Associated Papers
Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.
Ahammed KS et al.
G3 (bethesda, Md.), 2025
Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency†.
Kline BL et al.
Biology of Reproduction, 2025
Pontocerebellar hypoplasia: a review from 1912 to 2022.
Kukulka NA et al.
Brain Communications, 2025
40936650 (PubMed )
Supplement: fcaf298_supplementary_data.pdf
In vivo characterization of the critical interaction between the RNA exosome and the essential RNA helicase Mtr4 in Saccharomyces cerevisiae.
Sterrett MC et al.
G3 (bethesda, Md.), 2023
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.
Damseh NS et al.
American Journal of Medical Genetics. Part A, 2023
Analysis of RNA Exosome Subunit Transcript Abundance Across Tissues: Implications for Neurological Disease Pathogenesis.
de Amorim JL et al.
Biorxiv : the Preprint Server for Biology, 2023
The RNA helicase DDX1 associates with the nuclear RNA exosome and modulates R-loops.
de Amorim JL et al.
Biorxiv : the Preprint Server for Biology, 2023
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Somashekar PH et al.
Clinical Genetics, 2021
Select a paper to view details