ea0051oc5.3 | Oral Communications 5 | BSPED2017
Da Costa Alexandra Rodrigues
, Meimaridou Eirini
, Prasad Rathi
, Metherell Louise A.
, Chapple J. Paul
, Storr Helen L.
Triple A syndrome (AAAS), a rare and debilitating autosomal recessive disorder. It is characterised by adrenal failure, alacrima and achalasia; ~70% patients develop a neurodegeneration. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for the selective nuclear import of DNA protective molecules and is important for cellular redox homeostasis. ALADINs role is not fully characterised: its discovery at the centrosome and the endoplasmic...