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RP2 (show NUDT19 Antibodies) mutation would have a moderate pathogenic effect in photoreceptors carrying the mutation, causing abnormal outer segments, with the accumulation of lipofuscin similar to RDS/PRPH2 (show PRPH2 Antibodies) pattern dystrophy.
this study identifies ARL3 as a key player in prenylated protein trafficking in rod photoreceptor cells and establishes the potential role for ARL3 dysregulation in the pathogenesis of RP2 (show NUDT19 Antibodies)-related forms of XLRP
Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR (show RPGR Antibodies)) or retinitis pigmentosa 2 protein (RP2 (show NUDT19 Antibodies)) genes.
study also reveals a role of the C-terminal domain of RP2 (show NUDT19 Antibodies) in maintaining the overall protein stability.
Three XLRP families (RP-001, RP-002, and RP-003), composed of 13 individuals, were reported in this study, and 2 different mutations were detcted We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR (show RPGR Antibodies) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 (show NUDT19 Antibodies) gene
We identified a novel causative mutation in RP2 (show NUDT19 Antibodies) from a single proband's exome sequence data analysis. This study highlights the effectiveness of the whole-exome sequencing in the genetic diagnosis of X-linked retinitis pigmentosa, over the conventional sequencing methods.
Three mutations were identified in the ORF15 (show RPGR Antibodies) exon of RPGR (show RPGR Antibodies). No RP2 (show NUDT19 Antibodies) mutations were found among the examined families. Mutation screening of RP patients is essential to understand the mechanism behind this disease and develop treatments
seven out of 27 families, displaying mutations in the ABCA4 (show ABCA4 Antibodies), RP1 (show STK19 Antibodies), RP2 (show NUDT19 Antibodies) and USH2A (show USH2A Antibodies) genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis
The ability of the restored RP2 protein (show P2RX1 Antibodies) level to reverse the observed cellular phenotypes in cells lacking RP2 (show NUDT19 Antibodies) indicates that translational read-through could be clinically beneficial for patients.
ellipsometric measurements of naRP2 demonstrated that its particular affinity for saturated phospholipids can be explained by its larger extent of insertion in this phospholipid monolayer compared to that in polyunsaturated phospholipid monolayers.
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death
, retinitis pigmentosa 2 homolog
, retinitis pigmentosa 2 (X-linked recessive)