Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes

por 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.
Publicado 2023

Screening for abnormal glycosylation in a cohort of adult liver disease patients

por Jansen, Jos C., van Hoek, Bart, Metselaar, Herold J., van den Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, van Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.
Publicado 2020

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

por Linders, Peter T. A., Gerretsen, Eveline C. F., Ashikov, Angel, Vals, Mari-Anne, de Boer, Rinse, Revelo, Natalia H., Arts, Richard, Baerenfaenger, Melissa, Zijlstra, Fokje, Huijben, Karin, Raymond, Kimiyo, Muru, Kai, Fjodorova, Olga, Pajusalu, Sander, Õunap, Katrin, ter Beest, Martin, Lefeber, Dirk, van den Bogaart, Geert
Publicado 2021

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

por 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.
Publicado 2023

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

por Lefeber, Dirk J., de Brouwer, Arjan P. M., Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H. M., Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M. R., Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A.
Publicado 2011

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

por Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Publicado 2022

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

por Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.
Publicado 2016