disease 4,039 words KG: ent-dise-65c9254a 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Angelman Syndrome

Disease Info
Protein degradationAs an E3 ubiquitin ligase, UBE3A targets proteins for degradation via the ubiquitin-proteasome system
Synaptic functionInvolved in regulation of synaptic plasticity and neurotransmitter receptor trafficking
DNA repairRecent research suggests roles in DNA repair mechanisms within neurons
Mitochondrial functionEmerging evidence links UBE3A loss to mitochondrial dysfunction
DatabasesOMIMOrphanetClinicalTrialsPubMed

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