Associated Papers
PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.
Zimmann F et al.
Scientific Reports, 2026
PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.
Sun X et al.
Investigative Ophthalmology & Visual Science, 2026
Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.
Banik P et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.
Zimmann F et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.
Krausová M et al.
Life Science Alliance, 2023
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 2021
The Role of the U5 snRNP in Genetic Disorders and Cancer.
Wood KA et al.
Frontiers in Genetics, 2021
A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.
Stanković D et al.
Disease Models & Mechanisms, 2020
Variants in the PRPF8 Gene are Associated with Glaucoma.
Micheal S et al.
Molecular Neurobiology, 2018
Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.
Malinová A et al.
The Journal of Cell Biology, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.
Mozaffari-Jovin S et al.
Rna Biology, 2014
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Towns KV et al.
Human Mutation, 2010
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