Although some causes of Angelman syndrome are not known, the most common cause is when the gene known as UBE3A is either missing or not working properly. A gene is a single unit of genetic ...

The underlying cause of AS is the lack of expression of the UBE3A gene, which is imprinted in neurons, meaning that only the maternal allele is active while the paternal allele is silenced.

Angelman syndrome results from mutations in the UBE3A gene on chromosome 15. This gene is crucial for brain development because it encodes a protein necessary for neuronal function. Normally ...

in the UBE3A gene inherited from the mother. The condition can also be caused by inheritance of two normal copies of UBE3A from the father, with no copy inherited from the mother. Other AS ...

Angelman syndrome is caused by several genetic mutations, but the most significant is loss of function in the maternally inherited form of the UBE3A gene, which leads to complications in the ...

This is one of 22 cutting-edge projects selected to share in a total of $8.1 million in grants raised through the Eagles ...

(MENAFN- PR Newswire) The team at UCLA is further developing this gene therapy approach in which a patient's own blood stem cells can be modified to add a healthy copy of the UBE3A gene that is ...

“GTX-102 demonstrates a paternal UBE3A gene targeting strategy can result in substantial clinical activity and in a more rapid time frame than we expected,” stated Dr. Scott Stromatt. “We better ...