Associated Papers
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.
Sterrett MC et al.
Rna (new York, N.y.), 2025
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
[Pontocerebellar hypoplasia type 1F associated with homozygous variation of EXOSC1 gene in a neonate].
Xie HQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2025
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
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
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