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Y

Ype Elgersma

Erasmus MC
H指数:61
被引数:1.1万

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATP酶亚基基因PSMC5在神经发育性蛋白酶体病理学中的神经元作用

Nature Communications
IF15.7
2025-11-260
OA
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation

UBE3A通过靶向ABCA1进行蛋白酶体降解，促进泡沫细胞形成并阻碍髓鞘再生。

Nature Communications
IF15.7
2025-08-290
OAAI
Melanie Loix; Sam Vanherle; Laura Bolkaerts; Sanne G. S. Verberk; Mattijs Punt; Flore Wouters; Brecht Moonen; Rob Verhagen; Suzanne A. E. Van Wouw; Aldo Jongejan; Ben Distel; Ype Elgersma; Mansour Haidar; Noam Zelcer; Jerome J. A. Hendriks; Jeroen F. J. Bogie
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
LAB ANIMAL
IF3.9
2024-06-240
OAAI
Ellwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare disorder
GENETICS IN MEDICINE
IF6.2
2024-06-011
OAAI
Lecoquierre, Francois; Punt, A. Mattijs; Ebstein, Frederic; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Se bastien; Mau-Them, Frededic Tran; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Ojeda, Mayra Martinez; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2023-05-3111
OA
Ebstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, Stephane
Molecular and behavioral consequences of Ube3a gene overdosage in mice
JCI INSIGHT
IF6.1
2022-09-228
OA
Punt, A. Mattijs; Judson, Matthew C.; Sidorov, Michael S.; Williams, Brittany N.; Johnson, Naomi S.; Belder, Sabine; den Hertog, Dion; Davis, Courtney R.; Feygin, Maximillian S.; Lang, Patrick F.; Jolfaei, Mehrnoush Aghadavoud; Curran, Patrick J.; van Ijcken, Wilfred F. J.; Elgersma, Ype; Philpot, Benjamin D.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

MAP3K7基因: 临床特征和基因型/表型相关性的进一步描述

HUMAN MUTATION
IF3.7
2022-07-297
OAAI
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R.; Terhal, Paulien A.; Weaver, Kathryn Nicole; Wessels, Marja W.; van Wieringen, Hester; Hurst, Anna C.; Gooch, Catherine F.; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet

研究方向

暂未获取到该数据
G
Geeske M. van Woerden
H 指数:33论文数:83被引数:3,673
S
Steven A. Kushner
H 指数:57论文数:232被引数:1.3万
B
Ben Distel
H 指数:46论文数:100被引数:6,881
E
Edwin Mientjes
H 指数:30论文数:55被引数:3,266
H
Henriëtte A. Moll
H 指数:75论文数:491被引数:2.4万
I
Ilse Wallaard
H 指数:9论文数:15被引数:412
M
Marie‐Claire Y. de Wit
H 指数:34论文数:122被引数:4,170
A
André B. Rietman
H 指数:20论文数:101被引数:1,758
A
A. Mattijs Punt
H 指数:9论文数:13被引数:361
S
Sabine E. Mous
H 指数:17论文数:48被引数:1,549