Author

A. H. Corbett

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Open access Sep 2026

Sex-specific metabolic regulation by the Drosophila RNA-binding protein Nab2

Conserved RNA binding proteins (RBPs) regulate key steps of gene expression including mRNA processing, export, localization, stability and translation. Human ZC3H14 is a conserved RBP that regulates pre-mRNA processing in neurons and loss of ZC3H14 leads to neurological defects. Studies of Nab2, the Drosophila ortholog...

Jordan N. Goldy, Heath Dunlop, Devshree Patel et al. · bioRxiv · 0 citations

Open access Aug 2026

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

A patient with cerebellar atrophy, ataxia, and global developmental delay is described, and trio exome sequencing identified compound heterozygous variants in the final subunit EXOSC6.

Khondakar Sayef Ahammed, Renzo Guerrini, Milo B. Fasken et al. · medRxiv · 0 citations