Associated Papers
EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.
Wijeratne HRS et al.
Biorxiv : the Preprint Server for Biology, 2026
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
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
40501579 (PubMed )
Supplement: media-1.pdf
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
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Kortüm F et al.
European Journal of Human Genetics : Ejhg, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.
Gillespie A et al.
Rna (new York, N.y.), 2017
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A et al.
Journal of Neurology, 2014
Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
Müller JS et al.
Journal of Neuromuscular Diseases, 0
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