ArticleAmerican journal of human genetics1998
Mutation analysis of UBE3A in Angelman syndrome patients.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 218 citations in OpenAlex.
- UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.Molecular psychiatry · 2026Article
- Molecular aspects of Angelman Syndrome: Defining the new path forward.Biomolecules & biomedicine · 2025Review
- Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.World journal of clinical cases · 2024Article
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.Diseases (Basel, Switzerland) · 2023Review
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.Nature communications · 2021Article
- Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.Human molecular genetics · 2021Article
- A proteasomal partner goes missing in Angelman syndrome.The Journal of biological chemistry · 2018Article
- Angelman syndrome-associated point mutations in the ZnThe Journal of biological chemistry · 2018Article
- Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.Frontiers in molecular neuroscience · 2018Review
- UBE3A and Its Link With Autism.Frontiers in molecular neuroscience · 2018Review
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- Angelman syndrome - insights into a rare neurogenetic disorder.Nature reviews. Neurology · 2016Review
- The Antisense Transcriptome and the Human Brain.Journal of molecular neuroscience : MN · 2016Review
- Article
- Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome.Cell death & disease · 2015Article
- The role of epigenetics in personalized medicine: challenges and opportunities.BMC medical genomics · 2015Review
- Angelman syndrome: review of clinical and molecular aspects.The application of clinical genetics · 2014Review
- 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.BMC medical genetics · 2012Article
- Molecular and Clinical Aspects of Angelman Syndrome.Molecular syndromology · 2012Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene. UBE3A encodes a ubiquitin-protein ligase and shows brain-specific imprinting. Here we describe UBE3A coding-region mutations detected by SSCP analysis in 13 AS individuals or families. Two identical de novo 5-bp duplications in exon 16 were found. Among the other 11 unique mutations, 8 were small deletions or insertions predicted to cause frameshifts, 1 was a mutation to a stop codon, 1 was a missense mutation, and 1 was predicted to cause insertion of an isoleucine in the hect domain of the UBE3A protein, which functions in E2 binding and ubiquitin transfer. Eight of the cases were familial, and five were sporadic. In two familial cases and one sporadic case, mosaicism for UBE3A mutations was detected: in the mother of three AS sons, in the maternal grandfather of two AS first cousins, and in the mother of an AS daughter. The frequencies with which we detected mutations were 5 (14%) of 35 in sporadic cases and 8 (80%) of 10 in familial cases.
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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.