Bernstein Lab

Research focus

NIH R01 · 2024

Mechanisms and Modeling of Neuroblastoma-Associated ATRX Alterations

PROJECT SUMMARY Epigenetic deregulation is now widely accepted as a hallmark of pediatric cancer. Mutations and structural alterations of the SWI/SNF-like chromatin remodeler ATRX (Alpha Thalassemia/Mental Retardation, X- linked) have been reported at high frequency in a number of adult and pediatric tumors. However, the consequences of ATRX mutations in cancer and their underlying epigenetic sensitivities remain ill defined. Particularly intriguing are the large N-terminal deletions of ATRX in neuroblastoma (NB) found in older children and adolescents that generate in-frame fusion (IFF) proteins devoid of key chromatin interaction modules. Our preliminary data suggests that NB cells…

From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.