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- Title
Neuroscience: Angelman syndrome connections.
- Authors
Scheiffele, Peter; Beg, Asim A.
- Abstract
The article examines the genetic causes of Angelman syndrome, a neurodevelopmental disorder marked by reduced intellect and epileptic seizures. According to the author, there have been evidences that disturbances in the ubiquitin protein ligase E3A (UBE3A) gene, the enzyme that controls levels of substrate proteins, results to the escalation of the syndrome. It also explains that the high neuronal levels of UBE3A substrate proteins distract brain development and cause neuronal dysfunction.
- Subjects
ANGELMAN syndrome; UBIQUITIN; NEURODEGENERATION; HUMAN chromosome 15 abnormalities; GENETIC disorders; GENETICS; DIAGNOSIS
- Publication
Nature, 2010, Vol 468, Issue 7326, p907
- ISSN
0028-0836
- Publication type
Article
- DOI
10.1038/468907a