Sara W. Leung

This study identifies a female-specific role for Nab2 in regulating insulin signaling and fat storage through neuronal control of dilp2 and dilp5 mRNA levels in Drosophila.

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

This paper identifies Nab2-regulated splicing of trio mRNA as critical for balancing Trio GEF domains and shaping axon and dendrite morphology in Drosophila neurons.

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

This study identifies Nab2's role in regulating m6A-dependent splicing of Sxl in Drosophila neuronal tissue, linking it to developmental and behavioral phenotypes.

The paper creates a yeast model of SHRF mutations in EXOSC2 and compares it to an EXOSC3 mutation model, showing distinct RNA exosome functional impacts.

This study uses a Drosophila model to show that mutations in EXOSC3 cause neuronal dysfunction by altering RNA exosome function and affecting key neuronal RNAs.

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.