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study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability.
maternal rp2 mRNA is essential for successful embryonic development and thus contributes to egg developmental competence
Knockout of RP2 decreases GRK1 (zeige GRK1 ELISA Kits) and rod transducin (zeige GNAT1 ELISA Kits) subunits and leads to photoreceptor degeneration in zebrafish
Results suggest that RP2 plays a key role in photoreceptor development and maintenance in zebrafish
Zebrafish RP2 is widely expressed throughout development. ZFRP2 knockdown caused retinal degeneration in zebrafish.
RP2 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 (zeige PRPH2 ELISA Kits) 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-related forms of XLRP
Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR (zeige RPGR ELISA Kits)) or retinitis pigmentosa 2 protein (RP2) genes.
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 (zeige RPGR ELISA Kits) gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene
We identified a novel causative mutation in RP2 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 (zeige RPGR ELISA Kits) exon of RPGR (zeige RPGR ELISA Kits). No RP2 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 (zeige ABCA4 ELISA Kits), RP1 (zeige STK19 ELISA Kits), RP2 and USH2A (zeige USH2A ELISA Kits) 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 (zeige P2RX1 ELISA Kits) level to reverse the observed cellular phenotypes in cells lacking RP2 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.
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-related forms of X-linked retinitis pigmentosa
RP2 has a role in cone photoreceptor sensory cilium elongation in mice
we first performed detailed characterization of the Rp2-knockout (Rp2-KO) mice and observed early-onset cone dysfunction
Our studies suggest that RP2 contributes to the maintenance of photoreceptor function and that cone opsin (zeige RHO ELISA Kits) mislocalization represents an early step in XLRP caused by RP2 mutations.
We propose that RP2 regulation of Arl3 is important for maintaining Golgi cohesion, facilitating the transport and docking of vesicles and thereby carrying proteins to the base of the photoreceptor connecting cilium for transport to the outer segment.
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 (X-linked recessive)
, XRP2 protein
, XRP2-like protein
, protein XRP2-like
, retinitis pigmentosa 2 homolog