Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Dirk J. Lefeber"'
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
Autor:
Bianca Panis, Lise E. F. Janssen, Dirk J. Lefeber, Nynke Simons, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 353-359 (2023)
Abstract Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of
Externí odkaz:
https://doaj.org/article/714da9cadf8042f39f9898fcf10784e7
Autor:
Esther Willems, Jolein Gloerich, Anouk Suppers, Michiel van der Flier, Lambert P. van den Heuvel, Nicole van de Kar, Ria H.L.A. Philipsen, Maurice van Dael, Myrsini Kaforou, Victoria J. Wright, Jethro A. Herberg, Federico Martinon Torres, Michael Levin, Ronald de Groot, Alain J. van Gool, Dirk J. Lefeber, Hans J.C.T. Wessels, Marien I. de Jonge, Amina Abdulla, Christoph Aebi, Koen van Aerde, Rachel Agbeko, Philipp Agyeman, Umberto D’alessandro, Ladan Ali, Wynand Alkema, Karen Allen, Fernando Álvez González, Suzanne Anderson, Imran Ansari, Tasnim Araf, Tanja Avramoska, Bryan Baas, Natalija Bahovec, Cristina Balo Farto, Anda Balode, A.M. Barendregt, Ruth Barral-Arca, María Barreiro Castro, Arta Bārzdiņa, David Bath, Sebastian Bauchinger, Lucas Baumard, Hinrich Baumgart, Frances Baxter, Ashley Bell, Kathryn Bell, Xabier Bello, Evangelos Bellos, Martin Benesch, Mirian Ben García, Joshua Bennet, Christoph Berger, J.M. van den Berg, Sara Bernhard-Stirnemann, Sagida Bibi, Christoph Bidlingmaier, Alexander Binder, Vera Binder, Kalifa Bojang, Dorine M. Borensztajn, Ulrich von Both, Karen Brengel-Pesce, Bryan van den Broek, Judith Buschbeck, Leo Calvo-Bado, Sandra Carnota, Enitan D. Carrol, Michael J. Carter, Miriam Cebey-López, Samba Ceesay, Astrid Ceolotto, Adora Chan, Elizabeth Cocklin, Kalvin Collings, Stephen Crulley, Aubrey Cunnington, María José Curras-Tuala, Katharina Danhauser, Saffiatou Darboe, Sarah Darnell, Tisham De, Dārta Deksne, Kirsty Devine, Juan Emmanuel Dewez, Julia Dudley, Carlos Durán Suárez, Ernst Eber, Irini Eleftheriou, Marieke Emonts, Daniel Fabian, Tobias Feuchtinger, Katy Fidler, Colin Fink, A.M. van Furth, Rachel Galassini, Siegfried Gallistl, Luisa García Vicente, Dace Gardovska, J. Geissler, G.P.J.M. Gerrits, Eric Giannoni, Ilona van der Giessen, Alberto Gómez-Carballa, Jose Gómez Rial, Gunther Gores, Dagne Grāvele, Matthias Griese, Ilze Grope, Meeru Gurung, L. de Haan, Nikolaus Haas, Dominic Habgood-Coote, Nienke N. Hagedoorn, Harald Haidl, Shea Hamilton, Almuthe Hauer, J. Heidema, Ulrich Heininger, Stefanie Henriet, Jethro Herberg, Clive Hoggart, Susanne Hösele, Sara Hourmat, Christa Hude, Martijn Huijnen, Heather Jackson, Rebecca Jennings, Joanne Johnston, Ilse Jongerius, Rikke Jorgensen, Christian Kahlert, Rama Kandasamy, Matthias Kappler, Julia Keil, Markus Keldorfer, Dominic F. Kell, Eunjung Kim, Sharon King, Lieke Kloosterhuis, Daniela S. Kohlfürst, Benno Kohlmaier, Laura Kolberg, Mojca Kolnik, Larissa Krenn, Taco Kuijpers, M. van der Kuip, Pilar Leboráns Iglesias, Simon Leigh, Manuel Leitner, M. van Leur, Emma Lim, Naomi Lin, Ching-Chuan Liu, Sabine Löffler, Eberhard Lurz, Ian Maconochie, Christine Mackerness, François Mallet, Federico Martinón-Torres, Antonis Marmarinos, Alex Martin, Mike Martin, José María Martinón Sánchez, Nazareth Martinón-Torres, Paul McAlinden, Anne McDonnell, Sam McDonald, C.J. Miedema, Anija Meiere, Stephanie Menikou, G. van Mierlo, Alec Miners, Ravi Mistry, Henriëtte A. Moll, Marine Mommert, Belén Mosquera Pérez, David R. Murdoch, Sobia Mustafa, Giancarlo Natalucci, C. Neeleman, Karen Newall, Samuel Nichols, Tobias Niedrist, Anita Niederer-Loher, Ruud Nijman, Ieva Nokalna, Urzula Nora Urbāne, Gudrun Nordberg, C.C. Obihara, Daniel O'Connor, Wilma Oosthoek, Veronika Osterman, Alexandre Pachot, D. Pajkrt, Jacobo Pardo-Seco, Stéphane Paulus, Jana Pavāre, Ivonne Pena Paz, Salina Persand, Andreas Pfleger, Klaus Pfurtscheller, Ria Philipsen, Ailsa Pickering, Benjamin Pierce, Heidemarie Pilch, Lidia Piñeiro Rodríguez, Sara Pischedda, Tina Plankar Srovin, Marko Pokorn, Andrew J. Pollard, Lena Pölz, Klara M. Posfay-Barbe, Petra Prunk, Zanda Pučuka, Glorija Rajic, Aqeela Rashid, Lorenzo Redondo-Collazo, Christa Relly, Irene Rivero Calle, Sara Rey Vázquez, Mathew Rhodes, Vivien Richmond, Thomas Riedel, Anna RocaIsatou Sarr, Siegfried Rödl, Carmen Rodríguez-Tenreiro, Sam Romaine, Emily Rowlands, Miguel Sadiki Ora, Manfred G. Sagmeister, Momodou Saidykhan, Antonio Salas, Luregn J. Schlapbach, D. Schonenberg, Fatou Secka, Katrīna Selecka, Sonia Serén Fernández, Cristina Serén Trasorras, Priyen Shah, Ching-Fen Shen, Shrijana Shrestha, Aleksandra Sidorova, Andrea Skrabl-Baumgartner, Giselle D’Souza, Matthias Sperl, Evelien Sprenkeler, Nina A. Schweintzger, Laura Stampfer, Molly Stevens, Martin Stocker, Volker Strenger, Dace Svile, Kelly Syggelou, Maria Tambouratzi, Chantal Tan, Emma Tavliavini, Evelyn Thomson, Stephen Thorson, Holger Till, G.A. Tramper-Stranders, Andreas Trobisch, Maria Tsolia, Effua Usuf, Lucille Valentine, Clementien L. Vermont, Marisol Vilas Iglesias, Katarina Vincek, Marie Voice, Gabriella de Vries, Diane Wallia, Shih-Min Wang, Clare Wilson, Amanda Wood, Phil Woodsford, Victoria Wright, Marietta Xagorari, Shunmay Yeung, Joany Zachariasse, Dace Zavadska, Syed M.A. Zaman, Judith Zandstra, Werner Zenz, Christoph Zurl, Manuela Zwerenz
Publikováno v:
iScience, Vol 26, Iss 8, Pp 107257- (2023)
Summary: Mechanisms of infection and pathogenesis have predominantly been studied based on differential gene or protein expression. Less is known about posttranslational modifications, which are essential for protein functional diversity. We applied
Externí odkaz:
https://doaj.org/article/35a6119d270e4b0186fcc2bee4205166
Autor:
Marcus Keatinge, Matthew E. Gegg, Lisa Watson, Heather Mortiboys, Nan Li, Mark Dunning, Deepak Ailani, Hai Bui, Astrid van Rens, Dirk J. Lefeber, Anthony H. V. Schapira, Ryan B. MacDonald, Oliver Bandmann
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
Externí odkaz:
https://doaj.org/article/2eda39a160ff472d9a32f0cc12287c6c
Autor:
Hideki Tokuoka, Rieko Imae, Hitomi Nakashima, Hiroshi Manya, Chiaki Masuda, Shunsuke Hoshino, Kazuhiro Kobayashi, Dirk J. Lefeber, Riki Matsumoto, Takashi Okada, Tamao Endo, Motoi Kanagawa, Tatsushi Toda
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Ribitol-phospate modification is essential for the function of α-dystroglycan, and mutations in ISPD, an enzyme that synthesizes the the ribitol-phosphate donor CDP-ribitol, cause muscular dystrophy. Here, the authors show that recovery of CDP-ribit
Externí odkaz:
https://doaj.org/article/8eec98bd453046afa082b52bdd681c80
Autor:
Lars E. Larsen, Marjolein A.W. van den Boogert, Wilson A. Rios-Ocampo, Jos C. Jansen, Donna Conlon, Patrick L.E. Chong, J. Han M. Levels, Roos E. Eilers, Vinay V. Sachdev, Noam Zelcer, Tobias Raabe, Miao He, Nicholas J. Hand, Joost P.H. Drenth, David J. Rader, Eric S.G. Stroes, Dirk J. Lefeber, Johan W. Jonker, Adriaan G. Holleboom
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 13, Iss 2, Pp 583-597 (2022)
Background & Aims: Recently, novel inborn errors of metabolism were identified because of mutations in V-ATPase assembly factors TMEM199 and CCDC115. Patients are characterized by generalized protein glycosylation defects, hypercholesterolemia, and f
Externí odkaz:
https://doaj.org/article/f83a6ee89be64fb6964bdd0493f8352e
Autor:
Johan F. A. Pijnenborg, Emiel Rossing, Jona Merx, Marek J. Noga, Willem H. C. Titulaer, Nienke Eerden, Raisa Veizaj, Paul B. White, Dirk J. Lefeber, Thomas J. Boltje
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-9 (2021)
Aberrant expression of fucosylated glycans has been linked to several disease states. Control of fucose expression on live cells is needed to aid research and therapy development. Here the authors report on the development of a class of fucosylation
Externí odkaz:
https://doaj.org/article/f75d0352f311415b8d2a6f71407cf0de
Autor:
Federica Conte, Marek J. Noga, Monique van Scherpenzeel, Raisa Veizaj, Rik Scharn, Juda-El Sam, Chiara Palumbo, Frans C. A. van den Brandt, Christian Freund, Eduardo Soares, Huiqing Zhou, Dirk J. Lefeber
Publikováno v:
Cells, Vol 12, Iss 13, p 1765 (2023)
Metabolism not only produces energy necessary for the cell but is also a key regulator of several cellular functions, including pluripotency and self-renewal. Nucleotide sugars (NSs) are activated sugars that link glucose metabolism with cellular fun
Externí odkaz:
https://doaj.org/article/ed7d94ffbd454f9c961218eac0c44815
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 10, p 8632 (2023)
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes
Externí odkaz:
https://doaj.org/article/54c1f812f887432fa503257f0f1b6f39
Autor:
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8247 (2023)
Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder c
Externí odkaz:
https://doaj.org/article/764ad37d103c4846adf3b11e0471176b