ArticleNature communications2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.
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Who cites it
94 citing papers in PubMed, 155 citations in OpenAlex.
- Review
- Cellular assembly and functional resilience of the mammalian RNA exosome.The EMBO journal · 2026Article
- Review
- Pontocerebellar hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization.The Journal of biological chemistry · 2026Article
- RNA exosome component EXOSC10 variants identified in a patient with premature ovarian insufficiency†.Biology of reproduction · 2026Article
- EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.bioRxiv : the preprint server for biology · 2026Article
- The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.Cell reports · 2026Article
- Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6 th Family with The EXOSC8 Gene Mutation.Annals of Indian Academy of Neurology · 2025Article
- Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.bioRxiv : the preprint server for biology · 2025Article
- Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders.Science (New York, N.Y.) · 2025Article
- Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.RNA (New York, N.Y.) · 2025Article
- Review
- Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.G3 (Bethesda, Md.) · 2025Article
- EXOSC5: a novel biomarker for poor prognosis in lung adenocarcinoma.BMC cancer · 2025Article
- Built differently or defective: can RNA exosomopathies cause ribosome heterogeneity?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Functional characterization of human recessive DIS3 variants in premature ovarian insufficiency†.Biology of reproduction · 2025Article
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- Review
- The MTR4/hnRNPK complex surveils aberrant polyadenylated RNAs with multiple exons.Nature communications · 2024Article
- Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 10 institutions in 6 countries.
Funding
Abstract
The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. These findings show the central role of the exosomal pathway in neurodegenerative disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.