Gaofeng Zhu
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Gaofeng Zhu has a total of 33 co-authors. Here are the top co-authors by number of shared publications:
- Alice Lepelley
Université Paris Cité, Paris, France
1 shared publication Andreas Fellas
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK
1 shared publicationAngie Fawkes
Edinburgh Clinical Research Facility, Western General Hospital, University of Edinburgh, Edinburgh, UK
1 shared publicationBertrand Isidor
Service de Génétique Médicale, CHU Nantes, Nantes, France
1 shared publicationCarolina Uggenti
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK
1 shared publicationErika Van Nieuwenhove
Department of Paediatric Immunology and Rheumatology, Wilhelmina Children’s Hospital/University Medical Center Utrecht, Utrecht, The Netherlands
1 shared publication
Latest Publications
- Open Access
- 8 October 2026
- Published by Springer Nature in Nature Communications
- Vol. 17 (1)
ATRX deficiency drives aberrant type I interferon signalling through cGAS-dependent transcriptional dysregulation
The X-linked α-thalassaemia intellectual disability syndrome (ATRX) protein is a chromatin remodeller involved in transcriptional regulation and genome stability. While the importance of ATRX in development and malignancy is well recognised, its role in innate immunity is less well defined. Here we describe three unrelated patients with ATR-X syndrome carrying missense mutations in the ATPase domain of ATRX, each manifesting features of severe inflammation accompanied by persistent upregulation of interferon-stimulated gene expression in whole blood. Studies in patient-derived cells, CRISPR-engineered fibroblasts and neuronal models demonstrate that ATRX loss-of-function mutations drive enhanced type I interferon signalling through a cGAS-dependent mechanism uncoupled from the DNA sensing activity of cGAS. Mechanistically, ATRX deficiency disrupts the chromatin distribution of DAXX and H3.3, with cGAS essential for the changes in nucleosome composition and gene expression mediated by loss of ATRX. Thus, our study highlights a link between ATRX dysfunction and inflammation involving a non-canonical role of cGAS.
- 8 October 2026
- Published by Springer Nature in Nature Communications
- Vol. 17 (1)
Open AccessATRX deficiency drives aberrant type I interferon signalling through cGAS-dependent transcriptional dysregulation
The X-linked α-thalassaemia intellectual disability syndrome (ATRX) protein is a chromatin remodeller involved in transcriptional regulation and genome stability. While the importance of ATRX in development and malignancy is well recognised, its role in innate immunity is less well defined. Here we describe three unrelated patients with ATR-X syndrome carrying missense mutations in the ATPase domain of ATRX, each manifesting features of severe inflammation accompanied by persistent upregulation of interferon-stimulated gene expression in whole blood. Studies in patient-derived cells, CRISPR-engineered fibroblasts and neuronal models demonstrate that ATRX loss-of-function mutations drive enhanced type I interferon signalling through a cGAS-dependent mechanism uncoupled from the DNA sensing activity of cGAS. Mechanistically, ATRX deficiency disrupts the chromatin distribution of DAXX and H3.3, with cGAS essential for the changes in nucleosome composition and gene expression mediated by loss of ATRX. Thus, our study highlights a link between ATRX dysfunction and inflammation involving a non-canonical role of cGAS.