Nonsense-associated alternative splicing as a putative reno-protective mechanism in Pkhd1cyli/Pkhd1cyli mutant mice
Chaozhe Yang, Naoe Harafuji, Ljubica Caldovic, Weiying Yu, Ravindra Boddu, Surajit Bhattacharya, Hayk Barseghyan, Heather Gordish‐Dressman, Oded Foreman, Zsuzsanna M. Bebok, Eva M. Eicher, Lisa M. Guay‐Woodford
The paper identifies a frameshift mutation in Pkhd1 causing a cystic liver phenotype in mice and shows alternative splicing leads to reduced Pkhd1 protein levels and attenuated renal cystic disease.
Journal of Molecular Medicine · Aug 16, 2023Peer-reviewedGenetics