Clinical glycomics for the diagnosis of congenital disorders of glycosylation
Abu Bakar, Nurulamin, Lefeber, Dirk J., van Scherpenzeel, Monique
Published in Journal of inherited metabolic disease (01.05.2018)
Published in Journal of inherited metabolic disease (01.05.2018)
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Readily Accessible Bicyclononynes for Bioorthogonal Labeling and Three-Dimensional Imaging of Living Cells
Dommerholt, Jan, Schmidt, Samuel, Temming, Rinske, Hendriks, Linda J.A, Rutjes, Floris P.J.T, van Hest, Jan C.M, Lefeber, Dirk J, Friedl, Peter, van Delft, Floris L
Published in Angewandte Chemie (International ed.) (03.12.2010)
Published in Angewandte Chemie (International ed.) (03.12.2010)
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Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation
Van Scherpenzeel, Monique, Willems, Esther, Lefeber, Dirk J.
Published in Glycoconjugate journal (01.06.2016)
Published in Glycoconjugate journal (01.06.2016)
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Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.
Published in Science (American Association for the Advancement of Science) (26.04.2013)
Published in Science (American Association for the Advancement of Science) (26.04.2013)
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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
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
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
van Scherpenzeel, Monique, Steenbergen, Gerry, Morava, Eva, Wevers, Ron A, Lefeber, Dirk J
Published in Translational research : the journal of laboratory and clinical medicine (01.12.2015)
Published in Translational research : the journal of laboratory and clinical medicine (01.12.2015)
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How to find and diagnose a CDG due to defective N-glycosylation
Lefeber, Dirk J., Morava, Eva, Jaeken, Jaak
Published in Journal of inherited metabolic disease (01.08.2011)
Published in Journal of inherited metabolic disease (01.08.2011)
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Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation
Hipgrave Ederveen, Agnes L, de Haan, Noortje, Baerenfaenger, Melissa, Lefeber, Dirk J, Wuhrer, Manfred
Published in International journal of molecular sciences (15.10.2020)
Published in International journal of molecular sciences (15.10.2020)
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CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model
Tokuoka, Hideki, Imae, Rieko, Nakashima, Hitomi, Manya, Hiroshi, Masuda, Chiaki, Hoshino, Shunsuke, Kobayashi, Kazuhiro, Lefeber, Dirk J, Matsumoto, Riki, Okada, Takashi, Endo, Tamao, Kanagawa, Motoi, Toda, Tatsushi
Published in Nature communications (14.04.2022)
Published in Nature communications (14.04.2022)
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Fluorinated rhamnosides inhibit cellular fucosylation
Pijnenborg, Johan F A, Rossing, Emiel, Merx, Jona, Noga, Marek J, Titulaer, Willem H C, Eerden, Nienke, Veizaj, Raisa, White, Paul B, Lefeber, Dirk J, Boltje, Thomas J
Published in Nature communications (02.12.2021)
Published in Nature communications (02.12.2021)
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
TIMAL, Sharita, HOISCHEN, Alexander, GILISSEN, Christian, RODENBURG, Richard J, EIDHOF, Ilse, VAN DEN HEUVEL, Lambert, THIEL, Christian, WEVERS, Ron A, MORAVA, Eva, VELTMAN, Joris, LEFEBER, Dirk J, LEHLE, Ludwig, ADAMOWICZ, Maciej, HUIJBEN, Karin, SYKUT-CEGIELSKA, Jolanta, PAPROCKA, Justyna, JAMROZ, Ewa, VAN SPRONSEN, Francjan J, KÖRNER, Christian
Published in Human molecular genetics (01.10.2012)
Published in Human molecular genetics (01.10.2012)
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
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
Published in PLoS genetics (01.12.2011)
Published in PLoS genetics (01.12.2011)
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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
Langereis, Eveline J, Wagemans, Tom, Kulik, Wim, Lefeber, Dirk J, van Lenthe, Henk, Oussoren, Esmee, van der Ploeg, Ans T, Ruijter, George J, Wevers, Ron A, Wijburg, Frits A, van Vlies, Naomi
Published in PloS one (25.09.2015)
Published in PloS one (25.09.2015)
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Genetic defects in dolichol metabolism
Buczkowska, Anna, Swiezewska, Ewa, Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.01.2015)
Published in Journal of inherited metabolic disease (01.01.2015)
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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Cantagrel, Vincent, Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L., Lehle, Ludwig, Hombauer, Hans, Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R., Dobyns, William B., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A., Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.
Published in Cell (23.07.2010)
Published in Cell (23.07.2010)
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The GlycoPaSER Prototype as a Real-Time N-Glycopeptide Identification Tool Based on the PaSER Parallel Computing Platform
Armony, Gad, Brehmer, Sven, Srikumar, Tharan, Pfennig, Lennard, Zijlstra, Fokje, Trede, Dennis, Kruppa, Gary, Lefeber, Dirk J, van Gool, Alain J, Wessels, Hans J C T
Published in International journal of molecular sciences (26.04.2023)
Published in International journal of molecular sciences (26.04.2023)
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