ea0058oc5.3 | Oral Communications 5 | BSPED2018
Costa Alexandra Rodrigues Da
, Qarin Shamma
, Bradshaw Teisha
, Watson David
, Prasad Rathi
, Metherell Louise A
, Barnes Michael R
, Skarnes William
, Chapple J Paul
, Storr Helen L
Triple A syndrome (AAAS) is a rare, incurable, homozygous disorder, characterised by tissue-specific degeneration resulting in adrenal failure and neurodisability. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADINs role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. The inte...