Zobrazeno 1 - 10
of 38
pro vyhledávání: '"de Greef, JC"'
Autor:
Olie, CS, Pinto-Fernández, A, Damianou, A, Vendrell, I, Mei, H, den Hamer, B, van der Wal, E, de Greef, JC, Raz, V, Kessler, BM
The ubiquitin proteasomal system is a critical regulator of muscle physiology, and impaired UPS is key in many muscle pathologies. Yet, little is known about the function of deubiquitinating enzymes (DUBs) in the muscle cell context. We performed a g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c02ef69f371b2b7a5e84721f23af27
https://doi.org/10.21203/rs.3.rs-2172567/v1
https://doi.org/10.21203/rs.3.rs-2172567/v1
Autor:
Fabrice Prin, Shifeng Xue, Yvonne D. Krom, Benetti N, Matthew E. Ritchie, Andrew Keniry, Natasha Jansz, de Greef Jc, Bouwman Lf, Tamara Beck, den Hamer B, Hannah Vanyai, Kelan Chen, Timothy J. Mohun, Edwina McGlinn, Tapia del Fierro A, James M. Murphy, Kelsey Breslin, van der Hoorn D, Harald Oey, Marnie E. Blewitt, Alexandra D. Gurzau, Lucia Daxinger, van der Maarel Sm, Wanigasuriya I, Bruno Reversade, Nguyen Ly Tt
The interplay between 3D chromatin architecture and gene silencing is incompletely understood. Here, we report a novel point mutation in the non-canonical SMC protein SMCHD1 that enhances its silencing capacity at endogenous developmental targets and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::122339533082382fd1db20eccc936dfd
https://doi.org/10.1101/2021.05.12.443934
https://doi.org/10.1101/2021.05.12.443934
Autor:
van der Wal E, Lin I, Yao-Shen Chen, Cyriel S. Olie, Raz, Josef M. Penninger, E Kareem, C Domagoj, de Greef Jc, L Maton, Benedikt M. Kessler
The polyadenylation binding protein nucleus 1 (PABPN1), a multifactorial regulator of mRNA processing, regulates muscle wasting and atrophy. Previously, we elucidated the PABPN1-dependent proteome and found that levels of structural proteins, sarcome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccce04caea63af05ac145508f0ceac51
https://doi.org/10.1101/2020.01.15.907311
https://doi.org/10.1101/2020.01.15.907311
Autor:
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R, de Greef, J C, Lemmers, R J L F, Camaño, P
Publikováno v:
Neurology; 10/26/2010, Vol. 75 Issue 17, p1548-1554, 7p
Autor:
In 't Groen SLM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands.; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands.; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands., Franken M; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands., Bock T; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany., Krüger M; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine, University of Cologne, Cologne, Germany., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands., Pijnappel WWMP; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands. w.pijnappel@erasmusmc.nl.; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, 3015 GE, The Netherlands. w.pijnappel@erasmusmc.nl.; Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands. w.pijnappel@erasmusmc.nl.
Publikováno v:
Skeletal muscle [Skelet Muscle] 2024 Feb 22; Vol. 14 (1), pp. 3. Date of Electronic Publication: 2024 Feb 22.
Autor:
van der Wal E; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Iuliano A; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands., In 't Groen SLM; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands., Bholasing AP; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands., Priesmann D; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Center for Molecular Medicine, University of Cologne, Cologne, Germany., Sharma P; Physical Chemistry and Soft Matter, Wageningen University and Research, 6708 WE Wageningen, the Netherlands., den Hamer B; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Saggiomo V; Department of BioNanoTechnology, Wageningen University and Research, 6708 WG Wageningen, the Netherlands., Krüger M; Institute of Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Center for Molecular Medicine, University of Cologne, Cologne, Germany., Pijnappel WWMP; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands. Electronic address: w.pijnappel@erasmusmc.nl., de Greef JC; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands. Electronic address: j.c.de_greef@lumc.nl.
Publikováno v:
Stem cell reports [Stem Cell Reports] 2023 Oct 10; Vol. 18 (10), pp. 1954-1971. Date of Electronic Publication: 2023 Sep 28.
Autor:
Tapia Del Fierro A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., den Hamer B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Benetti N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Jansz N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Chen K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Beck T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Vanyai H; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Daxinger L; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Ly TTN; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore., Wanigasuriya I; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Breslin K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia., Oey H; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Krom YD; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., van der Hoorn D; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Johanson TM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Ritchie ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Gouil QA; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore, Singapore., Prin F; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., Mohun T; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., McGlinn E; EMBL Australia, Monash University, Clayton, VIC, Australia.; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC, Australia., Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, VIC, Australia., Keniry A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia. blewitt@wehi.edu.au.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. blewitt@wehi.edu.au.
Publikováno v:
Nature communications [Nat Commun] 2023 Sep 25; Vol. 14 (1), pp. 5466. Date of Electronic Publication: 2023 Sep 25.
Autor:
Olie CS; Human Genetics department, Leiden University Medical Centre, 2333ZC, Leiden, The Netherlands., Pinto-Fernández A; Chinese Academy for Medical Sciences Oxford Institute, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7FZ, UK.; Target Discovery Institute, Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7FZ, UK., Damianou A; Chinese Academy for Medical Sciences Oxford Institute, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7FZ, UK.; Target Discovery Institute, Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7FZ, UK., Vendrell I; Chinese Academy for Medical Sciences Oxford Institute, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7FZ, UK.; Target Discovery Institute, Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7FZ, UK., Mei H; Sequencing Analysis Support Core, Leiden University Medical Centre, 2333ZC, Leiden, The Netherlands., den Hamer B; Human Genetics department, Leiden University Medical Centre, 2333ZC, Leiden, The Netherlands., van der Wal E; Human Genetics department, Leiden University Medical Centre, 2333ZC, Leiden, The Netherlands., de Greef JC; Human Genetics department, Leiden University Medical Centre, 2333ZC, Leiden, The Netherlands., Raz V; Human Genetics department, Leiden University Medical Centre, 2333ZC, Leiden, The Netherlands. v.raz@lumc.nl., Kessler BM; Chinese Academy for Medical Sciences Oxford Institute, Nuffield Department of Medicine, University of Oxford, Roosevelt Drive, Oxford, OX3 7FZ, UK. benedikt.kessler@ndm.ox.ac.uk.; Target Discovery Institute, Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, OX3 7FZ, UK. benedikt.kessler@ndm.ox.ac.uk.
Publikováno v:
Cell death & disease [Cell Death Dis] 2023 Mar 31; Vol. 14 (3), pp. 231. Date of Electronic Publication: 2023 Mar 31.
Autor:
Tihaya MS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Mul K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Balog J; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Tapscott SJ; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA., Statland JM; Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA., van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. maarel@lumc.nl.
Publikováno v:
Nature reviews. Neurology [Nat Rev Neurol] 2023 Feb; Vol. 19 (2), pp. 91-108. Date of Electronic Publication: 2023 Jan 10.