| Results from whole-exome sequencing identified 2 variants c.1345C > G (p.R449G) and c.1532A > C (p.H511P) in PRPF3 which co-segregate with retinitis pigmentosa in two families respectively. | Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
Zhong Z, Yan M, Sun W, Wu Z, Han L, Zhou Z, Zheng F, Chen J., Free PMC Article | 06/2/2018 |
| SUMO conjugation plays a role during mRNA splicing processes including a role for Prp3 SUMOylation in U4/U6*U5 tri-snRNP formation and/or recruitment. | SUMO conjugation to spliceosomal proteins is required for efficient pre-mRNA splicing.
Pozzi B, Bragado L, Will CL, Mammi P, Risso G, Urlaub H, Lührmann R, Srebrow A., Free PMC Article | 11/11/2017 |
| RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Mutant PRPF3 proteins stably associated with tri-snRNPs. | PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C., Free PMC Article | 08/27/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| A mutation in the PRPF3 gene is rare compared to other genes causing autosomal dominant retinitis pigmentosa. | Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL., Free PMC Article | 05/31/2010 |
| These data support the notion about individual roles for CK2alpha and CK2alpha' in the splicing process. | Contribution of the individual subunits of protein kinase CK2 and of hPrp3p to the splicing process.
Dörr J, Kartarius S, Götz C, Montenarh M. | 01/21/2010 |
| U2AF35 and hPrp3 interactions with SPF30 can occur simultaneously, thereby potentially linking 3' splice site recognition with tri-small nuclear ribonucleoprotein addition | Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3.
Little JT, Jurica MS. | 01/21/2010 |
| splicing activity is significantly influenced by the CK2-hPrp3p interaction | Protein kinase CK2 interacts with the splicing factor hPrp3p.
Lehnert S, Götz C, Kartarius S, Schäfer B, Montenarh M. | 01/21/2010 |
| TASP1, EPS15R, and PRPF3 expression were significantly induced in HCCs of transgenic EGF2B mice as was P2 promoter-driven HNF4alpha | EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas.
Niehof M, Borlak J. | 01/21/2010 |
| Findings suggest that the loss of Hprp3p phosphorylation at Thr494 is a key step for initiating Thr494Met aberrant interactions within U4/U6 snRNP complex and these are likely linked to the retinitis pigmentosa type 18 phenotype. | Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
Gonzalez-Santos JM, Cao H, Duan RC, Hu J., Free PMC Article | 01/21/2010 |
| splicing factor PRPF3 mutations cause retinal degeneration and form detrimental aggregates in photoreceptor cells | Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.
Comitato A, Spampanato C, Chakarova C, Sanges D, Bhattacharya SS, Marigo V. | 01/21/2010 |
| We conclude that the Thr494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan | Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene.
Wada Y, Itabashi T, Sato H, Tamai M. | 01/21/2010 |
| Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. | Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS, Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. | 01/21/2010 |
| Free and complexed cyclophilin H have virtually identical conformations suggesting that the U4/U6-60K binding site is pre-shaped and the peptidyl-prolyl-cis/trans isomerase activity is unaffected by complex formation | Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide.
Reidt U, Wahl MC, Fasshauer D, Horowitz DS, Lührmann R, Ficner R. | 01/21/2010 |
| role in the recruitment of Hprp4p for the U4/U6 snRNP assembly | Central region of the human splicing factor Hprp3p interacts with Hprp4p.
Gonzalez-Santos JM, Wang A, Jones J, Ushida C, Liu J, Hu J. | 01/21/2010 |
| PAP-1 interacted with Prp3p but not Prp31p in human cells and yeast, and the basic region of PAP-1 and the C-terminal region of Prp3p, regions beside spots found in retinitis pigmentosa mutations, were needed for binding | Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex.
Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM. | 01/21/2010 |
| Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. | Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M. | 01/21/2010 |
| The human HPRP3 gene, the orthologue of the yeast pre-mRNA splicing factor (PRP3) | Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS, Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. | 12/15/2003 |