Article

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

2023-01-25

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 hemizygou...

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Literature Corpus work: 08bbf737-87c3-5ab8-b2d4-fbae860d897b
DOI: 10.1101/2023.01.25.525394

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