Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells

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 varian...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10078954/
https://www.ncbi.nlm.nih.gov/pubmed/37019475
http://dx.doi.org/10.26508/lsa.202201855

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10078954/
https://www.ncbi.nlm.nih.gov/pubmed/37019475
http://dx.doi.org/10.26508/lsa.202201855

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