Pontocerebellar hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization
Lizette Zavala, Magdalena Sobien, Cassandra K Hayne · 2026
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Description
A rare disease called pontocerebellar hypoplasia type 7 stunts brain growth and kills in early childhood. Lizette Zavala, Magdalena Sobien, and Cassandra Hayne studied the gene behind it in 2026, called TOE1, which makes an enzyme that trims small RNA molecules as they mature. Over a dozen gene changes in TOE1 have been linked to the disease, but how they harm the enzyme was unclear.
The team tested eleven disease-linked variants of the enzyme in the lab. Eight variants made the protein less stable under heat, and nearly all cut its trimming activity. One variant also changed how the enzyme groups together. The catalog of damaged variants may guide future treatment ideas and basic studies.
Catalog record
| CREATOR | Lizette Zavala, Magdalena Sobien, Cassandra K Hayne |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 40 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |