Why Do Mutations in the Ubiquitously Expressed Housekeeping Gene<i>IMPDH1</i>Cause Retina-Specific Photoreceptor Degeneration?

Abstract excerpt

PURPOSE: The purpose of this study was to investigate retinal inosine monophosphate dehydrogenase 1 (IMPDH1) transcripts and proteins to gain an understanding of how mutations in IMPDH1 lead to retinal disease. Mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP) and are a rare cause of dominant Leber congenital amaurosis (LCA). IMPDH1 is a highly conserved, widely expressed...

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