Article
Wolfram syndrome: new mutations, different phenotype.
PloS one - 1 Jan 2012
Aloi Concetta, Salina Alessandro, Pasquali Lorenzo, Lugani Francesca, Perri Katia, Russo Chiara, Tallone Ramona, Ghiggeri Gian Marco, Lorini Renata, d'Annunzio Giuseppe
Abstract excerpt
BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare...
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