المؤلفون: Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim

المصدر: Larsen, I S B, Povolo, L, Zhou, L, Tian, W, Mygind, K J, Hintze, J, Jiang, C, Hartill, V, Prescott, K, Johnson, C A, Mullegama, S V, McConkie-Rosell, A, McDonald, M, Hansen, L, Vakhrushev, S Y, Schjoldager, K T, Clausen, H, Worzfeld, T, Joshi, H J & Halim, A 2023, ' The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase ', Proceedings of the National Academy of Sciences of the United States of America, vol. 120, no. 21, pp. e2302584120 . https://doi.org/10.1073/pnas.2302584120Test

مصطلحات موضوعية: Multidisciplinary, glycosylation, glycoproteomics, plexin, O-mannosylation, congenital disorders of glycosylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002d22943d971c680b2f7b4e379c7c4fTest
https://doi.org/10.1073/pnas.2302584120Test

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. SPRINGER

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad8887e9519c62164677392015f41c6Test
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848Test

المؤلفون: Tiffany Pascreau, François Saller, Elsa P. Bianchini, Dominique Lasne, Arnaud Bruneel, Christelle Reperant, François Foulquier, Cécile V. Denis, Pascale De Lonlay, Delphine Borgel

المصدر: Thrombosis and Haemostasis. 122:1469-1478

مصطلحات موضوعية: Congenital Disorders of Glycosylation, Glycosylation, Phosphotransferases (Phosphomutases), Thrombin, Humans, Endothelium, Hematology, Protein C

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b5f8cbc048560373cd2214194e0980Test
https://doi.org/10.1055/s-0042-1744378Test

المؤلفون: Suzanne W, Boyer, Christin, Johnsen, Eva, Morava

المصدر: Trends Mol Med

مصطلحات موضوعية: Congenital Disorders of Glycosylation, Glycosylation, Humans, Molecular Medicine, Lipid Metabolism, Molecular Biology, Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f80ea2d8c97918b993b46d8b767def33Test
https://doi.org/10.1016/j.molmed.2022.04.003Test

المؤلفون: An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter

المصدر: Journal of inherited metabolic disease, vol 46, iss 2
J Inherit Metab Dis

مصطلحات موضوعية: bile acids, Pediatric, Genetics & Heredity, Vacuolar Proton-Translocating ATPases, Glycosylation, Hydrolases, Liver Disease, Clinical Sciences, Infant, Oxysterols, Niemann-pick type C, Type C, Article, Bile Acids and Salts, Congenital Disorders of Glycosylation, N-palmitoyl-O-phosphocholineserine, Clinical Research, Niemann-Pick Disease, Genetics, Humans, Child, Digestive Diseases, Genetics (clinical), ATP6AP1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1fe60093ec40cb5561491e1ea6d777Test
https://escholarship.org/uc/item/39n7s551Test

المؤلفون: Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, Graeme J. Preston, Arianna Maiorana, Alessandra Terracciano, Maria Lisa Dentici, Elisa Pisaneschi, Antonio Novelli, Wasantha Ranatunga, Anna N. Ligezka, Bart Ghesquière, David R. Deyle, Tamas Kozicz, Filippo Pinto e Vairo, Peter Witters, Eva Morava

المصدر: Genetics in Medicine. 24:894-904

مصطلحات موضوعية: Congenital Disorders of Glycosylation, Glycosylation, Intellectual Disability, Microcephaly, Mutation, Missense, Humans, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8121cbb56239e4e50424847ce01f42Test
https://doi.org/10.1016/j.gim.2021.12.012Test

المؤلفون: Nezir Özgün, Yavuz Sahin

المساهمون: İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nezir Özgün / 0000-0002-0866-2004, Özgün, Nezir, Nezir Özgün / GCT-0294-2022, Nezir Özgün / 57190179626

المصدر: Brain and Development. 44:239-243

مصطلحات موضوعية: Glycosylation, Developmental Disabilities, Hypotonia, Congenital Defect of Glycosylation, Blindness, Frameshift mutation, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Developmental Neuroscience, medicine, Humans, Gene, Exome sequencing, Fucosylation, Genetics, Developmental Delay, Type2 Fucosylation Defect, business.industry, General Medicine, medicine.disease, Phosphotransferases (Alcohol Group Acceptor), chemistry, Pediatrics, Perinatology and Child Health, Fucokinase, Muscle Hypotonia, Neurology (clinical), medicine.symptom, business, Congenital disorder of glycosylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0a5680439ee141909ba914253090a0aTest
https://doi.org/10.1016/j.braindev.2021.11.001Test

المؤلفون: Pereira, Beatriz Luís

المساهمون: Videira, Paula, Barbosa, Mariana

مصطلحات موضوعية: Glycosylation, Congenital Disorders of Glycosylation, Prodrugs, Engenharia e Tecnologia::Outras Engenharias e Tecnologias [Domínio/Área Científica], Sialic acid, Biomarkers, GNE myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1437::b1c6ca41e8695206b3dbd67185eeae9fTest
https://hdl.handle.net/10362/154801Test

المؤلفون: Paulina Sosicka, Bobby G. Ng, Hudson H. Freeze

المصدر: ACS Chem Biol

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, biology, business.industry, General Medicine, Bioinformatics, biology.organism_classification, Biochemistry, Article, chemistry.chemical_compound, Congenital Disorders of Glycosylation, chemistry, Animals, Molecular Medicine, Medicine, Dietary supplementation, business, Zebrafish

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5590ed3eb9c133a39772f36983e905eaTest
https://doi.org/10.1021/acschembio.1c00601Test

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.2021.09.012Test
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 Genet

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f124a26c20753d3232c900ffc2a8a140Test
https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56Test