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1دورية أكاديمية
المؤلفون: Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 9, p 8247 (2023)
مصطلحات موضوعية: phosphoglucomutase 1, PGM1 deficiency, PGM1 congenital disorder of glycosylation, in vitro muscle model, muscle energy homeostasis, muscle metabolic plasticity, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Melissa Baerenfaenger, Merel A. Post, Pieter Langerhorst, Karin Huijben, Fokje Zijlstra, Joannes F. M. Jacobs, Marcel M. Verbeek, Hans J. C. T. Wessels, Dirk J. Lefeber
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 3, p 1937 (2023)
مصطلحات موضوعية: cerebrospinal fluid, glycoproteomics, biomarkers, neurodegenerative disease, brain-type glycosylation, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5دورية أكاديمية
المؤلفون: Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers
المصدر: PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
وصف الملف: electronic resource
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المؤلفون: Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGERمصطلحات موضوعية: Glycosylation, congenital disorders of glycosylation (CDG), Oligosaccharides, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], multi-omics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], N-Acetylglucosaminyltransferases, TETRASACCHARIDE, Mannosyltransferases, TRANSFERRIN, glycomics, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Congenital Disorders of Glycosylation, Polysaccharides, Genetics, Humans, CDG type 1 (CDG-I), smMIPs, diagnostics by mass spectrometry, Mannose, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Rita Barone, Filippo Vairo, Bobby G. Ng, Jaak Jaeken, Gert Matthijs, James Pitt, Thierry Dupré, Lyndon Gallacher, Liesbeth Keldermans, Helen Michelakakis, Marina Ventouratou, Susan M. White, Sze Chern Lim, Melissa Baerenfaenger, Mirian C. H. Janssen, Angel Ashikov, Karin Huijben, Sandrine Vuillaumier-Barrot, Diana Ballhausen, Daisy Rymen, Agustí Rodríguez-Palmero, Blai Morales-Romero, Antonia Ribes, Peter Witters, Heidi Peters, Erika Souche, Eva Morava, Agata Fiumara, Pascale de Lonlay, Matthew P. Wilson, Dirk Lefeber, Wasantha Ranatunga, Alejandro Garanto, Hudson H. Freeze, Christian Thiel
المساهمون: BioAnalytical Chemistry, AIMMS
المصدر: American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
The American Journal of Human Genetics
Wilson, M P, Garanto, A, Pinto e Vairo, F, Ng, B G, Ranatunga, W K, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupré, T, Michelakakis, H, Fiumara, A, Pitt, J, White, S M, Lim, S C, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodríguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, M C H, Jaeken, J, Freeze, H H, Matthijs, G, Morava, E & Lefeber, D J 2021, ' Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2130-2144 . https://doi.org/10.1016/j.ajhg.2021.09.012
American Journal of Human Genetics, 108(11), 2130-2144. Cell Press
American Journal of Human Genetics, 108, 11, pp. 2130-2144
American Journal of Human Genetics, 108, 2130-2144
Am J Hum Genetمصطلحات موضوعية: Male, Mutant, congenital disorders of glycosylation, chemistry.chemical_compound, 0302 clinical medicine, Catalytic Domain, Missense mutation, Musculoskeletal Diseases, Genetics (clinical), Genes, Dominant, chemistry.chemical_classification, Genetics, 0303 health sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Oligosaccharyltransferase complex, Child, Preschool, glycosylation, Female, Adult, Heterozygote, Glycosylation, Adolescent, Protein subunit, Biology, Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, oligosaccharyltransferase complex, medicine, Humans, dominant inheritance, Amino Acid Sequence, 030304 developmental biology, Sequence Homology, Amino Acid, Oligosaccharyltransferase, Membrane Proteins, medicine.disease, chemistry, Hexosyltransferases, Nervous System Diseases, Glycoprotein, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f124a26c20753d3232c900ffc2a8a140
https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56 -
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المؤلفون: Angel, Ashikov, Nurulamin, Abu Bakar, Xiao-Yan, Wen, Marco, Niemeijer, Glentino, Rodrigues Pinto Osorio, Koroboshka, Brand-Arzamendi, Linda, Hasadsri, Hana, Hansikova, Kimiyo, Raymond, Dorothée, Vicogne, Nina, Ondruskova, Marleen E H, Simon, Rolph, Pfundt, Sharita, Timal, Roel, Beumers, Christophe, Biot, Roel, Smeets, Marjan, Kersten, Karin, Huijben, Peter T A, Linders, Geert, van den Bogaart, Sacha A F T, van Hijum, Richard, Rodenburg, Lambertus P, van den Heuvel, Francjan, van Spronsen, Tomas, Honzik, Francois, Foulquier, Monique, van Scherpenzeel, Dirk J, Lefeber, Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, van Hasselt, Peter, van de Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Brocke Holmefjord, Katja, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Te Water Naude, Johann
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Department of Medicine & Physiology , University of Toronto, First Faculty of Medicine, Charles University [Prague] (CU), Université Lille Nord de France (COMUE), University Medical Center [Utrecht], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Unité de Catalyse et Chimie du Solide - UMR 8181 (UCCS), Centrale Lille Institut (CLIL)-Université d'Artois (UA)-Centrale Lille-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Lille, Paediatrics, Beatrix Children's Hospital/University Medical Center Groningen, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Institut National de la Recherche Agronomique (INRA)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Charles University [Prague], Unité de Catalyse et de Chimie du Solide - UMR 8181 (UCCS), Université d'Artois (UA)-Ecole Centrale de Lille-Ecole Nationale Supérieure de Chimie de Lille (ENSCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA), Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, NCA - Brain mechanisms in health and disease, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Université d'Artois (UA)-Centrale Lille-Institut de Chimie du CNRS (INC)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille-Centre National de la Recherche Scientifique (CNRS)
المصدر: CDG group 2018, ' Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation ', Human Molecular Genetics, vol. 27, no. 17, pp. 3029-3045 . https://doi.org/10.1093/hmg/ddy213
Human Molecular Genetics, 27(17), 3029-3045. Oxford University Press
Human Molecular Genetics, 27, 3029-3045
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩
Human Molecular Genetics, 27(17), 3029. Oxford University Press
Human Molecular Genetics, 27, 17, pp. 3029-3045
Human Molecular Genetics, 2018, 27 (17), pp.3029-3045. ⟨10.1093/hmg/ddy213⟩مصطلحات موضوعية: Male, 0301 basic medicine, N-GLYCAN, HOMEOSTASIS, Glycosylation, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], [SDV]Life Sciences [q-bio], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Golgi Apparatus, Compound heterozygosity, DISEASE, Cohort Studies, Congenital Disorders of Glycosylation, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Missense mutation, Genetics(clinical), Exome, Glycomics, Zebrafish, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, Genetics (clinical), Genetics & Heredity, chemistry.chemical_classification, SEVERE INTELLECTUAL DISABILITY, Symporters, biology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, General Medicine, DEFECTS, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], Pedigree, Cell biology, Transport protein, DEFICIENCY, Protein Transport, Phenotype, symbols, Female, ENAMEL, Life Sciences & Biomedicine, Adult, Biochemistry & Molecular Biology, DISORDERS, Organic Anion Transporters, Sodium-Dependent, PHENOTYPES, DIAGNOSIS, TRANSFERRIN, Young Adult, 03 medical and health sciences, symbols.namesake, All institutes and research themes of the Radboud University Medical Center, Calcification, Physiologic, Genetics, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, BIOSYNTHESIS, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Molecular Biology, Bone Diseases, Developmental, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Infant, Heterozygote advantage, Fibroblasts, Golgi apparatus, biology.organism_classification, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, chemistry, Mutation, Glycoprotein
وصف الملف: application/pdf; image/pdf; Print
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e709730c784b1fbb4d2aab2a8939fd5a
https://research.rug.nl/en/publications/f2f95986-9727-4cad-968f-2627eb4a6a0e -
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المؤلفون: Olga Fjodorova, Natalia H. Revelo, Eveline C F Gerretsen, Richard Arts, Kimiyo Raymond, Fokje Zijlstra, Martin ter Beest, Karin Huijben, Rinse de Boer, Angel Ashikov, Katrin Õunap, Mari-Anne Vals, Kai Muru, Geert van den Bogaart, Melissa Baerenfaenger, Peter T. A. Linders, Dirk Lefeber, Sander Pajusalu
المساهمون: Molecular Cell Biology, Molecular Immunology
المصدر: Nature Communications, 12
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12, 1
Nature Communications, 12(1):6227. Nature Publishing Groupمصطلحات موضوعية: Gene isoform, Glycosylation, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Science, Amino Acid Motifs, Glycobiology, Golgi Apparatus, General Physics and Astronomy, STX5, Article, General Biochemistry, Genetics and Molecular Biology, Congenital Abnormalities, Abnormal glycosylation, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Golgi, medicine, Humans, Protein Isoforms, Secretory pathway, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Methionine, Qa-SNARE Proteins, Chemistry, General Chemistry, Fibroblasts, Golgi apparatus, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, 3. Good health, Cell biology, Protein Transport, Mechanisms of disease, Protein Biosynthesis, Mutation, symbols, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Geert van den Bogaart, Karin Huijben, Katrin Õunap, Olga Fjodorova, Eveline C F Gerretsen, Natalia H. Revelo, Fokje Zijlstra, Richard Arts, Mari-Anne Vals, Kimiyo Raymond, Dirk Lefeber, Angel Ashikov, Sander Pajusalu, Peter T. A. Linders, Kai Muru, Martin ter Beest, Melissa Baerenfaenger
مصطلحات موضوعية: Gene isoform, Methionine, Glycosylation, Chemistry, Golgi apparatus, STX5, medicine.disease, Cell biology, Abnormal glycosylation, symbols.namesake, chemistry.chemical_compound, symbols, medicine, Missense mutation, Congenital disorder of glycosylation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8868b7432023872fd3fe8b1cdd32eaa
https://doi.org/10.1101/2020.03.30.20044438