Article
A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.
Disease models & mechanisms - 26 Jun 2020
Stanković Dimitrije, Claudius Ann-Katrin, Schertel Thomas, Bresser Tina, Uhlirova Mirka
Abstract excerpt
Retinitis pigmentosa (RP) represents genetically heterogeneous and clinically variable disease characterized by progressive degeneration of photoreceptors resulting in a gradual loss of vision. The autosomal dominant RP type 13 (RP13) has been linked to the malfunction of PRPF8, an essential component of the spliceosome. Over 20 different RP-associated PRPF8 mutations have been identified in human patients....
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