Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities

Autor: Hans J.C.T. Wessels, Purva Kulkarni, Maurice van Dael, Anouk Suppers, Esther Willems, Fokje Zijlstra, Else Kragt, Jolein Gloerich, Pierre-Olivier Schmit, Stuart Pengelley, Kristina Marx, Alain J. van Gool, Dirk J. Lefeber

Publikováno v: Journal of Advanced Research, Vol 61, Iss , Pp 179-192 (2024)

Introduction: The human plasma glycoproteome holds enormous potential to identify personalized biomarkers for diagnostics. Glycoproteomics has matured into a technology for plasma N-glycoproteome analysis but further evolution towards clinical applic

Externí odkaz: https://doaj.org/article/047479ae6a8b4ca1b4863cf855f7ee50

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes

Autor: 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

Publikováno v: International Journal of Molecular Sciences, 24
International Journal of Molecular Sciences, 24, 3
Baerenfaenger, M, Post, M A, Langerhorst, P, Huijben, K, Zijlstra, F, Jacobs, J F M, Verbeek, M M, Wessels, H J C T & Lefeber, D J 2023, ' Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes ', International Journal of Molecular Sciences, vol. 24, no. 3, 1937, pp. 1-17 . https://doi.org/10.3390/ijms24031937
International Journal of Molecular Sciences
Volume 24
Issue 3
Pages: 1937
International Journal of Molecular Sciences, 24(3):1937, 1-17. Multidisciplinary Digital Publishing Institute (MDPI)

The glycosylation of proteins plays an important role in neurological development and disease. Glycoproteomic studies on cerebrospinal fluid (CSF) are a valuable tool to gain insight into brain glycosylation and its changes in disease. However, it is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::631b721d32538e6e66c6296c94896e43
http://hdl.handle.net/2066/290590

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish

Autor: Jörgen Bierau, Martijn Lindhout, M. Estela Rubio-Gozalbo, Fokje Zijlstra, Ana I. Coelho, Minela Haskovic, Raisa Veizaj, Dirk Lefeber, Rein Vos, Jo Vanoevelen

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43, 994-1001
Journal of Inherited Metabolic Disease, 43(5), 994-1001. Wiley
Journal of Inherited Metabolic Disease, 43, 5, pp. 994-1001

Nucleotide sugars (NS) are fundamental molecules in life and play a key role in glycosylation reactions and signal conduction. Several pathways are involved in the synthesis of NS. The Leloir pathway, the main pathway for galactose metabolism, is cru

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e333426a335f90efa435815f147e06
https://hdl.handle.net/2066/225900

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Autor: 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

The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, theSTX5mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8868b7432023872fd3fe8b1cdd32eaa
https://doi.org/10.1101/2020.03.30.20044438

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability

Autor: Melissa Baerenfaenger, Danielle E. Jenkins, Hans J. C. T. Wessels, Fokje Zijlstra, Rebecca Luu, Louise S. Bicknell, Karen M Knapp, Dirk Lefeber, Katherine Neas

Publikováno v: Journal of Human Genetics, 65, 9, pp. 743-750
Journal of Human Genetics, 65, 743-750
Journal of human genetics, 65(9), 743-750. Nature Publishing Group
Bärenfänger, J M, Knapp, K M, Luu, R, Zijlstra, F, Wessels, H J C T, Jenkins, D, Lefeber, D J, Neas, K & Bicknell, L S 2020, ' Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability ', Journal of human genetics, vol. 65, no. 9, pp. 743-750 . https://doi.org/10.1038/s10038-020-0764-4

Contains fulltext : 225877.pdf (Publisher’s version ) (Closed access) Variants in SLC35C1 underlie leucocyte adhesion deficiency (LADII) or congenital disorder of glycosylation type 2c (CDGIIc), an autosomal recessive disorder of fucosylation. This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74ed015b885c1e84d69b4b4957a95e4
https://hdl.handle.net/2066/225877