Article
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
Human molecular genetics - 15 Jul 2008
Tam Lawrence C S, Kiang Anna-Sophia, Kennan Avril, Kenna Paul F, Chadderton Naomi, Ader Marius, Palfi Arpad, Aherne Aileen, Ayuso Carmen, Campbell Matthew, Reynolds Alison, McKee Alex, Humphries Marian M, Farrar G Jane, Humphries Pete
Abstract excerpt
Mutations within the inosine 5'-monophosphate dehydrogenase 1 (IMPDH1) gene cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP), an early-onset retinopathy resulting in extensive visual handicap owing to progressive death of photoreceptors. Apart from the prevalence of RP10, estimated to account for 5-10% of cases of adRP in United States and Europe, two observations render this form of RP an...
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