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

المؤلفون: W. Foster, G Arruda Bezerra, T. Krojer, Manshu Tang, Huber Kvm., Kent Lai, L. Diaz-Saez, Sabrina Mackinnon, Wyatt W. Yue, F. von Delft, Paul Brennan

المصدر: ACS Chemical Biology

مصطلحات موضوعية: Galactosemias, 0301 basic medicine, Protein Conformation, Allosteric regulation, Crystallography, X-Ray, 01 natural sciences, Biochemistry, Galactokinase, 03 medical and health sciences, chemistry.chemical_compound, medicine, Humans, Enzyme Inhibitors, Binding site, biology, 010405 organic chemistry, Chemistry, Galactosemia, Rational design, Mevalonate kinase, Active site, Articles, General Medicine, medicine.disease, 0104 chemical sciences, 030104 developmental biology, Galactose, biology.protein, Molecular Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6526484f4e04cc09ef4d380ce28a82Test
https://doi.org/10.1021/acschembio.0c00498Test

المؤلفون: Wyatt W. Yue, Julie Soblet, Serge Goldman, Guillaume Smits, Alec Aeby, Lionel Paternoster, Sandra Coppens, Xavier De Tiège, Catheline Vilain, Nicolas Deconinck

المصدر: American journal of medical genetics. Part A, 182 (11

مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Cerebellum, Cerebellar ataxia, business.industry, Sciences bio-médicales et agricoles, 030105 genetics & heredity, Phenotype, Temporal lobe, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Genetics, Brain positron emission tomography, Medicine, Ataxic Gait, medicine.symptom, business, Exome, Genetics (clinical)

وصف الملف: 1 full-text file(s): application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba80b5033a6456fe2ad34a7d28ad329Test
https://doi.org/10.1002/ajmg.a.61805Test

المؤلفون: Elzbieta Rembeza, Peter L. Oliver, Mark J. Crabtree, Mattéa J. Finelli, Daria M. Svistunova, Wyatt W. Yue, Jillian N. Simon

المصدر: Free radical biology & medicine

مصطلحات موضوعية: 0301 basic medicine, Mouse, Peroxiredoxin 2, Chaperone, Protein aggregation, medicine.disease_cause, Biochemistry, Neuroprotection, Protein Aggregation, Pathological, Article, Mitochondrial Proteins, 03 medical and health sciences, Mice, 0302 clinical medicine, Physiology (medical), Cerebellum, medicine, Animals, Humans, Neurodegeneration, Cells, Cultured, Mice, Knockout, biology, Chemistry, Peroxiredoxin, Neurodegenerative Diseases, Hydrogen Peroxide, Peroxiredoxins, medicine.disease, 3. Good health, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, Oxidative Stress, 030104 developmental biology, Chaperone (protein), Knockout mouse, biology.protein, Antioxidant, Oxidation-Reduction, Protein Processing, Post-Translational, 030217 neurology & neurosurgery, Oxidative stress

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f9fd709af719ab0340cacfcc4c2a34Test
http://europepmc.org/articles/PMC6339520Test

المؤلفون: Alexander Holenstein, W. Foster, Arindam Talukdar, D. Sean Froese, Bing Xie, Wyatt W. Yue, Gustavo Arruda Bezerra, Céline Bürer, Debomita Bhattacharya, Lei Shi, Seraina Lutz, Ayan Mukherjee, Kevin G. Hicks, Jared Rutter, Peter Brown, Minkui Luo, Dipika Sarkar

المساهمون: University of Zurich, Froese, D Sean, Yue, Wyatt W

المصدر: Biochimie

مصطلحات موضوعية: 0301 basic medicine, S-Adenosylmethionine, 1303 Biochemistry, Methylenetetrahydrofolate reductase deficiency, 5,10-Methylenetetrahydrofolate reductase, Drug-development, Allosteric regulation, 610 Medicine & health, Reductase, Biochemistry, Article, 03 medical and health sciences, chemistry.chemical_compound, Sinefungin, Allosteric Regulation, Protein Domains, Enzymatic inhibition, medicine, Humans, Enzyme Inhibitors, Methylenetetrahydrofolate Reductase (NADPH2), Methionine, 030102 biochemistry & molecular biology, biology, Small molecules, General Medicine, medicine.disease, Small molecule, digestive system diseases, One-carbon metabolism, 030104 developmental biology, chemistry, 10036 Medical Clinic, Docking (molecular), Methylenetetrahydrofolate reductase, biology.protein

وصف الملف: 1_s2.0_S0300908421000092_main.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef61fcca8498f1f66e36e94dcc833f49Test

المؤلفون: Gopalakrishnan Bulusu, Robert J. Desnick, David F. Bishop, W. Foster, Siladitya Padhi, Arijit Roy, Wyatt W. Yue, Elzbieta Rembeza, Harry A. Dailey, Jason R. Marcero, Gustavo Arruda Bezerra, Henry J. Bailey

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Protoporphyria, Erythropoietic, Protein Conformation, Science, Protein domain, General Physics and Astronomy, Heme, Plasma protein binding, Molecular Dynamics Simulation, Crystallography, X-Ray, Isozyme, Catalysis, Gene Expression Regulation, Enzymologic, Article, General Biochemistry, Genetics and Molecular Biology, Substrate Specificity, Frameshift mutation, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Protein structure, Protein Domains, Transferases, Catalytic Domain, Humans, lcsh:Science, X-ray crystallography, Multidisciplinary, biology, Chemistry, Active site, Genetic Diseases, X-Linked, General Chemistry, ALAS2, Kinetics, 030104 developmental biology, Enzyme mechanisms, biology.protein, Biophysics, lcsh:Q, Acyl Coenzyme A, 030217 neurology & neurosurgery, 5-Aminolevulinate Synthetase, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285537360df796d460f3e2ba3ac1a931Test
https://doi.org/10.1038/s41467-020-16586-xTest

المؤلفون: Michiko E. Taga, Sabrina Mackinnon, D. Sean Froese, Olga M. Sokolovskaya, Henry J. Bailey, Wyatt W. Yue, Tanja Plessl, Matthias R. Baumgartner

المساهمون: University of Zurich, Taga, Michiko E

مصطلحات موضوعية: 0301 basic medicine, Biochemistry & Molecular Biology, 1303 Biochemistry, Vitamin B-12, 1.1 Normal biological development and functioning, Coenzymes, 610 Medicine & health, Context (language use), Cobamide, Biochemistry, Cobalamin, Cofactor, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Mutase, Underpinning research, polycyclic compounds, Humans, Vitamin B12, Vitamin B(12), 030304 developmental biology, Nutrition, chemistry.chemical_classification, 0303 health sciences, Methylmalonic aciduria, 030102 biochemistry & molecular biology, biology, Chemistry, Methylmalonyl-CoA mutase, nutritional and metabolic diseases, Methylmalonyl-CoA Mutase, General Medicine, 3. Good health, Vitamin B 12, Kinetics, 030104 developmental biology, Enzyme, 10036 Medical Clinic, biology.protein, Biochemistry and Cell Biology, 030217 neurology & neurosurgery, Function (biology), MMUT

وصف الملف: application/pdf; nihms_1618799.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f2d8b2c6a727b4a2f45830438cf4a5Test

المؤلفون: Fatma Taha, Daniel Weghuber, Johannes A. Mayr, Johannes Spenger, Elaina M. Maldonado, Florence van den Broek, Wyatt W. Yue, Saskia B. Wortmann, Simon Heales, Zdenek Jaros, Brigitte Meunier, Lamia Mestek-Boukhibar, Shamima Rahman, James Davison, Emma Clement

المساهمون: Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Biogenèse et fonctionnement des complexes OXPHOS mitochondriaux (BIOMIT), Département Biologie Cellulaire (BioCell), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
Am. J. Hum. Genet. 106, 256-263 (2020)
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Microcytic anemia, [SDV]Life Sciences [q-bio], rapid genome sequencing, Sequence Homology, 0302 clinical medicine, Cerebellum, cyclic FMN, Phosphorylation, innate immunity, Genetics (clinical), Exome sequencing, 2. Zero hunger, Genetics, Homozygote, Galactosemia, Pedigree, 3. Good health, developmental delay, Phosphotransferases (Alcohol Group Acceptor), Phenotype, Child, Preschool, Lactic acidosis, cataracts, Female, Phosphorus-Oxygen Lyases, TKFC, Biology, Nervous System Malformations, Cyclase, Cataract, 03 medical and health sciences, Report, Exome Sequencing, medicine, inborn error of metabolism, Humans, Phosphofructokinase 2, Amino Acid Sequence, Kinase activity, Alleles, Cardiomyopathy, Cataracts, Cyclic Fmn, Developmental Delay, Fructose Metabolism, Inborn Error Of Metabolism, Innate Immunity, Rapid Genome Sequencing, Tkfc, Triokinase, Infant, medicine.disease, triokinase, fructose metabolism, 030104 developmental biology, Inborn error of metabolism, Mutation, cardiomyopathy, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a704de9174a9612ac3e1dd7437d847fTest
https://hal.science/hal-02464288/documentTest

المؤلفون: Elzbieta Rembeza, D. Sean Froese, Terttu Suormala, Anselm Erich Oberholzer, Oktawia Borkowska, Wyatt W. Yue, Jolanta Kopec, Gustavo Arruda Bezerra, Rod Chalk, Seraina Lutz, Matthias R. Baumgartner

المساهمون: University of Zurich, Froese, D Sean

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Protein Folding, S-Adenosylmethionine, General Physics and Astronomy, Reductase, Crystallography, X-Ray, Mass Spectrometry, chemistry.chemical_compound, 0302 clinical medicine, Protein structure, X-Ray Diffraction, Catalytic Domain, Phosphorylation, lcsh:Science, Multidisciplinary, biology, Chemistry, 3100 General Physics and Astronomy, Recombinant Proteins, Biochemistry, Science, Protein domain, Allosteric regulation, 610 Medicine & health, 1600 General Chemistry, Molecular Dynamics Simulation, General Biochemistry, Genetics and Molecular Biology, Article, Evolution, Molecular, 03 medical and health sciences, Biosynthesis, Protein Domains, 1300 General Biochemistry, Genetics and Molecular Biology, Scattering, Small Angle, Humans, Amino Acid Sequence, Protein Structure, Quaternary, Methylenetetrahydrofolate Reductase (NADPH2), Methionine, General Chemistry, digestive system diseases, Kinetics, 030104 developmental biology, 10036 Medical Clinic, Methylenetetrahydrofolate reductase, biology.protein, lcsh:Q, 030217 neurology & neurosurgery, NADP

وصف الملف: 41467_2018_Article_4735.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c668c6b07c00337b17f534542d0bceTest
http://link.springer.com/article/10.1038/s41467-018-04735-2Test

المؤلفون: Marie-Laëtitia Thézénas, N.A. Burgess-Brown, Roman Fischer, Patrick J Venables, Leela Shrestha, Anna B Montgomery, Wyatt W. Yue, Jolanta Kopec

المصدر: Annals of the Rheumatic Diseases

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Hydrolases, Immunology, Molecular Sequence Data, Arthritis, Autoimmunity, Rheumatoid Arthritis, Fibrinogen, medicine.disease_cause, Crystallography, X-Ray, General Biochemistry, Genetics and Molecular Biology, Catalysis, Substrate Specificity, Arthritis, Rheumatoid, 03 medical and health sciences, Structure-Activity Relationship, Rheumatology, Immunology and Allergy, Medicine, Humans, Amino Acid Sequence, Peptide sequence, Porphyromonas gingivalis, Basic and Translational Research, biology, business.industry, Citrullination, medicine.disease, biology.organism_classification, PPAD, Gingipain, 030104 developmental biology, Biochemistry, Ant-CCP, Mutagenesis, Site-Directed, Protein-Arginine Deiminases, Citrulline, business, Crystallization, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91009714b4b08847a71601c014b2f8fcTest
https://ora.ox.ac.uk/objects/uuid:6944c2a9-e1c6-4a1f-82b8-ea85eb3b80eeTest