Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
(2018)
Journal Article
Buskin, A., Zhu, L., Chichagova, V., Basu, B., Mozaffari-Jovin, S., Dolan, D., Droop, A., Collin, J., Bronstein, R., Mehrotra, S., Farkas, M., Hilgen, G., White, K., Pan, K.-T., Treumann, A., Hallam, D., Bialas, K., Chung, G., Mellough, C., Ding, Y., …Lako, M. (2018). Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9(1), Article 4234. https://doi.org/10.1038/s41467-018-06448-y
Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease. Here, we generate transcriptome profiles from RP... Read More about Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.