ReviewIntractable & rare diseases research2014
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors.
Review in Intractable & rare diseases research, 2014. 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, 27 citations in OpenAlex.
- Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.Frontiers in immunology · 2026Article
- Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.Molecular biology reports · 2024Article
- NovelTranslational pediatrics · 2022Article
- Hydrogen-deuterium exchange mass spectrometry of Mtr4 with diverse RNAs reveals substrate-dependent dynamics and interfaces in the arch.Nucleic acids research · 2022Article
- Case Report: A Novel Homozygous Frameshift Mutation of theFrontiers in genetics · 2022Article
- EXOSC5 promotes proliferation of gastric cancer through regulating AKT/STAT3 signaling pathways.Journal of Cancer · 2022Article
- Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).European journal of human genetics : EJHG · 2021Article
- Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.Human molecular genetics · 2020Article
- Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.Nature communications · 2019Article
- A panel of biomarkers for skin squamous cell carcinoma: various functional entities and differential responses to resveratrol.International journal of clinical and experimental pathology · 2019Article
- Noncoding RNA Surveillance: The Ends Justify the Means.Chemical reviews · 2018Review
- Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.SAGE open medical case reports · 2018Article
- Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.Frontiers in immunology · 2018Article
- Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.Intractable & rare diseases research · 2017Review
- Targeting RNA for processing or destruction by the eukaryotic RNA exosome and its cofactors.Genes & development · 2017Review
- Nuclear RNA Exosome at 3.1 Å Reveals Substrate Specificities, RNA Paths, and Allosteric Inhibition of Rrp44/Dis3.Molecular cell · 2016Article
- Structure of a Cytoplasmic 11-Subunit RNA Exosome Complex.Molecular cell · 2016Article
- Article
- Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.Journal of neuromuscular diseasesArticle
- Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The RNA exosome has a key role in RNA decays and RNA quality control. In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) and Ponto-cerebellar hypoplasia type 1(PCH1) were linked to the RNA exosome or its cofactor's defect. SD/THE's main features are an intractable diarrhea of infancy associated with hair abnormalities, facial dysmorphism, intra uterine growth restriction and immune deficiency. SD/THE is caused by a defect of the SKI complex (TTC37 and SKIV2L), the cytoplasmic co-factor of the RNA exosome for mRNA degradation. PCH1's main features are atrophy of the pons and of the cerebellum, a progressive microcephaly with developmental delay and muscle atrophy secondary to spinal anterior horn cell loss. In 30-40% of patients, PCH1 is caused by a defect in EXOSC3 which encodes RRP40, a protein of the cap of the RNA exosome. Thanks to knowledge about other forms of PCH it could be assumed that the altered substrates are probably transfer RNA However, as there exists no patient with two null mutations, residual RNA exosome functionality is probably required to preserve viability. Thus, to date two very different human Mendelian diseases have been related to the dysfunctioning of the RNA exosome. It illustrates the versatility of the RNA exosome function and substrate.
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