ArticleJournal of neurology2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- 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
- 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.bioRxiv : the preprint server for biology · 2025Article
- Review
- Article
- A budding yeast model for human disease mutations in theRNA (New York, N.Y.) · 2021Article
- Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.BMJ case reports · 2021Article
- Post-transcriptional control of cellular differentiation by the RNA exosome complex.Nucleic acids research · 2020Review
- Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.Human molecular genetics · 2020Article
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.PLoS genetics · 2020Article
- Regulation of long non-coding RNAs and genome dynamics by the RNA surveillance machinery.Nature reviews. Molecular cell biology · 2020Review
- The RNA Exosome and Human Disease.Methods in molecular biology (Clifton, N.J.) · 2020Review
- The RNA exosome and RNA exosome-linked disease.RNA (New York, N.Y.) · 2018Review
- The RNA Exosome Syncs IAV-RNAPII Transcription to Promote Viral Ribogenesis and Infectivity.Cell · 2017Article
- Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.Genetics · 2017Article
- Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.Journal of neurology · 2014Article
- EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Nature communications · 2014Article
- EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Orphanet journal of rare diseases · 2014Article
- Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.Intractable & rare diseases research · 2014Review
- Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.Journal of neuromuscular diseasesArticle
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Pontocerebellar hypoplasia (PCH) type 1 is characterized by the co-occurrence of spinal anterior horn involvement and hypoplasia of the cerebellum and pons. EXOSC3 has been recently defined as a major cause of PCH type 1. Three different phenotypes showing variable severity have been reported. We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype". Interestingly, isolated cerebellar hypoplasia limited to the hemispheres or involving both hemispheres and vermis was the main neuroradiologic finding, whereas the pontine volume was in the normal range for age. These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia.
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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.