Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes
Baerenfaenger, Melissa, Post, Merel A, Langerhorst, Pieter, Huijben, Karin, Zijlstra, Fokje, Jacobs, Joannes F M, Verbeek, Marcel M, Wessels, Hans J C T, Lefeber, Dirk J
Published in International journal of molecular sciences (18.01.2023)
Published in International journal of molecular sciences (18.01.2023)
Get full text
Journal Article
MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases
Post, Merel A., Wit, Isis, Zijlstra, Fokje S. M., Engelke, Udo F. H., Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito‐Lee, Joy, Lee, Beom Hee, Low, Karen J., Mallick, Andrew A., Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari‐Anne, Wortmann, Saskia B., Wessels, Hans J. C. T., Bärenfänger, Melissa, Karnebeek, Clara D. M., Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
Get full text
Journal Article
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis
Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G P, van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P, Post, Merel A, Huijben, Karin, Panneman, Daan M, Rodenburg, Richard J T, Voermans, Nicol C, Garanto, Alejandro, Koopman, Werner J H, Wessels, Hans J C T, Noga, Marek J, Lefeber, Dirk J
Published in International journal of molecular sciences (04.05.2023)
Published in International journal of molecular sciences (04.05.2023)
Get full text
Journal Article
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner
Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C W, Post, Merel A, van Oosten, Edwin M, O'Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P M, Collin, Rob W J, Roosing, Susanne, Garanto, Alejandro
Published in Cells (Basel, Switzerland) (17.11.2022)
Published in Cells (Basel, Switzerland) (17.11.2022)
Get full text
Journal Article
Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow
Baerenfaenger, Melissa, Post, Merel A., Zijlstra, Fokje, van Gool, Alain J., Lefeber, Dirk J., Wessels, Hans J. C. T.
Published in Analytical chemistry (Washington) (22.05.2024)
Published in Analytical chemistry (Washington) (22.05.2024)
Get full text
Journal Article
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma
Langerhorst, Pieter, Baerenfaenger, Melissa, Kulkarni, Purva, Nadal, Simon, Wijnands, Charissa, Post, Merel A., Noori, Somayya, vanDuijn, Martijn M., Joosten, Irma, Dejoie, Thomas, van Gool, Alain J., Gloerich, Jolein, Lefeber, Dirk J., Wessels, Hans J.C.T., Jacobs, Joannes F.M.
Published in Clinical chemistry and laboratory medicine (26.07.2024)
Published in Clinical chemistry and laboratory medicine (26.07.2024)
Get full text
Journal Article
MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases
Post, Merel A, de Wit, Isis, Zijlstra, Fokje S M, Engelke, Udo F H, van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito-Lee, Joy, Lee, Beom Hee, Low, Karen J, Mallick, Andrew A, Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari-Anne, Wortmann, Saskia B, Wessels, Hans J C T, Bärenfänger, Melissa, van Karnebeek, Clara D M, Lefeber, Dirk J
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
Get full text
Journal Article
The Predicted Splicing Variant c.11+5GA in IRPE65/I Leads to a Reduction in mRNA Expression in a Cell-Specific Manner
Vázquez-Domínguez, Irene, Duijkers, Lonneke, Fadaie, Zeinab, Alaerds, Eef C. W, Post, Merel A, van Oosten, Edwin M, O’Gorman, Luke, Kwint, Michael, Koolen, Louet, Hoogendoorn, Anita D. M, Kroes, Hester Y, Gilissen, Christian, Cremers, Frans P. M, Collin, Rob W. J, Roosing, Susanne, Garanto, Alejandro
Published in Cells (Basel, Switzerland) (01.11.2022)
Published in Cells (Basel, Switzerland) (01.11.2022)
Get full text
Journal Article
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases
Post, Merel A, de Wit, Isis, Zijlstra, Fokje S M, Engelke, Udo F H, van Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito-Lee, Joy, Lee, Beom Hee, Low, Karen J, Mallick, Andrew A, Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari-Anne, Wortmann, Saskia B, Wessels, Hans J C T, Bärenfänger, Melissa, van Karnebeek, Clara D M, Lefeber, Dirk J
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
Get full text
Journal Article
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D. M. van
Published in Frontiers in neurology (07.06.2021)
Published in Frontiers in neurology (07.06.2021)
Get full text
Journal Article