Milo B. Fasken

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

The paper reports a patient with a neurodevelopmental disorder caused by biallelic EXOSC6 variants, expanding the known spectrum of exosomopathies.

This paper shows that overexpressing Eaf1, a NuA4 subunit, rescues growth defects in yeast with H3K36M mutations by acetylating histone H4 tails.

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

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 characterizes a missense mutation in EXOSC2 that affects the RNA exosome-Mtr4 interaction in yeast, showing functional consequences in RNA processing and drug sensitivity.

The paper uses a budding yeast model to study the functional effects of oncogenic histone missense mutations and identifies suppressor genes involved in histone function and transcriptional regulation.

This study identifies genetic interactions between Nab2 and RNA exosome cofactors, revealing their role in regulating transcript stability through RNA-seq analysis.

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.