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Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM, Faramarz A, Balk JA, Stewart GS, Cantelli E, Oostra AB, Rooimans MA, Parish JL, de Almeida Estéves C, Dumic K, Barisic I, Diderich KEM, van Slegtenhorst MA, Mahtab M, Pisani FM, Te Riele H, Ameziane N, Wolthuis RMF, de Lange J. van Schie JJM, et al. Among authors: wolthuis rmf. Nat Commun. 2020 Aug 27;11(1):4287. doi: 10.1038/s41467-020-18066-8. Nat Commun. 2020. PMID: 32855419 Free PMC article.
ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation.
van der Weegen Y, de Lint K, van den Heuvel D, Nakazawa Y, Mevissen TET, van Schie JJM, San Martin Alonso M, Boer DEC, González-Prieto R, Narayanan IV, Klaassen NHM, Wondergem AP, Roohollahi K, Dorsman JC, Hara Y, Vertegaal ACO, de Lange J, Walter JC, Noordermeer SM, Ljungman M, Ogi T, Wolthuis RMF, Luijsterburg MS. van der Weegen Y, et al. Among authors: wolthuis rmf. Nat Cell Biol. 2021 Jun;23(6):595-607. doi: 10.1038/s41556-021-00688-9. Epub 2021 Jun 9. Nat Cell Biol. 2021. PMID: 34108663 Free PMC article.
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J. Carvalhal S, et al. Among authors: wolthuis rmf. Sci Adv. 2022 Jan 21;8(3):eabk0114. doi: 10.1126/sciadv.abk0114. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044816 Free PMC article.
Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.
Glykofridis IE, Knol JC, Balk JA, Westland D, Pham TV, Piersma SR, Lougheed SM, Derakhshan S, Veen P, Rooimans MA, van Mil SE, Böttger F, Poddighe PJ, van de Beek I, Drost J, Zwartkruis FJ, de Menezes RX, Meijers-Heijboer HE, Houweling AC, Jimenez CR, Wolthuis RM. Glykofridis IE, et al. Elife. 2021 Jan 18;10:e61630. doi: 10.7554/eLife.61630. Elife. 2021. PMID: 33459596 Free PMC article.
Phosphoproteomic Analysis of FLCN Inactivation Highlights Differential Kinase Pathways and Regulatory TFEB Phosphoserines.
Glykofridis IE, Henneman AA, Balk JA, Goeij-de Haas R, Westland D, Piersma SR, Knol JC, Pham TV, Boekhout M, Zwartkruis FJT, Wolthuis RMF, Jimenez CR. Glykofridis IE, et al. Among authors: wolthuis rmf. Mol Cell Proteomics. 2022 Sep;21(9):100263. doi: 10.1016/j.mcpro.2022.100263. Epub 2022 Jul 19. Mol Cell Proteomics. 2022. PMID: 35863698 Free PMC article.
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