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

Abstract excerpt

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 seven (PCH7), a rare but serious neurodevelopmental and neurodegenerative disease that leads to early mortality. The biochemical mechanisms for why these PCH7-linked mutations...

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