Angelman syndrome: a review of the clinical and genetic aspects

By J. Clayton-Smith, L. Laan. Journal of Medical Genetics, 2003

623 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health

View Paper: https://www.semanticscholar.org/paper/defd0214b6b1410ec7c89276ee17a22214792749

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In Molecular Biology

1. Aaron Ciechanover
2. M. Glickman
3. A. Goldberg

Citations in the corpus

• The Angelman Syndrome-associated ubiquitin ligase Ube3A regulates synapse development by ubiquitinating Arc (2010, neutral): “Genetic studies revealed that AS is associated with maternal deletions of chromosome 15q11-q13, paternal chromosome 15 uniparental disomy, or rare imprinting defects that affect the transcription of genes within 15q11-q13 (Clayton-Smith and Laan, 2003).”
• Angelman syndrome 2005: Updated consensus for diagnostic criteria (2006, background): “2-q13; paternal UPD; diagnosis; criteria; behavioral phenotype; EEG”
• The ubiquitin-proteasome proteolytic pathway: destruction for the sake of construction. (2002, background): “A defect in the gene coding for the E3 ligase E6-AP has been implicated directly as the cause of Angelman syndrome characterized by mental retardation, seizures, out of context frequent smiling and laughter, and abnormal gait (229, 251).”