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المصدر: Virology. 562:128-141
مصطلحات موضوعية: Rhinovirus, Picornavirus, Protein Conformation, viruses, Biology, medicine.disease_cause, Antiviral Agents, Substrate Specificity, Viral Proteins, chemistry.chemical_compound, Eukaryotic translation, Virology, Cleave, medicine, Humans, Amino Acid Sequence, Adaptor Proteins, Signal Transducing, Enterovirus, Methionine, EIF4G, Poliovirus, Genetic Variation, biology.organism_classification, Cysteine Endopeptidases, chemistry, Biochemistry, Virion assembly, Eukaryotic Initiation Factor-4G, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383529bffe662fb2773cde3ad54d9453Test
https://doi.org/10.1016/j.virol.2021.07.008Test -
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المؤلفون: Wyatt W. Yue, Sabrina Mackinnon, Melanie Walter, Raina Yamamoto, William Foster, Sylvia Roloff, Anke Schumann, Sarah C. Grünert, Lisa Stübbe, Ali Alasmari, Ute Spiekerkoetter, Osama A. Obaid, Eissa Faqeih, Allan M. Lund, Christina Pontes, Corinne Gemperle-Britschgi, Jörn Oliver Sass, Natalie Weinhold
المصدر: Biochimie. 183:55-62
مصطلحات موضوعية: 0301 basic medicine, Coenzyme A, Mutation, Missense, Ketone Bodies, Crystallography, X-Ray, Bioinformatics, medicine.disease_cause, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Protein Domains, medicine, Humans, Missense mutation, Succinyl-CoA, OXCT1, Mutation, 030102 biochemistry & molecular biology, business.industry, Brain Diseases, Metabolic, Inborn, Metabolic acidosis, General Medicine, medicine.disease, Ketoacidosis, 030104 developmental biology, chemistry, Neurodevelopmental Disorders, Inborn error of metabolism, Coenzyme A-Transferases, Acidosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf49788580b3d54a2a07377626afd22fTest
https://doi.org/10.1016/j.biochi.2021.02.003Test -
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المؤلفون: Wyatt W. Yue, Hans van Bokhoven, Walinka van Tol, Moniek Riemersma, Jolanta Kopec, D. Sean Froese, Hiroshi Manya, Ewa Swiezewska, Dirk Lefeber, Thijn R. Brummelkamp, T. Krojer, Monique van Scherpenzeel, Lucas T. Jae, Angel Ashikov, Frank von Delft, Tamao Endo, Anna Buczkowska, Udo F. H. Engelke, Marco Tessari
المساهمون: Klinische Genetica, RS: CARIM - R2 - Cardiac function and failure
المصدر: Chemistry & Biology, 22, 12, pp. 1643-52
Chemistry & Biology, 22, 1643-52
Chemistry & Biology, 22(12), 1643-1652. Elsevier Inc.مصطلحات موضوعية: Glycan, Glycosylation, Clinical Biochemistry, Biology, Crystallography, X-Ray, Nucleotide sugar, Ribitol, Biochemistry, Gene Knockout Techniques, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ribose, Drug Discovery, Dystroglycan, Humans, Transferase, Choline-Phosphate Cytidylyltransferase, Disorders of movement Radboud Institute for Molecular Life Sciences [Radboudumc 3], Dystroglycans, Molecular Biology, Cells, Cultured, 030304 developmental biology, Pharmacology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], ATP synthase, General Medicine, Fibroblasts, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Nucleotidyltransferases, carbohydrates (lipids), chemistry, biology.protein, Molecular Medicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58f6dd8c1c982f85e43feff77e40e356Test
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المؤلفون: Malcolm A. Lewis, William G. Newman, Sanjeev S. Bhaskar, Evren Süer, Wyatt W. Yue, Blanca Gener, Neil A. Roberts, Adnan Gucuk, Helen M. Stuart, Christian Beetz, Tarkan Soygür, Adrian S. Woolf, Jill E. Urquhart, M. Beatriz Orive Olondriz, Ömer Gülpınar, Neil A. Hanley, Burcu Bulum, Fırat Erdoğan, Aslı Kavaz, Fatoş Yalçınkaya, Zeynep Birsin Özçakar, Edward A. McKenzie, Sarah B. Daly, Mesrur Selcuk Silay, Emma Hilton, Rita Eva Varga, Berk Burgu, Andrew Berry, Murat Mermerkaya, Jonathan E. Dickerson
المساهمون: BAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Gücük, Adnan
المصدر: The American Journal of Human Genetics. 92:259-264
مصطلحات موضوعية: Male, Urologic Diseases, Urinary system, DNA Mutational Analysis, Molecular Sequence Data, Urinary Bladder, 030232 urology & nephrology, Disease, LRIG2 Mutations, Biology, medicine.disease_cause, Bioinformatics, Urofacial Syndrome (UFS), 03 medical and health sciences, 0302 clinical medicine, Report, Genetics, medicine, Humans, Family, Genetics(clinical), Urinary Bladder, Neurogenic, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Kidney, Membrane Glycoproteins, Urinary bladder, Base Sequence, Urofacial syndrome, LRIG2, Facies, Infant, medicine.disease, Immunohistochemistry, Pedigree, 3. Good health, medicine.anatomical_structure, Child, Preschool, Female, Carcinogenesis, Neural development, Mutations
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd287023f0be2d4700ed38a469dece2Test
https://doi.org/10.1016/j.ajhg.2012.12.002Test -
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المؤلفون: João R. C. Muniz, Udo Oppermann, E. Krysztofinska, Emelie Ugochukwu, Roy A. Gravel, Grazyna Kochan, D. Sean Froese, Xuchu Wu, Wyatt W. Yue, Carina Gileadi
المصدر: Journal of Biological Chemistry. 285:38204-38213
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Protein domain, Mutation, Missense, GTPase, chemistry, Crystallography, X-Ray, Mitochondrial Membrane Transport Proteins, Guanosine Diphosphate, Biochemistry, Cofactor, Mitochondrial Proteins, Cytosol, Protein structure, Mutase, Humans, genetics, Methionine synthase, Child, Protein Structure, Quaternary, Molecular Biology, biology, Membrane transport protein, Methylmalonyl-CoA mutase, Membrane Transport Proteins, Methylmalonyl-CoA Mutase, Cell Biology, Mitochondria, Child, Preschool, Multiprotein Complexes, biology.protein, Guanosine Triphosphate, Cobamides, metabolism, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672386bb7e3f383f0e6751a6bcd1faddTest
https://doi.org/10.1074/jbc.m110.177717Test
