Associated Papers
EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.
Wijeratne HRS et al.
Biorxiv : the Preprint Server for Biology, 2026
EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNA.
Runnebohm AM et al.
Biorxiv : the Preprint Server for Biology, 2025
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L et al.
Acs Chemical Biology, 2018
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR et al.
Orphanet Journal of Rare Diseases, 2014
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Wan J et al.
Nature Genetics, 2012
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