ArticleJournal of neuromuscular diseases
Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
Article in Journal of neuromuscular diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Tissue-Derived Small Extracellular Vesicles: Emerging Regulators of Inter-Organ Crosstalk in Health and Disease.Metabolites · 2026Review
- Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.Journal of clinical medicine · 2022Article
- RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.Life science alliance · 2020Article
- A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.PLoS genetics · 2020Article
- MRNA Transcription, Translation, and Defects in Developmental Cognitive and Behavioral Disorders.Frontiers in molecular biosciences · 2020Review
- Article
- Loss of mRNA surveillance pathways results in widespread protein aggregation.Scientific reports · 2018Article
- Article
- The non-stop decay mRNA surveillance pathway is required for oxidative stress tolerance.Nucleic acids research · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Defects of RNA metabolism have been increasingly identified in various forms of inherited neurological diseases. Recently, abnormal RNA degradation due to mutations in human exosome subunit genes has been shown to cause complex childhood onset neurological presentations including spinal muscular atrophy, pontocerebellar hypoplasia and myelination deficiencies. This paper summarizes our current knowledge about the exosome in human neurological disease and provides some important insights into potential disease mechanisms.
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What OpenQuestion holds
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.