Article
Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins.
Archives of biochemistry and biophysics - 15 Apr 2008
Xu Dong, Cobb Garrett, Spellicy Catherine J, Bowne Sara J, Daiger Stephen P, Hedstrom Lizbeth
Abstract excerpt
The RP 10 form of autosomal dominant retinitis pigmentosa (adRP) is caused by mutations in the widely expressed protein inosine 5'-monophosphate dehydrogenase type 1 (IMPDH1). These mutations have no effect on the enzymatic activity of IMPDH1, but do perturb the association of IMPDH1 with nucleic acids. Two newly discovered retinal-specific isoforms, IMPDH1(546) and IMPDH1(595), may provide the key to the...
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