Research identifies mutations in the TOE1 gene that impair its thermal stability, ribonuclease activity, and oligomerization, contributing to pontocerebellar hypoplasia. This discovery enhances understanding of the molecular mechanisms underlying this rare disease.
pontocerebellar hypoplasia linked mutations of the deadenylase target of egr1 toe1 impair thermal stability ribonuclease activity and oligomerization
Original title: “Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.”