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
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.
Biorxiv : the Preprint Server for Biology, 2025
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
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.
Reeves A et al.
American Journal of Medical Genetics. Part A, 2022
A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex.
Sterrett MC et al.
Rna (new York, N.y.), 2021
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A et al.
Human Molecular Genetics, 2020
Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.
Yang X et al.
Human Molecular Genetics, 2020
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Modeling Pathogenic Variants in the RNA Exosome.
de Amorim J et al.
Rna & Disease (houston, Tex.), 2020
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Beheshtian M et al.
Clinical Genetics, 2019
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
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.
Fasken MB et al.
Genetics, 2017
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N et al.
Journal of Medical Genetics, 2016
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