Article
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration.
Scientific reports - 31 Aug 2017
Plaas Mario, Seppa Kadri, Reimets Riin, Jagomäe Toomas, Toots Maarja, Koppel Tuuliki, Vallisoo Tuuli, Nigul Mait, Heinla Indrek, Meier Riho, Kaasik Allen, Piirsoo Andres, Hickey Miriam A, Terasmaa Anton, Vasar Eero
Abstract excerpt
Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing loss and a number of other complications. Here, we describe the creation and phenotype of Wfs1 mutant rats, in which exon 5 of the Wfs1 gene is deleted, resulting in a loss of 27 amino acids from the WFS1 protein sequence. These...
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