ArticleMolecular genetics and metabolism2022
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Article in Molecular genetics and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 13 papers.
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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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- PUS7 mRNA pseudouridylation is driven by RNA sequence, structure, and cell-type-specific features.Cell genomics · 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
- Pseudouridine synthase 7 as a context-specific therapeutic target in cancer.The Journal of pharmacology and experimental therapeutics · 2026Review
- Mechanistic insight into the pseudouridylation of RNA.RNA biology · 2025Review
- Nano-Mod-Amp reveals RNA sequence, structural and cell type specific features of pseudouridylation by PUS7.bioRxiv : the preprint server for biology · 2025Article
- Genetic Profiling of Polymicrogyria in a South Indian Cohort.Annals of Indian Academy of Neurology · 2025Article
- Why U matters: detection and functions of pseudouridine modifications in mRNAs.Trends in biochemical sciences · 2024Review
- The importance of pseudouridylation: human disorders related to the fifth nucleoside.Biologia futura · 2023Review
- Epitranscriptomic regulation of cortical neurogenesis via Mettl8-dependent mitochondrial tRNA mCell stem cell · 2023Article
- Role of the DUB enzyme USP7 in dendritic arborization, neuronal migration, and autistic-like behaviors in mice.iScience · 2022Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Protein translation is a highly regulated process involving the interaction of numerous genes on every component of the protein translation machinery. Upregulated protein translation is a hallmark of cancer and is implicated in autism spectrum disorder, but the risks of developing each disease do not appear to be correlated with one another. In this study we identified two siblings from the NIH Undiagnosed Diseases Program with loss of function variants in PUS7, a gene previously implicated in the regulation of total protein translation. These patients exhibited a neurodevelopmental phenotype including autism spectrum disorder in the proband. Both patients also had features of Lesch-Nyhan syndrome, including hyperuricemia and self-injurious behavior, but without pathogenic variants in HPRT1. Patient fibroblasts demonstrated upregulation of protein synthesis, including elevated MYC protein, but did not exhibit increased rates of cell proliferation. Interestingly, the dysregulation of protein translation also resulted in mildly decreased levels of HPRT1 protein suggesting an association between dysregulated protein translation and the LNS-like phenotypic findings. These findings strengthen the correlation between neurodevelopmental disease, particularly autism spectrum disorders, and the rate of protein translation.
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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.