Ambro van Hoof

The paper identifies the Trl1 sealing domain as a promising drug target for antifungal and anti-trypanosomal therapies by analyzing its essentiality in pathogenic fungi and trypanosomes.

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

The paper identifies Rnt1 cleavage sites in yeast mRNA and shows Rnt1 regulates protein-coding genes by controlling mRNA degradation and expression.

This study identifies Levipalatum texanum as a eukaryote lacking tRNA introns and the tRNA splicing endonuclease, revealing adaptations to this loss.

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

The paper identifies that Mucorales fungi use a sealing-only tRNA ligase, implying that targeting sealing activity could lead to broader-spectrum antifungals.

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 identifies suppressors of mRNA decapping defects that allow survival without restoring normal mRNA decay rates.

The paper investigates the origin, conservation, and loss of alternative splicing in Saccharomycotina yeasts, showing that whole genome doubling reduced its frequency.

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.