ATRX : From Chromatin Remodeling to Disease

Chromatin remodeling proteins are evolutionarily conserved factors involved in a wide range of biological processes. In this review, we describe ATRX, a chromatin remodeling protein belonging to the SWI/SNF2 family. Its association with different protein complexes, and its roles in embryonic development, sexual differentiation, as well as retinal and brain function. We further discuss and integrate current findings on pathologies associated with ATRX dysfunction such as ATR-X syndrome, focusing on its etiology, clinical features, and potential diagnostic tools. Finally, we propose that ATRX may contribute to the progression of certain neurodegenerative diseases and review recent literature supporting this hypothesis.