Affinage

RPGRIP1

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

Length
1286 aa
Mass
146.7 kDa
Annotated
2026-06-10
54 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

RPGRIP1 is a structural scaffolding protein of the photoreceptor connecting cilium that anchors RPGR and organizes a multiprotein ciliary network required for outer segment formation and protein trafficking (PMID:11283794, PMID:22825473). It binds RPGR directly through its C-terminal RPGR-interacting domain (RID), which multivalently engages the RPGR homology domain shared by RPGR(1-19) and RPGR(ORF15) isoforms; disease mutations in the RID (e.g. D1114G) abolish this interaction, and RPGR co-expression suppresses RPGRIP1 self-aggregation and protects it from limited proteolysis (PMID:15800011, PMID:23213406). Through its C2 domains, RPGRIP1 binds nephrocystin-4 (NPHP4), an interaction disrupted by LCA- and glaucoma-associated mutations, and it serves as an adaptor linking RPGR to the broader nephronophthisis network including NPHP6/CEP290 (PMID:16339905, PMID:21224891, PMID:20200501). RPGRIP1 localizes throughout the connecting cilium distal to the basal body, and its loss selectively eliminates RPGR and NPHP4 from photoreceptor cilia, reduces SDCCAG8 localization, and shifts these partners to ER-associated membranes without changing their expression (PMID:22825473). It forms a complex with SPATA7 needed for stable ciliary assembly and for trafficking of rhodopsin and Rab8 across the connecting cilium, and acts as a cilium-specific scaffold for a NEK4 kinase network regulating cilium stability (PMID:21685204, PMID:25398945, PMID:29203866). Genetic ablation in mice abolishes rod outer segment formation, and AAV-mediated gene augmentation restores RPGR localization, photoreceptor structure, and function, including rescue of disease phenotypes in patient iPSC-derived retinal organoids (PMID:16123399, PMID:19679561, PMID:20384479, PMID:41270749).

Mechanistic history

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

    Established that RPGRIP1 physically partners with RPGR and co-localizes at the photoreceptor connecting cilium, defining its candidate role at the inner/outer segment junction.

    Evidence Immunostaining co-localization in rod and cone photoreceptors with reported in vivo/in vitro interaction

    PMID:11283794

    Open questions at the time
    • Interaction domain not mapped
    • Functional consequence of the interaction untested
  2. 2002 Medium

    Showed species-specific subcellular distribution of RPGR/RPGRIP1 isoforms, indicating that outer segment organization involves species-dependent processes and that mouse may not recapitulate human localization.

    Evidence Isoform-specific antibody immunostaining across human, bovine, and mouse retina

    PMID:12140192

    Open questions at the time
    • Functional meaning of species differences unresolved
    • Amacrine cell role uncharacterized
  3. 2005 High

    Defined the molecular grammar of RPGRIP1 binding: the C2 domain captures NPHP4 and the RID anchors RPGR, with specific disease mutations toggling these interactions loss- or gain-of-function, linking retinal and renal ciliopathies.

    Evidence Yeast two-hybrid, Co-IP, homology modeling, in vivo interaction and stress assays, subcellular fractionation

    PMID:15772089 PMID:15800011 PMID:16339905

    Open questions at the time
    • Physiological role of nuclear N-terminal fragment unclear
    • Significance of nucleophosmin association not pursued
  4. 2005 High

    Demonstrated causally that RPGRIP1 is required to anchor RPGR at the connecting cilium, since AAV-delivered RPGRIP1 restores RPGR localization and rescues photoreceptor structure/function in knockout retina.

    Evidence Subretinal AAV rescue in Rpgrip1-/- mice with ERG and ultrastructure readouts

    PMID:16123399

    Open questions at the time
    • Mechanism of anchoring at molecular level unresolved
    • Durability of rescue not assessed long-term
  5. 2009 High

    Distinguished isoform-specific functions by showing total RPGRIP1 loss abolishes rod outer segment formation while loss of only the long variant causes disc dysmorphogenesis, establishing distinct roles for RPGRIP1 isoforms.

    Evidence Comparison of two distinct knockout mouse alleles with ultrastructural EM

    PMID:19679561

    Open questions at the time
    • Molecular basis of isoform-specific roles unknown
    • Short-isoform interactome not defined
  6. 2010 Medium

    Extended the scaffold model by establishing RPGRIP1 as an adaptor connecting RPGR to NPHP6/CEP290 and the nephronophthisis network, with truncating mutations breaking this link.

    Evidence Zebrafish morpholino knockdown, interaction assays, and mutation analysis

    PMID:20200501

    Open questions at the time
    • Directness of RPGRIP1-CEP290 contact not fully defined
    • Network stoichiometry unknown
  7. 2011 Medium

    Identified NEK4 as a scaffolded kinase in the RPGRIP1 complex whose loss impairs ciliogenesis, framing RPGRIP1 as a hub for a cilium-stability signaling network rather than a purely structural anchor.

    Evidence Tandem affinity purification-MS, immunolocalization, and NEK4 siRNA knockdown in ciliated cells

    PMID:21685204

    Open questions at the time
    • NEK4 substrates at the cilium unidentified
    • How RPGRIP1 activates/regulates NEK4 unknown
  8. 2011 Medium

    Mapped glaucoma-associated C2-domain mutations to weakened NPHP4 binding, broadening the disease spectrum tied to the RPGRIP1-NPHP4 interface.

    Evidence Yeast two-hybrid quantification of multiple C2-domain missense variants

    PMID:21224891

    Open questions at the time
    • In vivo consequence of partial NPHP4 loss untested
    • Variant pathogenicity in patients not established here
  9. 2012 High

    Resolved RPGRIP1 to the connecting cilium proper and showed its loss selectively removes RPGR and NPHP4 from photoreceptor cilia and redistributes SDCCAG8/NPHP4 to ER membranes, establishing cell-type-specific scaffold dependence.

    Evidence Immunofluorescence, ultrastructure, and subcellular fractionation in Rpgrip1(nmf247) mice with photoreceptor vs kidney comparison

    PMID:22825473

    Open questions at the time
    • Mechanism of partner retention vs mislocalization unclear
    • Why effects are photoreceptor-specific unresolved
  10. 2014 High

    Placed RPGRIP1 in a SPATA7 complex required for stable ciliary assembly and rhodopsin trafficking, linking scaffold integrity to opsin transport and photoreceptor survival.

    Evidence Co-IP, immunofluorescence in Spata7 knockout mice, rhodopsin localization, and TUNEL apoptosis assays

    PMID:25398945

    Open questions at the time
    • Order of assembly between SPATA7 and RPGRIP1 not defined
    • Direct cargo-handling mechanism unresolved
  11. 2017 Medium

    Confirmed in vivo that RPGRIP1 is required for outer segment formation and ciliary trafficking, showing rhodopsin and Rab8 mislocalization when RPGRIP1 is lost.

    Evidence Zebrafish rpgrip1 nonsense mutant with rhodopsin/Rab8 immunofluorescence and outer segment morphology

    PMID:29203866

    Open questions at the time
    • Whether Rab8 defect is direct or downstream unknown
    • Trafficking step controlled by RPGRIP1 not pinpointed
  12. 2025 Medium

    Validated a human disease model showing RPGRIP1 mutations produce connecting-cilium interactome dysfunction, stress, and proteostasis defects, and demonstrated gene augmentation rescue plus pathogenicity assignment of a missense VUS.

    Evidence Patient iPSC-derived retinal organoids with interactome/stress/proteostasis assays and AAV gene augmentation

    PMID:41270749

    Open questions at the time
    • Single-lab organoid model at abstract-level detail
    • Long-term durability and clinical translation untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How RPGRIP1 mechanistically coordinates partner retention, NEK4 signaling, and directional cargo transport at the connecting cilium remains unresolved.
  • No structural model of the assembled RPGRIP1 scaffold
  • NEK4 substrates and signaling output undefined
  • Molecular step of rhodopsin/Rab8 trafficking controlled by RPGRIP1 unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0005198 structural molecule activity 2
Localization
GO:0005929 cilium 3 GO:0005815 microtubule organizing center 2 GO:0005634 nucleus 1
Pathway
R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-9609507 Protein localization 3 R-HSA-1266738 Developmental Biology 2
Partners
CEP290NEK4NPHP4NPM1RPGRSDCCAG8SPATA7
Complex memberships
RPGRIP1-NEK4 signaling complexRPGRIP1-RPGR-NPHP4 ciliary scaffoldRPGRIP1-SPATA7 complex

Evidence

Reading pass · 16 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) in vivo and in vitro; both proteins co-localize in the ciliary structure connecting the inner and outer segments of rod and cone photoreceptors. Co-localization by immunostaining; direct interaction established by prior published work cited in abstract American Journal of Human Genetics Medium 11283794
2002 RPGR and RPGRIP1 isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine (but not mouse) rod photoreceptors, and in cone outer segments in humans; RPGRIP1 is also expressed in amacrine cells. Species-specific subcellular localization indicates species-specific processes governing outer segment organization. Isoform-specific antibody immunostaining of human, bovine, and mouse retinal sections Human Molecular Genetics Medium 12140192
2005 The C-terminal C2 domain of RPGRIP1 specifically binds nephrocystin-4 (NPHP4). This interaction was confirmed in vitro and in vivo, and RPGRIP1 and nephrocystin-4 co-localize in the retina. Disease-causing mutations in either RPGRIP1 (LCA-associated) or NPHP4 (nephronophthisis-associated) disrupt this interaction. Yeast two-hybrid screening of retinal cDNA library; co-immunoprecipitation (in vivo); 3D homology modeling of C2 domain; interaction disruption by disease mutations Proceedings of the National Academy of Sciences of the USA High 16339905
2005 RPGRIP1 localizes to centrioles and basal bodies in cultured mammalian cells (co-localizing with RPGR(ORF15)), and these localizations are resistant to nocodazole and persist throughout the cell cycle. RPGR, RPGRIP1, and nucleophosmin (NPM) can be co-immunoprecipitated from bovine retinal extracts. Immunofluorescence in cultured cells; nocodazole treatment; co-immunoprecipitation from bovine retinal extracts; MALDI-TOF mass spectrometry; yeast two-hybrid; in vitro binding assays Human Molecular Genetics High 15772089
2005 The RPGR-interacting domain (RID) of RPGRIP1 interacts with RPGR in vivo. Disease mutation D1114G in RID abolishes this interaction (loss-of-function), while ΔE1279 enhances it (gain-of-function) and makes it resistant to osmotic, pH, and heat-shock stress. RPGRIP1 isoforms undergo constitutive limited proteolysis in the cytoplasm, generating a stable ~7 kDa N-terminal fragment that relocates to the nucleus, while the cytosolic C-terminal domain is degraded. RID mutations exert cis-acting effects on nuclear relocation and proteolytic cleavage of RPGRIP1. In vivo interaction assays; chemical genetics (osmotic/pH/heat-shock stress treatments); subcellular fractionation; immunostaining; in vitro proteolysis assays Human Molecular Genetics High 15800011
2005 AAV-mediated delivery of RPGRIP1 to RPGRIP1-knockout mouse retina restores normal RPGR localization at the connecting cilia, preserves photoreceptor structure and function (ERG), demonstrating that RPGRIP1 is required to anchor RPGR at the connecting cilium. Subretinal AAV injection in Rpgrip1−/− mice; immunostaining; electroretinography; light and electron microscopy Investigative Ophthalmology & Visual Science High 16123399
2009 RPGRIP1 is essential for rod outer segment (OS) formation. Rpgrip1(nmf247) mice lacking all RPGRIP1 isoforms fail to elaborate rod outer segments entirely, whereas mice lacking only the long splice variant (Rpgrip1(tm1Tili)) show OS disc dysmorphogenesis but do form OS. This indicates different RPGRIP1 isoforms play distinct roles in photoreceptors. Knockout mouse models (Rpgrip1(nmf247) splice-site mutation and Rpgrip1(tm1Tili)); ultrastructural electron microscopy; comparison of two distinct alleles Human Molecular Genetics High 19679561
2010 Human RPGRIP1 expressed from an AAV8 vector in Rpgrip1-knockout mice localizes correctly in the connecting cilia and restores normal RPGR localization, confirming that RPGRIP1 functions to anchor RPGR at the connecting cilium and is required for photoreceptor maintenance. Subretinal AAV8 injection; immunostaining for RPGRIP1 and RPGR localization; electroretinography; histology Human Gene Therapy High 20384479
2011 NEK4 serine/threonine kinase is a component of both the RPGRIP1- and RPGRIP1L-associated protein complexes. NEK4 localizes to basal bodies in ciliated cells and to the ciliary rootlet in ciliated organs. Knockdown of NEK4 decreases cilium assembly, indicating RPGRIP1 acts 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 Medium 21685204
2011 RPGRIP1 disease mutations in the C2 domains (p.R598Q, p.A635G, p.T806I, p.A837G, p.I838V) decrease association of the C2 domains with nephrocystin-4 (NPHP4), as shown by yeast two-hybrid analysis of glaucoma-associated RPGRIP1 variants. Yeast two-hybrid analysis of missense mutations within C2 domains European Journal of Human Genetics Medium 21224891
2011 RPGRIP1 interacts with RPGR through the RID domain which multivalently embraces the RHD shared by RPGR(1-19) and RPGR(ORF15) isoforms. RPGR(1-19) localizes to the endoplasmic reticulum while RPGR(ORF15) has cytosolic distribution, and each determines a distinct subcellular co-localization pattern of RPGRIP1α1. RPGR(ORF15) (but not RPGR(1-19)) protects the RID of RPGRIP1α1 from limited proteolysis. RPGRIP1α1 expressed alone undergoes profuse self-aggregation that is suppressed by co-expression of either RPGR isoform. Molecular modeling; co-expression and co-localization in kidney, photoreceptor, and hepatocyte cell lines; limited proteolysis assay; disease mutation analysis Biology Open Medium 23213406
2012 RPGRIP1 localizes exclusively throughout the photoreceptor connecting cilium (CC) distally to centrin-2 (centriole/basal body marker) and acetylated-α-tubulin. In Rpgrip1(nmf247) mice lacking RPGRIP1, NPHP4 and RPGR are absent from photoreceptor cilia, SDCCAG8 and acetylated-α-tubulin ciliary localization are strongly decreased, and SDCCAG8 and NPHP4 shift to the ER-associated membrane fraction—despite unaffected protein expression levels. These effects are photoreceptor-specific and do not occur in kidney cells of the same mice. Immunofluorescence and ultrastructural analysis in Rpgrip1(nmf247) knockout mice; subcellular fractionation; comparison of photoreceptor vs. kidney cells Cell Death & Disease High 22825473
2010 RPGRIP1 acts as an adaptor linking RPGR to nephrocystin-6 (NPHP6/CEP290), thereby connecting RPGR to the nephronophthisis protein network in zebrafish; truncating mutations of RPGRIP1 (c.1107delA) abolish this interaction. Zebrafish morpholino knockdown; protein interaction assays; mutation analysis Kidney International Medium 20200501
2014 SPATA7 directly interacts with RPGRIP1, and loss of SPATA7 in mice causes a substantial reduction of RPGRIP1 at the connecting cilium (CC) of photoreceptor cells. This leads to mislocalization of rhodopsin to inner segments and perinuclear region, triggering apoptosis of rod photoreceptors. RPGRIP1 and SPATA7 form a protein complex required for stable assembly at the CC and for protein trafficking across the CC. Co-immunoprecipitation (direct interaction); immunofluorescence in Spata7 knockout mice; rhodopsin localization assay; TUNEL apoptosis assay Human Molecular Genetics High 25398945
2017 RPGRIP1 is required for rod outer segment development and ciliary protein trafficking in zebrafish. In rpgrip1 mutant zebrafish, rod outer segments do not form, rhodopsin is mislocalized, and Rab8 (a key regulator of rhodopsin ciliary trafficking) is mislocalized in photoreceptor cells. Zebrafish rpgrip1 nonsense mutant; immunofluorescence for rhodopsin and Rab8 localization; morphological analysis of outer segments Scientific Reports Medium 29203866
2025 In human iPSC-derived retinal organoids with RPGRIP1 mutations, disease biomarkers include CC interactome dysfunction, stress response activation, and proteostasis abnormalities. A missense VUS (c.2108T>C, p.Ile703Thr) causes these same biomarkers, establishing its pathogenicity. RPGRIP1 gene augmentation therapy rescues these disease phenotypes in organoids. iPSC-derived retinal organoids; CC interactome analysis; stress response and proteostasis assays; AAV gene augmentation therapy in organoids Stem Cell Reports Medium 41270749

Source papers

Stage 0 corpus · 54 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 241 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 93 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 78 16272259
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 55 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 42 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 30 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 23 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
2014 A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. Japanese journal of ophthalmology 16 25096270
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
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
2011 Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms. Biology open 12 23213406
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
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 9 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
2023 variant associated with pigmented paravenous chorioretinal atrophy. European journal of ophthalmology 6 36755384
2012 Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation. Stem cells international 6 22550515
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
2024 A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. Genetics in medicine open 2 39669618
2024 Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant. Veterinary ophthalmology 1 39428496
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

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