Article

Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization

2025-09-18

Abstract excerpt

<h4>ABSTRACT</h4> The Target of EGR1 (TOE1) gene encodes the TOE1 deadenylase, which is essential for the maturation of Pol-II transcribed snRNAs in humans. Over a dozen missense mutations in the TOE1 gene have been linked to Pontocerebellar Hypoplasia Type 7 (PCH7), a rare but serious neurodevelopmental and neurodegenerative disease that leads to early mortality. The biochemical mechanisms for why these PCH7-lin...

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Literature Corpus work: 7da7ebe5-a848-5e56-b7b2-bb0df150d836
DOI: 10.1101/2025.09.18.672001

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Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerizationDOI 10.1101/2025.09.18.672001Read

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