Article
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Human molecular genetics - 20 Jul 2023
Tillotson Rebekah, Yan Keqin, Ruston Julie, DeYoung Taylor, Córdova Alex, Turcotte-Cardin Valérie, Yee Yohan, Taylor Christine, Visuvanathan Shagana, Babbs Christian, Ivakine Evgueni A, Sled John G, Nieman Brian J, Picketts David J, Justice Monica J
Abstract excerpt
ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA damage repair and heterochromatin maintenance. It has been widely studied for its role in ALT-positive cancers, but its role in neurological function remains elusive. Hypomorphic mutations in the X-linked ATRX gene cause a rare form of intellectual disability combined with alpha-thalassemia called ATR-X syndrome in...
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