Article

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

2020-01-27

Abstract excerpt

<h4>ABSTRACT</h4> Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers critically implicated in human pathologies, with CHD6 being one of its least studied members. Here, 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 rele...

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Literature Corpus work: 6b8fc62f-4015-5df9-895c-64bdd09da2ca
DOI: 10.1101/2020.01.27.921171

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