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 is a neurogenetic disorder caused by abnormalities in chromosome 15, specifically involving the UBE3A gene. This gene is essential in brain development and function. People with ...

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 ...

(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 ...

Dec. 10, 2024 — In a single IV injection, a gene therapy targeting cBIN1 can reverse the effects of heart failure and restore heart function in a large animal model. The therapy increases the ...

AUSTIN, Texas, Jan. 30, 2025 /PRNewswire/ -- Dr. Roger Hollis from the University of California, Los Angeles, project scientist from the laboratory of Dr. Donald Kohn, a world leader in ...

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

Gene regulation refers to the mechanisms that act to induce or repress the expression of a gene. These include structural and chemical changes to the genetic material, binding of proteins to ...