Article
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
Human molecular genetics - 1 Jan 2016
Bruinsma Caroline F, Savelberg Sanne M C, Kool Martijn J, Jolfaei Mehrnoush Aghadavoud, Van Woerden Geeske M, Baarends Willy M, Elgersma Ype
Abstract excerpt
UBE2A deficiency syndrome (also known as X-linked intellectual disability type Nascimento) is an intellectual disability syndrome characterized by prominent dysmorphic features, impaired speech and often epilepsy. The syndrome is caused by Xq24 deletions encompassing the UBE2A (HR6A) gene or by intragenic UBE2A mutations. UBE2A encodes an E2 ubiquitin-conjugating enzyme involved in DNA repair and female...
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