Affinage

RPGRIP1

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 · UniProt Q96KN7

Length
1286 aa
Mass
146.7 kDa
Annotated
2026-04-28
56 papers in source corpus 17 papers cited in narrative 17 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RPGRIP1 is a structural scaffolding protein of the photoreceptor connecting cilium that is essential for outer segment morphogenesis and ciliary protein trafficking. It anchors RPGR to the cilium through a direct C-terminal RID–RHD interaction, recruits nephrocystin-4 (NPHP4) and SDCCAG8 to the ciliary compartment via its C2 domains, and connects RPGR to the nephronophthisis network through nephrocystin-6 (PMID:11283794, PMID:16339905, PMID:22825473, PMID:20200501). RPGRIP1 forms a complex with SPATA7 required for stable ciliary assembly and rhodopsin trafficking to outer segments, and recruits a Nek4 kinase signaling network that regulates cilium stability (PMID:25398945, PMID:21685204). Loss of RPGRIP1 causes failure of rod outer segment formation, mislocalization of RPGR/NPHP4/SDCCAG8 from photoreceptor cilia, and Rab8-dependent rhodopsin trafficking defects, establishing it as a cause of Leber congenital amaurosis, with rescue demonstrated by AAV-mediated gene replacement in mouse, dog, and human retinal organoid models (PMID:19679561, PMID:29203866, PMID:16123399, PMID:20384479, PMID:41270749).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2001 High

    Identification of RPGRIP1 as a direct binding partner of RPGR at the connecting cilium established the first molecular link between RPGR signaling and a ciliary scaffold protein, answering how RPGR is tethered to the photoreceptor cilium.

    Evidence Yeast two-hybrid and co-localization in rod and cone photoreceptors

    PMID:11283794

    Open questions at the time
    • Structural basis of the RID–RHD interaction not resolved
    • Functional consequence of interaction disruption not yet tested in vivo
  2. 2002 High

    Species-specific differences in RPGRIP1/RPGR isoform localization within outer segments versus connecting cilia explained why mouse and human phenotypes diverge, revealing that isoform repertoire determines subcellular distribution.

    Evidence Isoform-specific antibody immunostaining and subcellular fractionation across human, bovine, and mouse retinas

    PMID:12140192

    Open questions at the time
    • Which isoforms are functionally redundant remains untested
    • Regulatory mechanisms governing isoform expression not addressed
  3. 2005 High

    Multiple advances established RPGRIP1's functional architecture: its C2 domain binds NPHP4 (disrupted by LCA mutations), its RID undergoes gain- or loss-of-function mutations affecting RPGR binding, and it localizes with RPGR to basal bodies across the cell cycle, collectively defining RPGRIP1 as a multi-domain ciliary scaffold linking retinal and renal ciliopathy networks.

    Evidence Yeast two-hybrid, Co-IP, in vitro binding, 3D modeling of C2 domain (NPHP4 interaction); chemical genetics, proteolysis assays (RID mutations); immunofluorescence with nocodazole treatment, mass spectrometry (basal body localization and NPM interaction)

    PMID:15772089 PMID:15800011 PMID:16339905

    Open questions at the time
    • Whether NPHP4 and RPGR bind RPGRIP1 simultaneously or competitively is unknown
    • Functional significance of the nuclear-targeted N-terminal proteolytic fragment not established
  4. 2005 High

    AAV-mediated RPGRIP1 gene replacement in knockout mice restored RPGR ciliary localization, photoreceptor structure, and ERG function, providing proof of principle that RPGRIP1 loss is the direct cause of photoreceptor degeneration and is amenable to gene therapy.

    Evidence Subretinal AAV injection in Rpgrip1-null mice with ERG, histology, and immunostaining readouts

    PMID:16123399

    Open questions at the time
    • Long-term durability of rescue not reported
    • Cone-specific rescue not separately quantified
  5. 2009 High

    A complete Rpgrip1 knockout (ablating all isoforms) showed total failure of rod outer segment formation, distinguishing it from a long-isoform-specific knockout with milder disc dysmorphogenesis, and establishing that distinct RPGRIP1 isoforms play non-redundant roles in OS morphogenesis.

    Evidence Comparison of two knockout mouse models by electron microscopy and histology

    PMID:19679561

    Open questions at the time
    • Individual isoform contributions not genetically dissected
    • Whether cone OS formation is independently regulated by RPGRIP1 isoforms is untested
  6. 2010 High

    RPGRIP1 was shown to bridge RPGR to the nephrocystin network via nephrocystin-6, and human RPGRIP1 delivered by AAV8 in knockout mice restored both rod and cone function, extending gene therapy applicability and placing RPGRIP1 at the intersection of retinal and renal ciliopathy pathways.

    Evidence Zebrafish morpholino knockdown with nephrocystin epistasis analysis; subretinal AAV8-hRPGRIP1 injection in knockout mice with ERG and histology

    PMID:20200501 PMID:20384479

    Open questions at the time
    • Direct biochemical reconstitution of the RPGR–RPGRIP1–NPHP6 ternary complex not performed
    • Whether RPGRIP1 loss contributes to kidney phenotypes in humans is unresolved
  7. 2011 High

    Identification of Nek4 kinase as an RPGRIP1/RPGRIP1L interactor demonstrated that RPGRIP1 recruits a kinase signaling network to the ciliary base, and Nek4 knockdown reduced cilium assembly, answering how RPGRIP1 scaffolding regulates cilium stability beyond static structural support.

    Evidence Tandem affinity purification/mass spectrometry, immunolocalization to basal bodies and ciliary rootlet, siRNA knockdown with cilium assembly readout

    PMID:21685204

    Open questions at the time
    • Nek4 substrates at the cilium not identified
    • Whether Nek4 phosphorylates RPGRIP1 itself is unknown
  8. 2012 High

    RPGRIP1 was shown to be required specifically in photoreceptors (but not kidney) for ciliary targeting of NPHP4, RPGR, and SDCCAG8, which in its absence shift to ER-associated membranes, establishing cell-type-specific ciliary gating as a core RPGRIP1 function.

    Evidence Immunofluorescence, subcellular fractionation, and ultrastructural analysis in Rpgrip1(nmf247) knockout mouse photoreceptors versus kidney

    PMID:22825473

    Open questions at the time
    • Mechanism by which RPGRIP1 confers cell-type-specific gating is unknown
    • Whether other ciliary proteins also depend on RPGRIP1 for targeting is not systematically tested
  9. 2014 High

    SPATA7 was identified as a direct RPGRIP1 partner required for stable RPGRIP1 localization at the connecting cilium; Spata7 loss destabilized RPGRIP1 and caused rhodopsin accumulation in inner segments, answering how RPGRIP1 itself is stabilized at the cilium and linking the complex to cargo trafficking.

    Evidence Co-immunoprecipitation, immunofluorescence, and rhodopsin mislocalization assay in Spata7 knockout mouse

    PMID:25398945

    Open questions at the time
    • Stoichiometry and structure of the SPATA7–RPGRIP1 complex not determined
    • Whether SPATA7 is required for RPGRIP1 protein stability or only ciliary targeting is unresolved
  10. 2017 Medium

    Zebrafish rpgrip1 mutants revealed that RPGRIP1 loss causes Rab8 mislocalization in addition to rhodopsin misdistribution, implicating RPGRIP1 in regulation of Rab8-dependent vesicular trafficking to the cilium.

    Evidence Zebrafish nonsense mutant with immunofluorescence localization of Rab8 and rhodopsin

    PMID:29203866

    Open questions at the time
    • Whether RPGRIP1 directly interacts with Rab8 or acts indirectly is untested
    • Mechanism linking RPGRIP1 to Rab8 recruitment not defined
  11. 2023 Medium

    MAP9 was identified as a basal body-localized ciliary microtubule protein whose loss synergizes with RPGRIP1 deficiency to accelerate cone degeneration, establishing MAP9 as a genetic modifier and revealing that ciliary axoneme integrity and RPGRIP1 scaffolding converge on cone survival.

    Evidence Immunostaining, ultrastructural analysis, and ERG in RPGRIP1/MAP9 double-mutant dogs

    PMID:37650070

    Open questions at the time
    • Whether RPGRIP1 and MAP9 physically interact is not determined
    • Mechanism of cone-specific synergy versus rod phenotype is unexplained
  12. 2025 Medium

    Human iPSC-derived retinal organoids from RPGRIP1-IRD patients recapitulated connecting cilium interactome dysfunction, stress response, and proteostasis defects, and AAV gene augmentation rescued these phenotypes, validating organoid biomarkers for therapy development and confirming pathogenicity of a missense VUS.

    Evidence iPSC-derived retinal organoid modeling with immunostaining, proteostasis assays, and AAV gene augmentation

    PMID:41270749

    Open questions at the time
    • Whether organoid biomarkers predict in vivo therapeutic efficacy in humans is unproven
    • Long-term structural rescue in organoids not assessed

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis of RPGRIP1's multi-domain scaffold assembly, how it confers photoreceptor-specific ciliary gating versus kidney, the identity of Nek4 substrates at the cilium, whether RPGRIP1 directly regulates Rab8-dependent trafficking or acts indirectly, and long-term efficacy of gene therapy in human patients.
  • No high-resolution structure of RPGRIP1 or its complexes
  • Nek4 substrates at the cilium unidentified
  • Mechanism of photoreceptor-specific versus kidney ciliary targeting unknown
  • Direct link between RPGRIP1 and Rab8 trafficking pathway not biochemically established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 6
Localization
GO:0005929 cilium 4 GO:0005815 microtubule organizing center 2
Pathway
R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-9609507 Protein localization 3
Partners
MAP9NEK4NPHP4NPHP6RPGRRPGRIP1LSDCCAG8SPATA7

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 RPGRIP1 protein directly interacts with RPGR (retinitis pigmentosa GTPase regulator) through its C-terminal RPGR-interacting domain (RID), and both proteins co-localize in the ciliary structure connecting inner and outer segments of rod and cone photoreceptors. Protein interaction studies (yeast two-hybrid, co-localization); identification of RID domain American journal of human genetics High 11283794
2002 RPGR and RPGRIP1 isoforms show species-specific subcellular localization: in human and bovine rod photoreceptors they are distributed and co-localized at restricted foci throughout the outer segments, and in humans also in cone outer segments, whereas in mice they are absent from these compartments, explaining phenotypic disparities between species. Isoform-specific antibody immunostaining and subcellular fractionation across species Human molecular genetics High 12140192
2005 The C-terminal C2 domain of RPGRIP1 specifically binds to nephrocystin-4 (NPHP4) in vitro and in vivo, and they co-localize in the retina. LCA-associated missense mutations in RPGRIP1 or nephronophthisis-associated mutations in NPHP4 disrupt this interaction. Yeast two-hybrid screening of retinal cDNA library, in vitro binding assay, co-immunoprecipitation, co-localization, 3D homology modeling of C2 domain Proceedings of the National Academy of Sciences of the United States of America High 16339905
2005 RPGRIP1 and RPGR(ORF15) co-localize at centrioles and basal bodies in cultured mammalian cells and at basal bodies in ciliated cells; this localization is resistant to nocodazole and persists throughout the cell cycle. RPGR(ORF15) interacts with nucleophosmin (NPM), confirmed by mass spectrometry, yeast two-hybrid, in vitro binding, and co-immunoprecipitation from bovine retinal extracts. Immunofluorescence localization, nocodazole treatment, MALDI-TOF mass spectrometry, yeast two-hybrid, in vitro binding assay, co-immunoprecipitation Human molecular genetics High 15772089
2005 Monoallelic mutation DeltaE1279 in the RPGR-interacting domain (RID) of RPGRIP1 constitutes a gain-of-function that enhances and renders stress-resistant its interaction with RPGR, while homozygous D1114G is a loss-of-function abolishing RPGR interaction. RPGRIP1 isoforms undergo constitutive limited proteolysis in the cytoplasm, generating a stable ~7 kDa N-terminal fragment that relocates to the nucleus, while the C-terminal domain is degraded. Chemical genetics/stress assays, in vivo interaction assays, subcellular fractionation, limited proteolysis assay Human molecular genetics Medium 15800011
2005 AAV-mediated RPGRIP1 gene replacement in RPGRIP1-null mice restores RPGR localization at the connecting cilia, preserves photoreceptor structure (thicker outer nuclear layer, well-developed outer segments), and rescues retinal function as measured by ERG. Subretinal AAV injection, immunostaining, histology, electroretinography in knockout mouse model Investigative ophthalmology & visual science High 16123399
2009 RPGRIP1 is essential for rod outer segment (OS) elaboration and morphogenesis: knockout mice lacking multiple Rpgrip1 isoforms fail to form rod outer segments entirely, while a previously described long-isoform knockout showed only OS disc dysmorphogenesis, indicating distinct isoforms play different roles in photoreceptors. Knockout mouse model (splice acceptor site mutation), ultrastructural electron microscopy, comparison with prior knockout model Human molecular genetics High 19679561
2010 Human RPGRIP1 delivered via AAV8 subretinally in RPGRIP1-null mice localizes correctly to the connecting cilia, restores normal RPGR localization, and preserves rod and cone photoreceptor function and survival. Subretinal AAV8 injection of human RPGRIP1, immunostaining, ERG, histology in knockout mouse Human gene therapy High 20384479
2011 RPGRIP1 and its homolog RPGRIP1L interact with Nek4 serine/threonine kinase as identified by tandem affinity purification/mass spectrometry. Nek4 localizes to basal bodies in ciliated cells and to the ciliary rootlet in ciliated organs; NEK4 knockdown reduces cilium assembly, supporting a role for RPGRIP1 as a cilium-specific scaffold recruiting a Nek4 signaling network that regulates cilium stability. Tandem affinity purification combined with mass spectrometry, immunolocalization, siRNA knockdown of NEK4 in ciliated cells Human molecular genetics High 21685204
2011 RPGRIP1 determines the subcellular targeting of RPGR isoforms: RPGR(1-19) localizes to the endoplasmic reticulum while RPGR(ORF15) is cytosolic, and each RPGR isoform distinctly determines co-localization and tethering of RPGRIP1α1. RPGR(ORF15) suppresses RPGRIP1α1 self-aggregation and protects its RID from limited proteolysis. Disease mutations in RPGR or RID of RPGRIP1 exert distinct cell-type-dependent effects on subcellular targeting. Molecular modeling, co-expression in kidney/photoreceptor/hepatocyte cell lines, immunofluorescence, co-immunoprecipitation, limited proteolysis assay Biology open Medium 23213406
2012 RPGRIP1 localizes exclusively throughout the photoreceptor connecting cilium (CC) distal to the centrin-2/basal body marker. In Rpgrip1-null photoreceptors, NPHP4, RPGR, and SDCCAG8 are lost from cilia, and SDCCAG8 and NPHP4 are shifted to the ER-associated membrane fraction, demonstrating that RPGRIP1 is required for ciliary targeting of these partners specifically in photoreceptors but not in kidney cells. Immunofluorescence localization, subcellular fractionation, immunohistochemistry in Rpgrip1(nmf247) knockout mouse, ultrastructural analysis Cell death & disease High 22825473
2010 RPGRIP1 acts as an adaptor connecting RPGR to nephrocystin-6, linking the RPGR complex to the nephronophthisis protein network; truncating mutations in RPGRIP1 (c.1107delA) abolish this interaction. Depletion of RPGR during zebrafish embryogenesis causes developmental abnormalities indistinguishable from nephrocystin-5 or nephrocystin-6 depletion. Zebrafish morpholino knockdown with phenotypic analysis, protein interaction assay, mutation analysis Kidney international Medium 20200501
2014 SPATA7 directly interacts with RPGRIP1 and is required for stable assembly and localization of RPGRIP1 at the connecting cilium of photoreceptors. In Spata7-null retinas, RPGRIP1 levels at the CC are substantially reduced, and rhodopsin accumulates in inner segments, indicating that the SPATA7-RPGRIP1 complex is required for protein trafficking across the connecting cilium to the outer segments. Co-immunoprecipitation (direct interaction), immunofluorescence in Spata7 knockout mouse, rhodopsin mislocalization assay Human molecular genetics High 25398945
2017 In rpgrip1 zebrafish mutants, rod outer segments fail to form, rhodopsin is mislocalized, and Rab8 (a key regulator of rhodopsin ciliary trafficking) is mislocalized in photoreceptor cells, supporting a role for RPGRIP1 in rhodopsin-bearing vesicle trafficking via regulation of Rab8-dependent ciliary transport. Zebrafish nonsense mutant model, immunofluorescence localization of rhodopsin and Rab8, histology Scientific reports Medium 29203866
2011 Missense mutations in the C2 domains of RPGRIP1 (p.R598Q, p.A635G, p.T806I, p.A837G, p.I838V) decrease the association of the C2 domains with nephrocystin-4 (NPHP4) as shown by yeast two-hybrid, supporting that disruption of this interaction contributes to glaucoma pathogenesis. Yeast two-hybrid analysis of C2-domain missense mutations European journal of human genetics Low 21224891
2025 iPSC-derived retinal organoids from RPGRIP1-IRD patients show connecting cilium interactome dysfunction, stress response abnormalities, and proteostasis defects as disease biomarkers. RPGRIP1 gene augmentation therapy in organoids rescued these phenotypes, and the missense VUS c.2108T>C p.(Ile703Thr) was confirmed pathogenic using these biomarkers. iPSC-derived retinal organoid modeling, immunostaining for CC interactome, stress/proteostasis assays, AAV gene augmentation in organoids Stem cell reports Medium 41270749
2023 MAP9 localizes to the basal body of primary cilia in canine retinal photoreceptors and cultured cells, where it maintains ciliary microtubule axoneme structure. In the RPGRIP1/MAP9 double homozygous mutant dog, cone photoreceptor degeneration is accelerated compared to RPGRIP1 mutant alone, establishing MAP9 as a modifier that synergizes with RPGRIP1 deficiency to disrupt cilia organization. Immunostaining of canine retinal sections and cultured cells, ultrastructural analysis, ERG functional assessment in double-mutant dogs Frontiers in cellular neuroscience Medium 37650070

Source papers

Stage 0 corpus · 56 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 Null RPGRIP1 alleles in patients with Leber congenital amaurosis. American journal of human genetics 240 11283794
2001 Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. European journal of human genetics : EJHG 133 11528500
2005 Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proceedings of the National Academy of Sciences of the United States of America 106 16339905
2005 Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Investigative ophthalmology & visual science 105 16123399
2005 RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Human molecular genetics 92 15772089
2006 Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88 16806805
2002 Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Human molecular genetics 87 12140192
2005 Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. Journal of medical genetics 76 16272259
2020 RGF1-RGI1, a Peptide-Receptor Complex, Regulates Arabidopsis Root Meristem Development via a MAPK Signaling Cascade. Molecular plant 69 32916335
2010 Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Human gene therapy 63 20384479
2009 RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis. Human molecular genetics 60 19679561
2011 The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Human molecular genetics 58 21685204
2013 Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy 54 24091916
2014 Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Human molecular genetics 52 25398945
2012 Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons. Cell death & disease 41 22825473
2007 Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology 37 17306875
2009 Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Molecular vision 35 19936303
2011 Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. European journal of human genetics : EJHG 29 21224891
2016 Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mammalian genome : official journal of the International Mammalian Genome Society 28 27017229
2011 Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. Mammalian genome : official journal of the International Mammalian Genome Society 28 22193413
2018 Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genetics in medicine : official journal of the American College of Medical Genetics 26 30072743
2005 RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Ophthalmic genetics 26 16352478
2017 Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish. Scientific reports 24 29203866
2014 Leber congenital amaurosis caused by mutations in RPGRIP1. Cold Spring Harbor perspectives in medicine 24 25414380
2021 Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients. Frontiers in cell and developmental biology 22 34722527
2009 The RPGRIP1-deficient dog, a promising canine model for gene therapy. Molecular vision 21 19223988
2017 Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. Journal of cellular and molecular medicine 20 29193763
2013 The RPGRIP1-related retinal phenotype in children. The British journal of ophthalmology 19 23505306
2005 Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. Human molecular genetics 19 15800011
2016 Identification of human ferritin, heavy polypeptide 1 (FTH1) and yeast RGI1 (YER067W) as pro-survival sequences that counteract the effects of Bax and copper in Saccharomyces cerevisiae. Experimental cell research 18 26886577
2012 Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. Investigative ophthalmology & visual science 17 22807295
2007 Upregulation of Mark3 and Rpgrip1 mRNA expression by jujuboside A in mouse hippocampus. Acta pharmacologica Sinica 17 17302994
2017 Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. Oncotarget 15 28456785
2014 A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. Japanese journal of ophthalmology 15 25096270
2010 The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network. Kidney international 15 20200501
2017 Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. Scientific reports 14 28993665
2023 Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. Human molecular genetics 11 36951959
2011 Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Veterinary ophthalmology 11 21521437
2011 Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms. Biology open 11 23213406
2021 Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations. Molecular vision 10 33907365
2011 Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue. Investigative ophthalmology & visual science 10 21282582
2019 Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations. Human genome variation 8 31666973
2023 Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy. Frontiers in cellular neuroscience 7 37650070
2021 Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. Genes 7 33670832
2012 Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation. Stem cells international 6 22550515
2023 variant associated with pigmented paravenous chorioretinal atrophy. European journal of ophthalmology 5 36755384
2021 Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. Journal of ophthalmology 5 34796026
2016 A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis. Klinische Monatsblatter fur Augenheilkunde 5 27116508
2013 Identification of a novel LCA6 mutation in an Emirati family. Ophthalmic genetics 4 23278760
2024 Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy. American journal of ophthalmology 2 38768745
2023 The RGI1-BAK1 module acts as the main receptor-coreceptor pair for regulating primary root gravitropism and meristem activity in response to RGF1 peptide in Arabidopsis. Plant signaling & behavior 2 37382066
2024 A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. Genetics in medicine open 1 39669618
2025 Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes. PloS one 0 40737315
2025 Connecting cilium, stress response, and proteostasis abnormalities inform variant and therapy assessment in RPGRIP1 retinal organoids. Stem cell reports 0 41270749
2025 Genetic testing drives a decline in the occurrence of the canine PRA-related RPGRIP1 variant without an increase in inbreeding. Veterinary and animal science 0 41551217
2024 Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant. Veterinary ophthalmology 0 39428496