Article
A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 9 Dec 2014
Lu Simin, Kanekura Kohsuke, Hara Takashi, Mahadevan Jana, Spears Larry D, Oslowski Christine M, Martinez Rita, Yamazaki-Inoue Mayu, Toyoda Masashi, Neilson Amber, Blanner Patrick, Brown Cris M, Semenkovich Clay F, Marshall Bess A, Hershey Tamara, Umezawa Akihiro, Greer Peter A, Urano Fumihiko
Abstract excerpt
Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome and the identification of two causative genes, Wolfram syndrome 1 (WFS1) and Wolfram syndrome 2 (WFS2), a molecular mechanism linking the ER to death of neurons and β cells has not been elucidated....
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