Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity

Retinitis pigmentosa (RP) is a hereditary disease affecting tens of thousands of people world-wide. Here we analyzed the effect of an amino acid substitution in the RNA helicase DHX38 (Prp16) causing RP. DHX38 has been proposed as the helicase important for the 2(nd) step of splicing. We showed that...

Descripción completa

Detalles Bibliográficos
Autores principales: Obuća, Mina, Cvačková, Zuzana, Kubovčiak, Jan, Kolář, Michal, Staněk, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8985939/
https://www.ncbi.nlm.nih.gov/pubmed/35385551
http://dx.doi.org/10.1371/journal.pone.0265742

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8985939/
https://www.ncbi.nlm.nih.gov/pubmed/35385551
http://dx.doi.org/10.1371/journal.pone.0265742

Ejemplares similares