Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
DISEASE(S): Angelman Syndrome
SUBMITTER: Florian Stengel
LAB HEAD: Prof. Dr. Florian Stengel
PROVIDER: PXD020602 | Pride | 2020-09-28
REPOSITORIES: Pride
Items per page: 1 - 5 of 430 |
Cell chemical biology 20200922 12
Genetic aberrations of the UBE3A gene encoding the E3 ubiquitin ligase E6AP underlie the development of Angelman syndrome (AS). Approximately 10% of AS individuals harbor UBE3A genes with point mutations, frequently resulting in the expression of full-length E6AP variants with defective E3 activity. Since E6AP exists in two states, an inactive and an active one, we hypothesized that distinct small molecules can stabilize the active state and that such molecules may rescue the E3 activity of AS-d ...[more]