ArticleHuman genetics2019
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 89 citations in OpenAlex.
- PUS7 mRNA pseudouridylation is driven by RNA sequence, structure, and cell-type-specific features.Cell genomics · 2026Article
- PUS7 pseudouridylation of 7SK orchestrates human somatic cell reprogramming into iPS cells.Nature chemical biology · 2026Article
- Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.Clinical genetics · 2026Article
- Article
- The impact of psuedouridine modification on human tRNA.Biochemical Society transactions · 2026Review
- Trub1-mediated pseudouridylation is dispensable for immune cell development and homeostasis.Genes and immunity · 2026Article
- Quantitative analysis of small RNA pseudouridylation reveals interplay of PUS enzymes in tRNA anticodon stem-loop.Nature communications · 2026Article
- Mechanistic insight into the pseudouridylation of RNA.RNA biology · 2025Review
- tRNA modifications: greasing the wheels of translation and beyond.RNA biology · 2025Review
- A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases.Nature cell biology · 2025Article
- Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications.Nucleic acids research · 2025Article
- Nano-Mod-Amp reveals RNA sequence, structural and cell type specific features of pseudouridylation by PUS7.bioRxiv : the preprint server for biology · 2025Article
- PUS7-dependent Ψ reshapes specific synaptic gene exons to facilitate fear extinction memory formation.Molecular brain · 2025Article
- Review
- Functions and therapeutic applications of pseudouridylation.Nature reviews. Molecular cell biology · 2025Review
- PUS7 promotes the progression of pancreatic cancer by interacting ANLN to activate MYC pathway.Molecular and cellular biochemistry · 2025Article
- The importance of physiological and disease contexts in capturing mRNA modifications.Nature structural & molecular biology · 2025Review
- Genome-wide association study on chronic postsurgical pain after abdominal surgeries in the UK Biobank.Anaesthesia · 2025Article
- Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives.Clinical and translational medicine · 2025Review
- RNA modifications and their role in gene expression.Frontiers in molecular biosciences · 2025Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
Abstract
Pseudouridylation is the most common post-transcriptional modification, wherein uridine is isomerized into 5-ribosyluracil (pseudouridine, Ψ). The resulting increase in base stacking and creation of additional hydrogen bonds are thought to enhance RNA stability. Pseudouridine synthases are encoded in humans by 13 genes, two of which are linked to Mendelian diseases: PUS1 and PUS3. Very recently, PUS7 mutations were reported to cause intellectual disability with growth retardation. We describe two families in which two different homozygous PUS7 mutations (missense and frameshift deletion) segregate with a phenotype comprising intellectual disability and progressive microcephaly. Short stature and hearing loss were variable in these patients. Functional characterization of the two mutations confirmed that both result in decreased levels of Ψ
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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.