Affinage

PRPH2

Peripherin-2 · UniProt P23942

Length
346 aa
Mass
39.3 kDa
Annotated
2026-06-10
98 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PRPH2 (peripherin-2/RDS) is a photoreceptor tetraspanin that serves as a core structural building block of the outer segment disc rim, where it drives disc morphogenesis and enclosure (PMID:37991486). Its function depends on oligomerization with its homologue ROM1: higher-order, covalently-linked complexes formed through an intermolecular disulfide bond at PRPH2-C150/ROM1-C153 are essential for outer segment formation, and a C150S protein that can only form non-covalent tetramers traffics correctly but fails to support normal outer segment structure (PMID:29961824). The PRPH2 C-terminus is necessary and sufficient to initiate disc formation, while the tetraspanin body and large oligomers are required for maturation; ROM1 governs whether complexes reach the outer segment via conventional versus Golgi-bypass secretory routes (PMID:30307502). The PRPH2 and ROM1 tetraspanin bodies are functionally interchangeable for disc-rim assembly, with ROM1 loss triggering compensatory PRPH2 upregulation that can be substituted by PRPH2 overexpression (PMID:37991486). ROM1 also acts as a mutation-specific phenotypic modifier, shifting PRPH2 disease between cone-dominant and rod-dominant presentations and ameliorating or exacerbating function depending on the specific allele (PMID:28053051, PMID:32716032). Distinct disease mutations act through separable mechanisms — gain-of-function disruption of ROM1 oligomerization versus haploinsufficiency — and rods are highly sensitive to oligomerization defects whereas cones better tolerate reduced PRPH2 (PMID:31914632, PMID:37466729). PRPH2 expression is directly controlled by the nuclear receptor NR2E3, which binds the Prph2 locus and is required for normal Prph2 mRNA and protein levels and photoreceptor survival (PMID:18763016). Downstream of PRPH2 mutation, PARP overactivation is causally involved in photoreceptor death, and PARP inhibition protects rods and cones (PMID:28723922, PMID:40170065).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2008 High

    Established how Prph2 expression is transcriptionally controlled, linking a known retinal degeneration regulator to Prph2 and to photoreceptor survival.

    Evidence ChIP, qRT-PCR, immunoblot in Nr2e3(rd7/rd7) retinas plus an ENU-induced Prph2 splicing mutant phenocopy

    PMID:18763016

    Open questions at the time
    • Does not define co-regulators or the cis-element bound by NR2E3
    • Does not address how Prph2 dosage thresholds relate to survival
  2. 2016 High

    Resolved that PRPH2's structural and functional (signaling) roles are separable and that mutant effects differ between rods and cones, by showing K153Δ abolishes oligomeric complex formation and ROM1 interaction in cones.

    Evidence K153Δ-Prph2 knockin mouse with WT supplementation, ERG, EM, co-IP for ROM1

    PMID:27365499

    Open questions at the time
    • Molecular basis of the functional/signaling role distinct from structure not defined
    • Why WT supplementation rescues structure but not function unexplained
  3. 2017 High

    Demonstrated ROM1 is a disease modifier capable of converting a cone-dominant dystrophy into a rod-dominant RP phenotype for the Y141C allele, establishing ROM1 dosage as a determinant of disease class.

    Evidence Y141C-Prph2 knockin crossed to Rom1 knockout, in vitro ER-retention rescue, ERG, complex immunoblotting

    PMID:28053051

    Open questions at the time
    • Generality across other PRPH2 alleles not yet tested in this study
    • Structural nature of the abnormal Y141C/ROM1 complexes undefined
  4. 2017 Medium

    Identified PARP overactivation as an early, causal event in Prph2-mutant photoreceptor death, opening a mechanistic node downstream of the structural defect.

    Evidence rd2 mouse, PARP activity and poly-ADP-ribose assays, TUNEL, PJ34 inhibitor with temporal analysis

    PMID:28723922

    Open questions at the time
    • Single lab and single inhibitor
    • Link between disc structural defect and PARP activation not mechanistically traced
  5. 2018 High

    Defined the molecular requirement for covalent higher-order oligomerization in outer segment formation by pinpointing the C150 disulfide bond and showing cones require large covalent complexes more stringently than rods.

    Evidence C150S-Prph2 knockin mouse, ERG, EM, non-reducing SDS-PAGE, genetic crosses with WT and Y141C alleles

    PMID:29961824

    Open questions at the time
    • Higher-order complex architecture not structurally resolved
    • Mechanism by which cones require larger complexes than rods unknown
  6. 2019 High

    Mapped functional modularity within PRPH2, showing the C-terminus initiates disc formation while the body plus large oligomers drive maturation, and identified ROM1 as a determinant of secretory trafficking route.

    Evidence RRCT chimeric knockin mouse (Rom1 body + Prph2 C-terminus), ERG, IF, trafficking assays, Rom1-null crosses

    PMID:30307502

    Open questions at the time
    • Trafficking machinery for the Golgi-bypass route not identified
    • How the C-terminus mechanistically initiates disc formation undefined
  7. 2019 High

    Distinguished a gain-of-function mechanism for C213Y (disrupted ROM1 oligomerization with retained homotetramers) from haploinsufficiency caused by adjacent cysteine mutations, refining genotype-mechanism mapping.

    Evidence C213Y-Prph2 knockin mouse with WT transgenic supplementation, ERG, non-reducing SDS-PAGE

    PMID:31914632

    Open questions at the time
    • Why supplementation rescues structure but not function unexplained
    • Molecular nature of the toxic gain-of-function species not isolated
  8. 2020 High

    Showed ROM1 dosage modifies PRPH2 disease in a strictly mutation-specific manner — improving K153Δ, worsening R172W, neutral for C213Y — establishing that modifier effects cannot be generalized across alleles.

    Evidence Three Prph2 knockin models crossed with Rom1+/-, ERG, histology, oligomerization assays

    PMID:32716032

    Open questions at the time
    • Biochemical basis for opposite directionality across alleles not resolved
    • Predictive rules for which mutations benefit from ROM1 reduction lacking
  9. 2022 Medium

    Extended PRPH2 disease pathology to the RPE, showing mutation-specific impairment of phagocytosed outer-segment clearance and microglial activation as secondary stress mechanisms.

    Evidence Multiple Prph2 knockin models, RPE histology, phagocytosis clearance assay, microglial immunohistochemistry

    PMID:35344225

    Open questions at the time
    • Single lab
    • Causal chain from abnormal OS structure to RPE dysfunction correlative
  10. 2022 Medium

    Reported a physical interaction between PRPH2 and the splicing factor PRPF31, hinting at an interaction beyond the ROM1 axis.

    Evidence Directional co-IP (PRPF31 pulled down with anti-PRPH2) and IF co-localization in HEK293T, ARPE-19, and mouse retina

    PMID:36088804

    Open questions at the time
    • Single directional co-IP without reciprocal pulldown
    • No functional consequence of the interaction established
  11. 2023 High

    Demonstrated ROM1 and PRPH2 tetraspanin bodies are functionally interchangeable for disc-rim formation and that ROM1 loss is compensated by PRPH2 upregulation, clarifying their redundant structural roles.

    Evidence ROM1 knockout, PRPH2 overexpression rescue, PRPH2-body-replaced-by-ROM1-body knockin, EM, immunoblot quantification

    PMID:37991486

    Open questions at the time
    • Non-overlapping functions that explain why both genes are retained not defined
    • Mechanism of compensatory PRPH2 upregulation unknown
  12. 2023 High

    Consolidated the rod-versus-cone sensitivity principle across D2-loop cysteine mutants, providing a rationale for knockdown-based cone-preserving therapies.

    Evidence Three D2-loop cysteine knockin models (Y141C, C213Y, C150S), ERG, EM, non-reducing SDS-PAGE, IF

    PMID:37466729

    Open questions at the time
    • Cellular basis for differential rod/cone tolerance not mechanistically resolved
    • Therapeutic knockdown not yet demonstrated in vivo
  13. 2025 Medium

    Characterized a human splice-site mutation mechanism (cryptic splice activation and intron retention) and showed prime editing restores the canonical transcript, moving toward genetic correction.

    Evidence Prime editing in hiPSCs and hiPSC-derived retinal organoids, RT-PCR of splice products

    PMID:41210588

    Open questions at the time
    • Functional/structural rescue of disc morphogenesis not shown
    • Editing efficiency and off-target profile in photoreceptors not assessed
  14. 2025 Medium

    Extended PARP-targeted neuroprotection to cones and identified accompanying changes in oxidative stress, Müller cell activation, and extracellular vesicle accumulation.

    Evidence rd2 mouse, multiple PARP inhibitors, IHC (rhodopsin, GFAP, CD9), cone density, glutathione measurement

    PMID:40170065

    Open questions at the time
    • Single lab
    • Mechanistic link from PRPH2 dysfunction to PARP activation remains indirect

Open questions

Synthesis pass · forward-looking unresolved questions
  • The structural architecture of PRPH2/ROM1 higher-order complexes and the precise rules linking specific mutations and ROM1 dosage to opposite phenotypic outcomes remain unresolved.
  • No high-resolution structure of the disc-rim oligomer
  • No unifying biochemical model predicting allele-specific ROM1 modifier directionality
  • Mechanistic connection between disc structural defect and downstream PARP/RPE pathology unestablished

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3
Localization
GO:0005929 cilium 3
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-9709957 Sensory Perception 1
Partners
NR2E3PRPF31ROM1
Complex memberships
PRPH2/ROM1 disc-rim oligomer

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2018 Prph2/Rom1 higher-order covalent oligomerization, mediated by an intermolecular disulfide bond at Prph2-C150/Rom1-C153, is essential for photoreceptor outer segment formation. C150S-Prph2 forms non-covalent tetramers and traffics to the OS but cannot support normal OS structure and function alone. Cones require large covalently-linked Prph2 complexes more stringently than rods, with C150S heterozygous cones exhibiting a dominant-negative phenotype rather than haploinsufficiency. Knockin mouse (C150S-Prph2), electroretinography, electron microscopy, biochemical complex analysis (non-reducing SDS-PAGE), genetic crosses with WT and Y141C Prph2 alleles Human molecular genetics High 29961824
2019 The Prph2 C-terminus is necessary and sufficient for the initiation of outer segment (OS) disc formation, while OS maturation requires the body of Prph2 and associated large oligomers. Rom1 is a key determinant of whether Prph2 complexes utilize conventional versus unconventional (Golgi bypass) secretory pathways to reach the OS, acting as a regulator of OS formation. Knockin mouse expressing chimeric RRCT protein (Rom1 body + Prph2 C-terminus), electroretinography, immunofluorescence, biochemical trafficking assays, genetic crosses with Rom1-null mice Human molecular genetics High 30307502
2017 Rom1 modifies the phenotype of Y141C-Prph2: in vitro, Y141C-Prph2 is retained in the ER but co-expression with Rom1 rescues this. In heterozygous Y141C knockin mice, Y141C-Prph2 and Rom1 form abnormal complexes. Ablation of Rom1 eliminates these abnormal complexes and converts the cone-dominant macular/pattern dystrophy phenotype (with cone ERG defects and abnormal Prph2/Rom1 complexes) to a rod-dominant retinitis pigmentosa-like phenotype (rod ERG defects and reduced total Prph2), demonstrating Rom1 as a disease modifier. Y141C-Prph2 knockin mouse, Rom1 knockout cross (Prph2Y/+/Rom1-/-), in vitro co-expression, ER retention assay, electroretinography, immunoblot for complex composition Human molecular genetics High 28053051
2019 The C213Y Prph2 mutation (associated with butterfly-shaped pattern dystrophy) disrupts oligomerization with Rom1 while retaining homotetramers. C213Y heterozygotes show decreased overall Prph2 levels and reduced rod and cone function. Supplementation with extra WT Prph2 improves protein levels and rod OS structure but does not rescue function in rods or cones, indicating a gain-of-function mechanism distinct from haploinsufficiency-related RP caused by adjacent cysteine (C214) mutations. C213Y-Prph2 knockin mouse, WT Prph2 transgenic supplementation cross, electroretinography, immunoblot, non-reducing SDS-PAGE for oligomer analysis FASEB journal High 31914632
2016 K153Δ-Prph2 cannot form the oligomeric complexes required for outer segment formation and, in cones specifically, cannot interact with Rom1. K153Δ causes dominant defects in both rod and cone function; rod (but not cone) ultrastructure is partially improved by the presence of K153Δ-Prph2, and supplementation with WT Prph2 yields structural but not functional improvements, indicating that Prph2's structural and functional (signaling) roles can be dissociated and differ between rods and cones. K153Δ-Prph2 knockin mouse, WT Prph2 transgenic supplementation, electroretinography, electron microscopy, co-immunoprecipitation for Rom1 interaction Human molecular genetics High 27365499
2020 Rom1 contributes to phenotypic heterogeneity in PRPH2-associated disease in a mutation-specific manner: reducing Rom1 by one allele (Rom1+/-) in K153Δ-Prph2 knockin mice improves rod and cone function and ameliorates defects in PRPH2/ROM1 oligomerization, whereas in R172W-Prph2 knockin mice it worsens rod and cone function and exacerbates retinal degeneration. Reducing Rom1 has no effect in C213Y-Prph2 knockin mice. Three Prph2 knockin models (C213Y, K153Del, R172W) crossed with Rom1+/- mice, electroretinography, retinal histology, biochemical oligomerization assays Human molecular genetics High 32716032
2023 ROM1 is functionally redundant to PRPH2 as a structural building block of photoreceptor disc rims: ROM1 knockout causes compensatory upregulation of PRPH2 at disc rims; this increase is insufficient to prevent delayed disc enclosure and loss of incisures, but further PRPH2 overexpression rescues these morphological defects. A knockin mouse in which the tetraspanin body of PRPH2 is replaced with that of ROM1 still forms disc rims, demonstrating functional interchangeability of the two proteins' tetraspanin bodies for this structure. ROM1 knockout mice, PRPH2 overexpression rescue cross, PRPH2-body-replaced-by-ROM1-body knockin mouse, electron microscopy, immunoblot quantification of disc rim proteins eLife High 37991486
2008 Prph2 is a direct transcriptional target of the nuclear receptor NR2E3: chromatin immunoprecipitation shows NR2E3 binds the Prph2 locus, and Prph2 mRNA and protein levels are reduced in Nr2e3(rd7/rd7) mutant retinas. A novel ENU-induced Prph2 splicing mutation (nmf193, aberrant splicing between exons 1 and 2) phenocopies Nr2e3(rd7/rd7) photoreceptor degeneration, linking NR2E3 regulation of Prph2 to photoreceptor survival. Positional cloning, Sanger sequencing, quantitative RT-PCR, immunoblot, chromatin immunoprecipitation (ChIP) in Nr2e3(rd7/rd7) retinas Mammalian genome High 18763016
2022 PRPF31 physically interacts with PRPH2 and co-localizes with it in HEK293T cells, ARPE-19 cells, and mouse retina, as demonstrated by co-immunoprecipitation (PRPF31 pulled down with anti-PRPH2 antibody) and immunofluorescence co-localization. Co-immunoprecipitation, immunofluorescence co-localization in HEK293T and ARPE-19 cells and mouse retina Biochemical and biophysical research communications Medium 36088804
2022 Prph2 disease mutations lead to structural abnormalities and cell loss in the RPE, including impaired clearance of phagocytosed outer segment material and increased microglial activation, with severity varying between different Prph2 disease models, suggesting that the specific type of abnormal outer segment structure created by each Prph2 mutation differentially stresses the RPE. Multiple Prph2 knockin disease mouse models, RPE histology, phagocytosis clearance assay, microglial activation (immunohistochemistry), comparison across models FASEB journal Medium 35344225
2023 Comparative analysis of three D2 loop cysteine mutants (Y141C, C213Y, C150S) in knockin mice shows that mutations interfering with PRPH2 oligomerization severely affect rods (not merely through haploinsufficiency), while cones are less sensitive to mutant protein toxicity and can better tolerate reduced PRPH2 levels. This supports knockdown-based therapeutic strategies for preserving cone function. Three Prph2 D2-loop cysteine knockin mouse models, electroretinography, electron microscopy, non-reducing SDS-PAGE for oligomerization, immunofluorescence for subcellular localization Cellular and molecular life sciences High 37466729
2025 The c.828+1G>A PRPH2 splice site mutation leads to activation of a cryptic splice site and intron retention, forming a mutant transcript, as demonstrated in hiPSCs and hiPSC-derived retinal organoids. Correction of this mutation by prime editing restored the canonical PRPH2 transcript and reduced the mutant transcript. Prime editing in hiPSCs, RT-PCR analysis of splice products in retinal organoids (DD50/DD100), heterozygous and homozygous edited clones compared Molecular therapy. Nucleic acids Medium 41210588
2017 PARP overactivation occurs before the peak of photoreceptor degeneration in the rd2 (Prph2 mutant) mouse, and pharmacological inhibition of PARP with PJ34 decreases poly-ADP-ribosylation and photoreceptor cell death, establishing PARP as causally involved in Prph2 mutation-driven photoreceptor degeneration. Prph2(rd2) mouse model, PARP activity assay, poly-ADP-ribose immunodetection, TUNEL cell death assay, PJ34 PARP inhibitor treatment, temporal progression analysis PloS one Medium 28723922
2025 PARP inhibitors (Olaparib, BMN-673, 3-aminobenzamide) protect both rod and cone photoreceptors in the rd2 (Prph2 mutant) retina, with BMN-673 showing highest efficacy. Treatment increased rhodopsin expression, decreased Müller cell (GFAP) activation, altered oxidative stress markers (GSH/GSSG ratio), and reduced CD9-positive extracellular vesicle accumulation in the outer nuclear layer. Prph2(rd2) mouse model, pharmacological PARP inhibitor treatment, immunohistochemistry (rhodopsin, GFAP, CD9), cone density quantification, glutathione measurement Acta neuropathologica communications Medium 40170065
2019 The Prph2 C-terminus regulates protein trafficking (including Golgi bypass/unconventional secretion), membrane curvature induction, ectosome secretion, and membrane fusion, and is necessary for initiation of outer segment morphogenesis. Review/mini-review synthesizing experimental work on chimeric Prph2 constructs and C-terminus truncation/substitution studies Advances in experimental medicine and biology Low 31884660
2019 PRPH2 overexpression in laryngeal cancer cells suppresses invasion and anoikis inhibition by activating Hippo signaling: PRPH2 overexpression increased phosphorylation of YAP and LATS1 and decreased Rho GTPase activity, while PRPH2 knockdown had opposite effects. Hippo pathway inhibitors abrogated PRPH2-knockdown-induced invasion and anoikis inhibition. Transwell matrigel invasion assay, annexin V anoikis assay, qRT-PCR, Western blot for p-YAP, p-LATS1, Rho GTPase activity assay, pharmacological Hippo pathway inhibition in laryngeal cancer cells Cancer management and research Low 31819643

Source papers

Stage 0 corpus · 98 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 Intraocular gene delivery of ciliary neurotrophic factor results in significant loss of retinal function in normal mice and in the Prph2Rd2/Rd2 model of retinal degeneration. Gene therapy 114 12621456
2016 PRPH2/RDS and ROM-1: Historical context, current views and future considerations. Progress in retinal and eye research 100 26773759
2014 The BCL6 RD2 domain governs commitment of activated B cells to form germinal centers. Cell reports 77 25176650
2003 Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy. The journal of gene medicine 74 12950066
2008 Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. American journal of ophthalmology 68 19038374
2004 Evaluation of T-cell responses to novel RD1- and RD2-encoded Mycobacterium tuberculosis gene products for specific detection of human tuberculosis infection. Infection and immunity 66 15102765
2010 ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative ophthalmology & visual science 59 20335603
2015 Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap. Investigative ophthalmology & visual science 58 26024099
2017 The Aβ oligomer eliminating D-enantiomeric peptide RD2 improves cognition without changing plaque pathology. Scientific reports 51 29176708
2011 Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology 50 21269699
2011 Lateral gene transfer of streptococcal ICE element RD2 (region of difference 2) encoding secreted proteins. BMC microbiology 48 21457552
2018 Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation. Human molecular genetics 47 29961824
2019 Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization. Human molecular genetics 41 30307502
2014 Gene therapy for PRPH2-associated ocular disease: challenges and prospects. Cold Spring Harbor perspectives in medicine 39 25167981
2013 RD2-MolPack-Chim3, a packaging cell line for stable production of lentiviral vectors for anti-HIV gene therapy. Human gene therapy methods 38 23767932
2020 Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Human mutation 36 32531846
1995 Gonococcal rfaF mutants express Rd2 chemotype LPS and do not enter epithelial host cells. Molecular microbiology 36 7746148
2009 Novel recombinant RD2- and RD11-encoded Mycobacterium tuberculosis antigens are potential candidates for diagnosis of tuberculosis infections in BCG-vaccinated individuals. Microbes and infection 35 19467342
2021 PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease. Human mutation 33 34411390
2014 High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. American journal of ophthalmology 33 25447119
2009 Utility of a combination of RD1 and RD2 antigens as a diagnostic marker for tuberculosis. Diagnostic microbiology and infectious disease 31 19833469
2023 Characterization, genome analysis and antibiofilm efficacy of lytic Proteus phages RP6 and RP7 isolated from university hospital sewage. Virus research 28 36717023
2017 Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. Human molecular genetics 28 28053051
2019 Novel molecular mechanisms for Prph2-associated pattern dystrophy. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 27 31914632
2009 Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 27 19506198
2022 PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations. Ophthalmology. Retina 26 36563963
2016 The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function. Human molecular genetics 26 27365499
2016 Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Investigative ophthalmology & visual science 25 26842753
2020 PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. Genes 23 32660024
2014 Utility of B-cell epitopes based peptides of RD1 and RD2 antigens for immunodiagnosis of pulmonary tuberculosis. Diagnostic microbiology and infectious disease 23 24485599
2017 Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. PloS one 22 28723922
2010 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. European journal of ophthalmology 22 20213611
2004 Genetic diversity of cell-invasive erythromycin-resistant and -susceptible group A streptococci determined by analysis of the RD2 region of the prtF1 gene. Journal of clinical microbiology 21 14766830
2016 High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation. Ophthalmic surgery, lasers & imaging retina 20 27977834
2012 Rasagiline interferes with neurodegeneration in the Prph2/rds mouse. Retina (Philadelphia, Pa.) 20 21878836
2021 Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes 19 34828423
2012 Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. Molecular medicine reports 19 22948568
2019 Toward the Mode of Action of the Clinical Stage All-d-Enantiomeric Peptide RD2 on Aβ42 Aggregation. ACS chemical neuroscience 18 31710458
2015 Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. JAMA ophthalmology 18 25675413
2022 Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes. Diagnostics (Basel, Switzerland) 16 36010202
2020 Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease. Acta ophthalmologica 16 33354892
2019 PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. Ophthalmic genetics 16 31618092
2018 Deceleration of the neurodegenerative phenotype in pyroglutamate-Aβ accumulating transgenic mice by oral treatment with the Aβ oligomer eliminating compound RD2. Neurobiology of disease 14 30391539
2014 Prph2 mutations as a cause of electronegative ERG. Retina (Philadelphia, Pa.) 14 24608669
2004 Improvement of neuronal visual responses in the superior colliculus in Prph2(Rd2/Rd2) mice following gene therapy. Molecular and cellular neurosciences 14 14962744
2008 A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas. Mammalian genome : official journal of the International Mammalian Genome Society 13 18763016
2023 Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. Documenta ophthalmologica. Advances in ophthalmology 12 36609934
2019 NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene. Genes 12 31614793
2022 Prph2 disease mutations lead to structural and functional defects in the RPE. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 11 35344225
2021 OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant. European journal of ophthalmology 10 33736480
2020 A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy. Ophthalmic surgery, lasers & imaging retina 10 32579694
2019 Retinal dystrophies and variants in PRPH2. Arquivos brasileiros de oftalmologia 10 30726412
2021 Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA. Diagnostics (Basel, Switzerland) 9 33925984
2020 ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease. Human molecular genetics 9 32716032
2021 The RD2 Pathogenicity Island Modifies the Disease Potential of the Group A Streptococcus. Infection and immunity 8 33820819
2019 Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1. Cold Spring Harbor molecular case studies 8 30630813
2024 PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. International journal of molecular sciences 7 38474159
2023 Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation. Advances in experimental medicine and biology 6 37440020
2023 Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones. Cellular and molecular life sciences : CMLS 6 37466729
2022 PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization. Biochemical and biophysical research communications 6 36088804
2018 Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic genetics 6 29630435
2016 Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy. Ophthalmic genetics 6 26849151
2011 Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2. The British journal of ophthalmology 6 22174098
2024 Biotransformation approach to produce rare ginsenosides F1, compound Mc1, and Rd2 from major ginsenosides. Archives of microbiology 5 38493413
2023 ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims. eLife 5 37991486
2021 Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant. Ophthalmic genetics 5 34486473
2020 Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Ophthalmic genetics 5 32942919
2018 BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1. Retinal cases & brief reports 5 29155698
2018 Assessing and screening for T-cell epitopes from Mycobacterium tuberculosis RD2 proteins for the diagnosis of active tuberculosis. The Brazilian journal of infectious diseases : an official publication of the Brazilian Society of Infectious Diseases 5 30528601
2012 Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. Vision research 5 22842402
2015 [Genotype-phenotype correlation in patients with PRPH2-mutations]. Klinische Monatsblatter fur Augenheilkunde 4 25803555
2009 Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus. Journal of human genetics 4 19696794
2025 Prime editing for the investigation of aberrant splicing defect associated with a pathogenic PRPH2 variant. Molecular therapy. Nucleic acids 3 41210588
2024 Using Multimodal Imaging to Refine the Phenotype of PRPH2-associated Retinal Degeneration. Ophthalmology. Retina 3 39089460
2020 Oral absorption enhancement of the amyloid-β oligomer eliminating compound RD2 by conjugation with folic acid. European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences 3 33035662
2019 The Role of the Prph2 C-Terminus in Outer Segment Morphogenesis. Advances in experimental medicine and biology 3 31884660
2025 The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease. Advances in experimental medicine and biology 2 39930215
2025 PARP inhibition preserves cone photoreceptors in rd2 retina. Acta neuropathologica communications 2 40170065
2024 A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration. Human molecular genetics 2 39231530
2024 Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report. Translational vision science & technology 2 39382871
2023 Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. Klinische Monatsblatter fur Augenheilkunde 2 37164409
2023 Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation. Cell death & disease 2 37914688
2021 PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation. Ophthalmic genetics 2 34906036
2019 PRPH2 Activates Hippo Signalling and Suppresses the Invasion and Anoikis Inhibition of Laryngeal Cancer. Cancer management and research 2 31819643
2025 Genotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK. Genes 1 41009962
2024 The group A Streptococcus pathogenicity island RD2: virulence role and barriers to conjugative transfer. Infection and immunity 1 39601571
2024 Intrafamilial Phenotypic Variability in PRPH2-Related Retinopathy. Cureus 1 39610584
2023 Identification and cellular localization in Xenopus laevis photoreceptors of three Peripherin-2 family members, Prph2, Rom1 and Gp2l, which arose from gene duplication events in the common ancestors of jawed vertebrates. Experimental eye research 1 38158174
2021 A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma. BMC ophthalmology 1 34399712
2026 Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population. Ophthalmic genetics 0 41912280
2025 Clearing the AIR: A PRPH2 mutation identified in the evaluation of presumed autoimmune retinopathy. American journal of ophthalmology case reports 0 39944181
2025 Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants. Biomedicines 0 40722607
2025 Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp). Journal of clinical medicine 0 40725586
2025 Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy. Ophthalmic genetics 0 41047250
2024 LONG-TERM FOLLOW-UP OF PRPH2 -ASSOCIATED RETINAL DYSTROPHY. Retinal cases & brief reports 0 36053859
2023 NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT. Retinal cases & brief reports 0 34127626
2023 PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family. Arquivos brasileiros de oftalmologia 0 39298723
2020 A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium. European journal of ophthalmology 0 35042295

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