Homa Ghalei

The paper systematically analyzes eight pathogenic EXOSC3 variants in yeast to determine their functional consequences on RNA exosome function.

The paper investigates how EXOSC3 S1-domain variants disrupt RNA exosome function, leading to altered rRNA processing and mRNA targeting.

The paper compares disease-linked missense mutations in the RNA exosome using yeast models to identify shared and distinct functional consequences in translation.

This study identifies distinct roles of arginine fingers in Rvb1 and Rvb2 ATPases, showing how changes in their active sites affect catalytic activity, protein interactions, and cellular functions.

This paper identifies a biallelic EXOSC4 variant causing translational defects and a neurodevelopmental disorder through functional studies in yeast.

The paper identifies a kinase-dependent checkpoint involving Rio1, Nob1, and Pno1 that prevents immature ribosomes from entering the translating pool, ensuring proper maturation and preventing fidelity defects.