ea0030oc4.4 | Oral Communications 4 | BSPED2012
Gharanei Seley
, Zatyka Malgorzata
, Astuti Dewi
, Fenton Janine
, Sik Attila
, Nagy Zsuzsanna
, Barrett Timothy
Wolfram syndrome is an autosomal recessive disorder characterised by neurodegeneration and diabetes mellitus. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER) resident transmembrane protein, that also localises to secretory granules in pancreatic β cells. Although its precise functions are unknown, WFS1 protein deficiency affects the unfolded protein response, intracellular ion homeostasis, cell cycle progression, and granular acidificati...