ArticleNature communications2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 25 citations in OpenAlex.
- CHD6 promotes triple-negative breast cancer progression and is associated with PI3K/AKT and MAPK pathways.International journal of clinical oncology · 2026Article
- Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Role of CHD chromatin remodelers in heart development.World journal of pediatrics : WJP · 2026Review
- A review of Hallermann-Streiff syndrome demonstrates clinical overlap with other conditions.Orphanet journal of rare diseases · 2026Review
- Chromodomain helicase DNA-binding proteins and orofacial cleft.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2026Review
- Roles of Autophagy, Mitophagy, and Mitochondria in Left Ventricular Remodeling after Myocardial Infarction.Reviews in cardiovascular medicine · 2025Review
- CHD6 has poly(ADP-ribose)- and DNA-binding domains and regulates PARP1/2-trapping inhibitor sensitivity via abasic site repair.Nature communications · 2025Article
- CHD6 eviction of promoter nucleosomes maintains housekeeping transcriptional program in prostate cancer.Molecular therapy. Nucleic acids · 2024Article
- Premature senescence is regulated by crosstalk among TFEB, the autophagy lysosomal pathway and ROS derived from damaged mitochondria in NaAsOCell death discovery · 2024Article
- Remodeling of the endothelial cell transcriptional program via paracrine and DNA-binding activities of MPO.iScience · 2024Article
- Selective autophagy in cancer: mechanisms, therapeutic implications, and future perspectives.Molecular cancer · 2024Review
- Targeting shared pathways in tauopathies and age-related macular degeneration: implications for novel therapies.Frontiers in aging neuroscience · 2024Review
- Epigenetic regulation ofAutophagy · 2024Review
- Inflammation and DNA damage: cause, effect or both.Nature reviews. Rheumatology · 2023Review
- The chromatin remodeler CHD6 promotes colorectal cancer development by regulating TMEM65-mediated mitochondrial dynamics via EGF and Wnt signaling.Cell discovery · 2022Article
- CHD6 promotes broad nucleosome eviction for transcriptional activation in prostate cancer cells.Nucleic acids research · 2022Article
- Review
- Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies.Frontiers in molecular biosciences · 2022Review
- Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.Genes · 2021Review
- Hydroxygenkwanin Increases the Sensitivity of Liver Cancer Cells to Chemotherapy by Inhibiting DNA Damage Response in Mouse Xenograft Models.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
30 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 genomics with functional in vivo and in vitro assays, we show that CHD6 binds a cohort of autophagy and stress response genes across cell types. The HSS mutation affects CHD6 protein folding and impairs its ability to recruit co-remodelers in response to DNA damage or autophagy stimulation. This leads to accumulation of DNA damage burden and senescence-like phenotypes. We therefore uncovered a molecular mechanism explaining HSS onset via chromatin control of autophagic flux and genotoxic stress surveillance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.