Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration
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Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-09392-x.pdf
Reference36 articles.
1. Wolfram, D. J. & Wagener, H. P. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clinic Proceedings 13, 715–718 (1938).
2. Strom, T. M. et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 7, 2021–2028 (1998).
3. Hardy, C. et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 65, 1279–1290, doi: 10.1086/302609 (1999).
4. Inoue, H. et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20, 143–148, doi: 10.1038/2441 (1998).
5. Philbrook, C., Fritz, E. & Weiher, H. Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp Gerontol 40, 671–678, doi: 10.1016/j.exger.2005.06.008 (2005).
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