Associated Papers
The role of splicing factors in retinitis pigmentosa: links to cilia.
Maxwell DW et al.
Biochemical Society Transactions, 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
Functional Assessment of Patient-Derived Retinal Pigment Epithelial Cells Edited by CRISPR/Cas9.
Foltz LP et al.
International Journal of Molecular Sciences, 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
Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.
Mozaffari-Jovin S et al.
Rna Biology, 2014
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Towns KV et al.
Human Mutation, 2010
Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
Pena V et al.
Molecular Cell, 2007
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Ziviello C et al.
Journal of Medical Genetics, 2005
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
McKie AB et al.
Human Molecular Genetics, 2001
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