UBE3A regulates MC1R expression : a link to hypopigmentation in Angelman Syndrome

• Main Authors: Low, Daren., Chen, Ken-Shiung.
• Other Authors: School of Biological Sciences
• Format: Article
• Language: English
• Published: 2011
• Subjects: DRNTU::Science::Biological sciences::Molecular biology
• Online Access: https://hdl.handle.net/10356/94059; http://hdl.handle.net/10220/7171
• Institution: Nanyang Technological University

Angelman Syndrome (AS) is a neurogenetic disorder caused by the lack of functional ubiquitin-protein ligase E3A (UBE3A) that acts as an E3 ligase in the ubiquitin-proteosomal degradation pathway and/or as a transcriptional coactivator. Besides neurological deficit, hypopigmentation is another phenot...