Article
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Nature communications - 21 May 2021
Kargapolova Yulia, Rehimi Rizwan, Kayserili Hülya, Brühl Joanna, Sofiadis Konstantinos, Zirkel Anne, Palikyras Spiros, Mizi Athanasia, Li Yun, Yigit Gökhan, Hoischen Alexander, Frank Stefan, Russ Nicole, Trautwein Jonathan, van Bon Bregje, Gilissen Christian, Laugsch Magdalena, Gusmao Eduardo Gade, Josipovic Natasa, Altmüller Janine, Nürnberg Peter, Längst Gernot, Kaiser Frank J, Watrin Erwan, Brunner Han, Rada-Iglesias Alvaro, Kurian Leo, Wollnik Bernd, Bouazoune Karim, Papantonis Argyris
Abstract excerpt
Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By combining...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.