ArticleEuropean journal of human genetics : EJHG2008
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
Article in European journal of human genetics : EJHG, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)Autophagy · 2021Guideline
- Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).Autophagy · 2016Guideline
- A genomic study of trichotillomania and excoriation disorder in families.Translational psychiatry · 2026Article
- The fourspine stickleback (Apeltes quadracus) has an XY sex chromosome system with polymorphic inversions on both X and Y chromosomes.PLoS genetics · 2025Article
- Therapeutic potential of TRIM family proteins in gastric cancer: from signaling pathway regulation to precision targeting strategies.Frontiers in oncology · 2025Review
- Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.International journal of molecular sciences · 2024Article
- TRIM50 inhibits glycolysis and the malignant progression of gastric cancer by ubiquitinating PGK1.International journal of biological sciences · 2024Article
- TRIM50 promotes NLRP3 inflammasome activation by directly inducing NLRP3 oligomerization.EMBO reports · 2022Article
- The genomic and transcriptome characteristics of lung adenocarcinoma patients with previous breast cancer.BMC cancer · 2022Article
- TRIM50 Inhibits Proliferation and Metastasis of Gastric Cancer via PromotingJournal of oncology · 2022Article
- Targeting TRIM Proteins: A Quest towards Drugging an Emerging Protein Class.Chembiochem : a European journal of chemical biology · 2021Review
- Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.Frontiers in molecular neuroscience · 2021Review
- TRIM50 Suppresses Pancreatic Cancer Progression and Reverses the Epithelial-Mesenchymal TransitionFrontiers in oncology · 2021Article
- Article
- Powerful and efficient SNP-set association tests across multiple phenotypes using GWAS summary data.Bioinformatics (Oxford, England) · 2019Article
- Activity of Genes with Functions in Human Williams-Beuren Syndrome Is Impacted by Mobile Element Insertions in the Gray Wolf Genome.Genome biology and evolution · 2018Article
- TRIM50 suppressed hepatocarcinoma progression through directly targeting SNAIL for ubiquitous degradation.Cell death & disease · 2018Article
- Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.Molecular neurobiology · 2017Article
- E3 Ubiquitin Ligases Neurobiological Mechanisms: Development to Degeneration.Frontiers in molecular neuroscience · 2017Review
- Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.Molecular syndromology · 2016Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
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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.