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1دورية أكاديمية
المؤلفون: Gustavo A. Bezerra, William R. Foster, Henry J. Bailey, Kevin G. Hicks, Sven W. Sauer, Bianca Dimitrov, Thomas J. McCorvie, Jürgen G. Okun, Jared Rutter, Stefan Kölker, Wyatt W. Yue
المصدر: IUCrJ, Vol 7, Iss 4, Pp 693-706 (2020)
مصطلحات موضوعية: human dhtkd1, 2-oxoadipate, 2-oxoacid dehydrogenase, thiamine diphosphate, lysine catabolism, cryo-em, enzyme mechanisms, multi-protein complexes, Crystallography, QD901-999
وصف الملف: electronic resource
العلاقة: http://scripts.iucr.org/cgi-bin/paper?S205225252000696XTest; https://doaj.org/toc/2052-2525Test
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2دورية أكاديمية
المؤلفون: Marlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, Andreas Hüllen, Lars Beedgen, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Verena Peters, Sabine Strahl, Jaime Vázquez-Jiménez, Gunter Kerst, Christian Thiel
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100673- (2020)
مصطلحات موضوعية: Congenital disorder(s) of glycosylation, PMM2, Phosphomannomutase 2, Splicing variant, Exon skipping, N-glycosylation, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920301191Test; https://doaj.org/toc/2214-4269Test
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المؤلفون: Yuheng Yuan, Bianca Dimitrov, Nikolas Boy, Florian Gleich, Matthias Zielonka, Stefan Kölker
المصدر: Journal of Inherited Metabolic Disease. 46:391-405
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::10a16a3241cbb8fabe86eab24716afe7Test
https://doi.org/10.1002/jimd.12618Test -
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المؤلفون: Imke M. E. Schuurmans, Bianca Dimitrov, Julian Schröter, Antonia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D. M. van Karnebeek, Stefan Kölker, Alejandro Garanto
المصدر: Journal of Inherited Metabolic Disease, 46, 3, pp. 371-390
Journal of Inherited Metabolic Disease, 46, 371-390مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::984f5f237f6960e9b1fcf40c937433c2Test
https://doi.org/10.1002/jimd.12608Test -
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المؤلفون: Nastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, Andreas Hüllen, Georg Friedrich Hoffmann, Hendrik Juenger, Herbert Müller, Imke Lorenz, Birgit Busse, Christoph Marschall, Gregor Schlüter, Christian Thiel
المصدر: Molecular genetics and metabolism. 136(4)
مصطلحات موضوعية: Male, Endocrinology, Congenital Disorders of Glycosylation, Endocrinology, Diabetes and Metabolism, Proteolysis, Genetics, Humans, Infant, Membrane Proteins, Molecular Biology, Biochemistry, Mannosyltransferases, Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264a4805157ca5fe58c9396cd25545ecTest
https://pubmed.ncbi.nlm.nih.gov/35839600Test -
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المؤلفون: Bianca Dimitrov, Monique Williams, Femke Molema, Anke Schumann, Jessica Schmiesing, Stefan Kölker, Matthias R. Baumgartner, Chris Mühlhausen
المساهمون: University of Zurich, Kölker, Stefan, Pediatrics
المصدر: Journal of Inherited Metabolic Disease, 44(1), 9-21. Springer Netherlands
مصطلحات موضوعية: 2716 Genetics (clinical), 610 Medicine & health, Glutaric aciduria type 1, Mitochondrion, Bioinformatics, Neonatal Screening, 1311 Genetics, Intensive care, Genetics, medicine, Animals, Humans, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Newborn screening, business.industry, Mechanism (biology), Organ dysfunction, Autophagy, Infant, Newborn, Brain, Brain Diseases, Metabolic, Inborn, medicine.disease, Methylmalonic aciduria, 10036 Medical Clinic, medicine.symptom, business, Energy Metabolism, Methylmalonic Acid
وصف الملف: ZORA195364.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7046ed8623825145714fddb54ff17b79Test
http://www.scopus.com/inward/record.url?scp=85085468356&partnerID=8YFLogxKTest -
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المؤلفون: Wyatt W. Yue, Thomas J. McCorvie, Bianca Dimitrov, Henry J. Bailey, Kevin G. Hicks, Stefan Kölker, Sven W. Sauer, Gustavo Arruda Bezerra, Juergen G. Okun, W. Foster, Jared Rutter
المصدر: IUCrJ, Vol 7, Iss 4, Pp 693-706 (2020)
IUCrJمصطلحات موضوعية: Cryo-electron microscopy, 2-oxoadipate, Lysine, Oxidative phosphorylation, Mitochondrion, Biochemistry, thiamine diphosphate, 03 medical and health sciences, enzyme mechanisms, 0302 clinical medicine, multi-protein complexes, thiamine diphosphate, DHTKD1, General Materials Science, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Crystallography, biology, 2-oxoacid dehydrogenase, Active site, Substrate (chemistry), General Chemistry, Condensed Matter Physics, Research Papers, 2-oxoacid dehydrogenase, 3. Good health, Enzyme, chemistry, QD901-999, human dhtkd1, biology.protein, Biophysics, cryo-em, lysine catabolism, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6477f2f702f20628cd60b07635802f1Test
https://doi.org/10.1107/s205225252000696xTest -
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المؤلفون: Stefan Koelker, Gustavo Arruda Bezerra, Wyatt W. Yue, Bianca Dimitrov, W. Foster, Juergen G. Okun, Henry J. Bailey, Kevin G. Hicks, Sven W. Sauer, Jared Rutter
مصطلحات موضوعية: chemistry.chemical_classification, 0303 health sciences, biology, Chemistry, 030302 biochemistry & molecular biology, Lysine, Dehydrogenase, Mitochondrion, Small molecule, Cofactor, 03 medical and health sciences, Enzyme, Biochemistry, biology.protein, DHTKD1, Oxidative decarboxylation, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8a16e9d63d7a950481acbae5e813bbTest
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المؤلفون: Gustavo A. Bezerra, William R. Foster, Henry J. Bailey, Kevin G. Hicks, Sven W. Sauer, Bianca Dimitrov, Thomas J. McCorvie, Jurgen G. Okum, Jared Rutter, Stefan Kӧlker, Wyatt W. Yue
مصطلحات موضوعية: Protein, Target Enabling Package, Disease, Structure, Structural Genomics, Drug Discovery, Orphan Disease, Drug Target, Chemical Biology, Probe, Structure Discovery, Metabolic Diseases, DHTKD1, Dehydrogenase E1 and transketolase domain-containing protein 1
العلاقة: info:eu-repo/grantAgreement/WT/Molecular Basis of Cell Function/106169/; https://www.thesgc.org/tepTest; https://zenodo.org/communities/sgctepsTest; https://zenodo.org/record/4469332Test; https://doi.org/10.5281/zenodo.4469332Test; oai:zenodo.org:4469332
الإتاحة: https://doi.org/10.5281/zenodo.4469332Test
https://doi.org/10.5281/zenodo.4428229Test
https://zenodo.org/record/4469332Test -
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المؤلفون: Lars Beedgen, Bianca Dimitrov, Gesche Düker, Matthias Zielonka, Michael J. Lentze, Catherine Barrey, Kai‐Christian Thiemann, Nathalie Seta, Rainer Ganschow, Stuart E.H. Moore, Verena Peters, Anna‐Marlen Hutter, Jonas Denecke, Irmgard Sinning, Georg F. Hoffmann, Christian Thiel, Sandrine Vuillaumier-Barrot, Thierry Dupré, Maximilian Breuer, Nastassja Himmelreich, Wolfgang Kölfen, Virginia Geiger, Andreas Hüllen, Andreas Ziegler
المصدر: Human mutation. 40(7)
مصطلحات موضوعية: Male, Glycosylation, Biology, medicine.disease_cause, Mannosyltransferases, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, Open Reading Frames, Congenital Disorders of Glycosylation, Polymorphism (computer science), Chlorocebus aethiops, Genetics, Macroglossia, medicine, Coding region, Animals, Humans, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Genetics (clinical), Cells, Cultured, 030304 developmental biology, 0303 health sciences, Mutation, 030305 genetics & heredity, Intron, Infant, medicine.disease, Molecular biology, Open reading frame, chemistry, Child, Preschool, COS Cells, Female, medicine.symptom, Congenital disorder of glycosylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6814b5a8e4837094414d54d2307a0f90Test
https://pubmed.ncbi.nlm.nih.gov/31067009Test