Article
Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Life science alliance - 1 Jun 2023
Krausová Michaela, Kreplová Michaela, Banik Poulami, Cvačková Zuzana, Kubovčiak Jan, Modrák Martin, Zudová Dagmar, Lindovský Jiří, Kubik-Zahorodna Agnieszka, Pálková Marcela, Kolář Michal, Procházka Jan, Sedláček Radislav, Staněk David
Abstract excerpt
A subset of patients with retinitis pigmentosa (RP) carry mutations in several spliceosomal components including the PRPF8 protein. Here, we established two alleles of murine Prpf8 that genocopy or mimic aberrant PRPF8 found in RP patients-the substitution p.Tyr2334Asn and an extended protein variant p.Glu2331ValfsX15. Homozygous mice expressing the aberrant Prpf8 variants developed within the first 2 mo...
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