| RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
Georgiou M, Robson AG, Uwaydat SH, Ji MH, Shakarchi AF, Pontikos N, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M., Free PMC Article | 04/26/2024 |
| A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report. | A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report.
Mansouri N, Darabi P, Favaedi M, Faizmahdavi H, Nankali S, Assefi M, Sharafshah A, Omarmeli V., Free PMC Article | 12/20/2023 |
| Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations. | Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Kuruvilla SE, Song E, Raoof N, van Bysterveldt K, Oliver VF, Hong SC, Al-Taie R, Wilson G, Vincent AL. | 06/16/2023 |
| Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. | Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials.
Khrenova MG, Bulavko ES, Mulashkin FD, Nemukhin AV., Free PMC Article | 07/17/2021 |
| RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. | RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K, Japan Eye Genetics Consortium Study Group. | 06/5/2021 |
| Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. | Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Toulis V, Cortés-González V, Castro-Miró M, Sallum JF, Català-Mora J, Villanueva-Mendoza C, Ciccioli M, Gonzàlez-Duarte R, Valero R, Marfany G., Free PMC Article | 03/27/2021 |
| We utilized a structure-based approach to pinpoint the binding interface to a strictly conserved cluster of residues on the surface of RP2 that spans both the C- and N-terminal domains of the protein, and which is structurally distinct from the ARL3-binding site.RP2 is a positive regulator of cell motility in vitro, recruiting OSTF1 to the cell membrane and preventing its interaction with the migration regulator Myo1E. | Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.
Lyraki R, Lokaj M, Soares DC, Little A, Vermeren M, Marsh JA, Wittinghofer A, Hurd T., Free PMC Article | 09/7/2019 |
| Data identified a novel RP2 missense mutation Q158P in a Chinese family with X-linked retinitis pigmentosa (XLRP). RP2 Q158P located in the TBCC domain and destabilized RP2 protein in ARPE-19 cells. | A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J, Gao F, Du C, Wang J, Pi X, Guo W, Li J, Li H, Ma Y, Zhang W, Mu H, Hu Y, Cui X. | 06/29/2019 |
| four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families. Our study further expands the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of X-linked retinitis pigmentosa. | Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
Jiang J, Wu X, Shen D, Dong L, Jiao X, Hejtmancik JF, Li N., Free PMC Article | 11/10/2018 |
| 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 pattern dystrophy. | Pattern dystrophy in a female carrier of RP2 mutation.
Misky D, Guillaumie T, Baudoin C, Bocquet B, Beltran M, Kaplan J, Dhaenens CM, Bonnefont JP, Meunier I, Hamel CP. | 11/18/2017 |
| 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 | ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment.
Wright ZC, Singh RK, Alpino R, Goldberg AF, Sokolov M, Ramamurthy V., Free PMC Article | 07/29/2017 |
| Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or retinitis pigmentosa 2 protein (RP2) genes. | Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Lyraki R, Megaw R, Hurd T. | 07/15/2017 |
| study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability. | Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F, Qin Y, Yu S, Soares DC, Yang L, Weng J, Li C, Gao M, Lu Z, Hu X, Liu X, Jiang T, Liu JY, Shu X, Tang Z, Liu M., Free PMC Article | 04/29/2017 |
| 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 gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene | Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E. | 04/1/2017 |
| 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. | Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa.
Lim H, Park YM, Lee JK, Taek Lim H. | 03/4/2017 |
| Three mutations were identified in the ORF15 exon of RPGR. 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 | Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
Haddad MF, Khabour OF, Abuzaideh KA, Shihadeh W. | 02/18/2017 |
| seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis | Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C., Free PMC Article | 12/17/2016 |
| The ability of the restored RP2 protein level to reverse the observed cellular phenotypes in cells lacking RP2 indicates that translational read-through could be clinically beneficial for patients. | Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
Schwarz N, Carr AJ, Lane A, Moeller F, Chen LL, Aguilà M, Nommiste B, Muthiah MN, Kanuga N, Wolfrum U, Nagel-Wolfrum K, da Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ., Free PMC Article | 09/26/2015 |
| 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. | Lipid Selectivity, Orientation, and Extent of Membrane Binding of Nonacylated RP2.
Demers É, Boisselier É, Horchani H, Blaudez D, Calvez P, Cantin L, Belley N, Champagne S, Desbat B, Salesse C. | 07/4/2015 |
| The methylation state of CpG sites close to the RP2 core promoter (GAAA)n repeat serves as a proxy measurement of X-chromosome inactivation in human and non-human primates. | 5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.
Machado FB, Machado FB, Faria MA, Lovatel VL, Alves da Silva AF, Radic CP, De Brasi CD, Rios ÁF, de Sousa Lopes SM, da Silveira LS, Ruiz-Miranda CR, Ramos ES, Medina-Acosta E., Free PMC Article | 08/11/2014 |
| A novel frameshift mutation in RP2 was detected. This mutation was located in exon 2 of the RP2 gene: a nucleotide C was inserted at 111 (c.111insC, Fig. 1A), which caused a protein translation frameshift | A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family.
De Lin W, Wang CH, Chou IC, Tsai FJ. | 08/9/2014 |
| Direct sequencing of RPGR and RP2 allowed for identification of a disease-causing mutation in 21 families. Of these "adRP" families 19 had RPGR mutations, and two had RP2 mutations. | Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP., Free PMC Article | 04/13/2013 |
| Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration. | Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A., Free PMC Article | 02/16/2013 |
| data support a role for RP2 in facilitating the membrane association and traffic of Gbeta1, potentially prior to the formation of the obligate Gbeta:Ggamma heterodimer; combined with other recent evidence, this suggests that RP2 may co-operate with Arl3 and its effectors in the cilia-associated traffic of G proteins | The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
Schwarz N, Novoselova TV, Wait R, Hardcastle AJ, Cheetham ME. | 11/24/2012 |
| The localization of RP2 to basal bodies and cilia in photoreceptors and kidney cells has linked RP2 dysfunction with ciliopathies. | The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function.
Schwarz N, Hardcastle AJ, Cheetham ME. | 04/14/2012 |