Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sara Reynhout"'
Autor:
Iris Verbinnen, Sara S. Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A. King
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
PP2A-related (neuro) developmental disorders are a family of genetic diseases caused by a heterozygous alteration in one of several genes encoding a subunit of type 2A protein phosphatases. Reported affected genes, so far, are PPP2R5D, encoding the P
Externí odkaz:
https://doaj.org/article/2d623b682c10495e8eb5dbcf0c3502dc
Autor:
Nora Oyama, Pieter Vaneynde, Sara Reynhout, Emily M Pao, Andrew Timms, Xiao Fan, Kimberly Foss, Rita Derua, Veerle Janssens, Wendy Chung, Ghayda M Mirzaa
Publikováno v:
Journal of Medical Genetics. 60:511-522
BackgroundVariants inPPP2R5D, affecting the regulatory B56δ subunit of protein phosphatase 2A (PP2A), have been identified in individuals with neurodevelopmental abnormalities. However, the molecular and clinical spectra remain incompletely understo
Autor:
Pieter Vaneynde, Lisa Lenaerts, Gunnar Houge, Rita Derua, Veerle Janssens, Iris Verbinnen, Sara Reynhout
By removing Ser/Thr-specific phosphorylations in a multitude of protein substrates in diverse tissues, Protein Phosphatase type 2A (PP2A) enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670714417d66504dca3b1eae7430317c
https://lirias.kuleuven.be/handle/123456789/677602
https://lirias.kuleuven.be/handle/123456789/677602
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
Sara Reynhout, Veerle Janssens
Protein Phosphatase 2A (PP2A) encompasses a large family of Ser/Thr phosphatases, consisting of a catalytic C subunit and a structural A subunit that are, in most cases, further bound to a regulatory B-type subunit. The B-type subunits determine func
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cea7b7ace581c3d1c89d58d83ee327f
https://lirias.kuleuven.be/handle/123456789/626016
https://lirias.kuleuven.be/handle/123456789/626016
Autor:
Ellen Macnamara, Marlène Rio, Nicole Revencu, Saleem Malik, Siska Van Belle, Maura R.Z. Ruzhnikov, Jolanda H. Schieving, Lisenka E.L.M. Vissers, Barak Tziperman, Hilde M.H. Braakman, Alma Kuechler, Susan Sell, Philip Harrer, Ernie M.H.F. Bongers, Marjolein Kriek, Dagmar Wieczorek, Bert B.A. de Vries, Christopher T. Gordon, Jeanne Amiel, Matias Wagner, Dorien Haesen, Roger L. Ladda, Koen L.I. van Gassen, Elise Brimble, Sandra Jansen, Sonja Henry, Carlo Marcelis, Paulien A Terhal, Nienke E. Verbeek, Ortal Barel, Sara Reynhout, Carlos Ferreira, Jessica Scott Schwoerer, Veerle Janssens, Heather M. McLaughlin, Sonja A. de Munnik, Cacha M.P.C.D. Peeters-Scholte
Publikováno v:
American Journal of Human Genetics, 104, 1, pp. 139-156
American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)
American Journal of Human Genetics, 104(1), 139. Cell Press
American Journal of Human Genetics, 104, 139-156
Am. J. Hum. Genet. 104, 139-156 (2019)
American Journal of Human Genetics, 104(1), 139-156
American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)
American Journal of Human Genetics, 104(1), 139. Cell Press
American Journal of Human Genetics, 104, 139-156
Am. J. Hum. Genet. 104, 139-156 (2019)
American Journal of Human Genetics, 104(1), 139-156
Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-ty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bebe5a429039fe84e3b036fb1114bb20
https://hdl.handle.net/2066/202645
https://hdl.handle.net/2066/202645