Article
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).
Human molecular genetics - 15 Nov 2010
Tam Lawrence C S, Kiang Anna-Sophia, Campbell Matthew, Keaney James, Farrar G Jane, Humphries Marian M, Kenna Paul F, Humphries Pete
Abstract excerpt
Retinitis pigmentosa (RP) is the most prevalent cause of registered visual handicap among working aged populations of developed countries. Up to 40% of autosomal dominant cases of disease are caused by mutations within the rhodopsin, RDS-peripherin and inosine 5'-monophosphate dehydrogenase type 1 (IMPDH1) genes, at least 30 mutations within which give rise to proteins that cause disease pathology by misfolding...
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