbamoyl-Phosphate Synthase I Deficiency Disease, Allosteric regulation, Carbamoyl-Phosphate Synthase (Ammonia), Biology, Carbamoyl phosphate synthetase I, chemistry.chemical_compound, Adenosine Triphosphate, Allosteric Regulation, Structural Biology, Carbamoyl phosphate, Escherichia coli, Humans, Phosphorylation, Molecular Biology, Carbamoyl phosphate synthetase deficiency, chemistry.chemical_classification, Carbamoyl phosphate synthetase, Molecular biology, Bicarbonates, Enzyme, Amino Acid Substitution, Biochemistry, chemistry, Mitochondrial matrix, Mutation, biology.protein, Carbamates
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19
المصدر: Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1747:271-275
مصطلحات موضوعية: Biophysics, Crystallography, X-Ray, medicine.disease_cause, Biochemistry, Catalysis, Analytical Chemistry, Diffusion, chemistry.chemical_compound, Genome, Archaeal, Escherichia coli, medicine, Formate, Molecular Biology, UMP kinase, chemistry.chemical_classification, Nucleoside-phosphate kinase, biology, Temperature, biology.organism_classification, Recombinant Proteins, Eukaryotic Cells, Pyrimidines, Enzyme, chemistry, Pyrimidine metabolism, Solvents, Pyrococcus furiosus, Phosphorylation, Crystallization, Nucleoside-Phosphate Kinase
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20
المصدر: Journal of Molecular Biology. 334:459-476
مصطلحات موضوعية: Models, Molecular, Protein Conformation, Molecular Sequence Data, Arginine, Crystallography, X-Ray, Catalysis, Substrate Specificity, Protein structure, Structural Biology, Escherichia coli, Aspartate kinase, Amino Acid Sequence, Aspartate Kinase, Binding site, Site-directed mutagenesis, Molecular Biology, Peptide sequence, chemistry.chemical_classification, Binding Sites, Molecular Structure, Sequence Homology, Amino Acid, biology, Phosphotransferases (Carboxyl Group Acceptor), Amino acid, Amino acid kinase, chemistry, Biochemistry, Mutation, Mutagenesis, Site-Directed, biology.protein, Protein Binding, Acetylglutamate kinase