ArticleNature chemical biology2019
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
Article in Nature chemical biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
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- Ubiquitin E3 ligases in the plant Arg/N-degron pathway.The Biochemical journal · 2024Review
- Structure of the human Bre1 complex bound to the nucleosome.Nature communications · 2024Article
- UBE2A and UBE2B are recruited by an atypical E3 ligase module in UBR4.Nature structural & molecular biology · 2024Article
- Circadian clock crosstalks with autism.Brain and behavior · 2023Article
- SP1 transcriptionally regulates UBE2N expression to promote lung adenocarcinoma progression.Molecular biomedicine · 2023Article
- Sex differences in the intergenerational link between maternal and neonatal whole blood DNA methylation: a genome-wide analysis in 2 birth cohorts.Clinical epigenetics · 2023Article
- Structure and functional determinants of Rad6-Bre1 subunits in the histone H2B ubiquitin-conjugating complex.Nucleic acids research · 2023Article
- Redox-sensitive E2 Rad6 controls cellular response to oxidative stress via K63-linked ubiquitination of ribosomes.Cell reports · 2022Article
- Altered pathways and targeted therapy in double hit lymphoma.Journal of hematology & oncology · 2022Review
- Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.Frontiers in pediatrics · 2022Article
- Cracking the Monoubiquitin Code of Genetic Diseases.International journal of molecular sciences · 2020Review
- Structural basis of generic versus specific E2-RING E3 interactions in protein ubiquitination.Protein science : a publication of the Protein Society · 2019Review
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13 authors at 4 institutions in 2 countries.
Funding
Abstract
Ubiquitin-conjugating enzymes (E2) enable protein ubiquitination by conjugating ubiquitin to their catalytic cysteine for subsequent transfer to a target lysine side chain. Deprotonation of the incoming lysine enables its nucleophilicity, but determinants of lysine activation remain poorly understood. We report a novel pathogenic mutation in the E2 UBE2A, identified in two brothers with mild intellectual disability. The pathogenic Q93E mutation yields UBE2A with impaired aminolysis activity but no loss of the ability to be conjugated with ubiquitin. Importantly, the low intrinsic reactivity of UBE2A Q93E was not overcome by a cognate ubiquitin E3 ligase, RAD18, with the UBE2A target PCNA. However, UBE2A Q93E was reactive at high pH or with a low-pK
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