July 2011 - Ben Philpot and postdoctoral fellows Angela Mabb and Matthew Judson have written a commentary titled "Insights for autism from Angelman syndrome" for the Simons Foundation Autism Research Initiative (SFARI) on the function of the UBE3A gene and the connections between autism and Angelman syndrome.
"The word 'autism' has unfortunately entered our common lexicon, but few people have heard of Angelman syndrome, a closely linked disorder that is also accompanied by deficits in cognition and language. Autism is frequently diagnosed in individuals with Angelman syndrome.
Angelman syndrome also shares a common genetic basis with some forms of autism: disruption in the number of copies of the UBE3A gene. Studying the effects of altered UBE3A gene dosage is likely to provide insight into brain defects associated with Angelman syndrome and autism, and to suggest targets for therapies." Read more >>