RPGRIP1

Summary

Gene Symbol: RPGRIP1
Description: retinitis pigmentosa GTPase regulator interacting protein 1
Alias: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d, RPGR-interacting protein 1, X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Species: human

Top Publications

  1. pmc A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund
    Anne Caroline Wiik
    Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, 0033 Oslo, Norway
    Genome Res 18:1415-21. 2008
  2. doi Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan
    Martin McKibbin
    Department of Ophthalmology, St James s University Hospital, Beckett Street, Leeds LS9 7TF, England
    Arch Ophthalmol 128:107-13. 2010
  3. ncbi Identification of preferentially expressed mRNAs in retina and cochlea
    Cecilia Maubaret
    Laboratoire de Neurobiologie de l audition, Plasticité Synaptique 71, rue de Navacelles, 34090 Montpellier, France
    DNA Cell Biol 21:781-91. 2002
  4. doi The RPGRIP1-related retinal phenotype in children
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Br J Ophthalmol 97:760-4. 2013
  5. ncbi Gene therapy progress and prospects: the eye
    J W B Bainbridge
    Division of Molecular Therapy, Institute of Ophthalmology, University College London, London, UK
    Gene Ther 13:1191-7. 2006
  6. ncbi [From gene to disease; Leber congenital amaurosis (LCA)]
    S Yzer
    Het Oogziekenhuis Rotterdam, Rotterdam
    Ned Tijdschr Geneeskd 149:2334-7. 2005
  7. ncbi RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
    P Castagnet
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Hum Mol Genet 12:1847-63. 2003
  8. pmc Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to an RPGRIP1 Mutation
    Kristina Narfstrom
    Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA
    Stem Cells Int 2012:685901. 2012
  9. doi Cystathionine β-synthase deficiency causes infertility by impairing decidualization and gene expression networks in uterus implantation sites
    Mario Nuño-Ayala
    Departamento de Bioquimica y Biologia Molecular y Celular, Facultad de Veterinaria, Instituto de Investigación Sanitaria de Aragón, Universidad de Zaragoza, Zaragoza, Spain
    Physiol Genomics 44:702-16. 2012
  10. pmc Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy
    Keiko Miyadera
    Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom
    PLoS ONE 7:e51598. 2012

Scientific Experts

Detail Information

Publications74

  1. pmc A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund
    Anne Caroline Wiik
    Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, 0033 Oslo, Norway
    Genome Res 18:1415-21. 2008
    ..with nephronophthisis 1 (also known as nephrocystin-1) in the kidney but lacks the domain interacting with RPGRIP1 in retina...
  2. doi Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan
    Martin McKibbin
    Department of Ophthalmology, St James s University Hospital, Beckett Street, Leeds LS9 7TF, England
    Arch Ophthalmol 128:107-13. 2010
    ..To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype...
  3. ncbi Identification of preferentially expressed mRNAs in retina and cochlea
    Cecilia Maubaret
    Laboratoire de Neurobiologie de l audition, Plasticité Synaptique 71, rue de Navacelles, 34090 Montpellier, France
    DNA Cell Biol 21:781-91. 2002
    ..The combined information from expression analysis and chromosomal localization allowed for the identification of potential candidate genes for retinal diseases (CORD8, CORD9) and syndromic blindness/deafness/renal defects...
  4. doi The RPGRIP1-related retinal phenotype in children
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Br J Ophthalmol 97:760-4. 2013
    ..phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood ..
  5. ncbi Gene therapy progress and prospects: the eye
    J W B Bainbridge
    Division of Molecular Therapy, Institute of Ophthalmology, University College London, London, UK
    Gene Ther 13:1191-7. 2006
    ..of gene replacement therapies for retinal degenerations resulting from gene defects in photoreceptor cells (rds, RPGRIP, RS-1) and in retinal pigment epithelial cells (MerTK, RPE65, OA1) using recombinant adeno-associated virus and ..
  6. ncbi [From gene to disease; Leber congenital amaurosis (LCA)]
    S Yzer
    Het Oogziekenhuis Rotterdam, Rotterdam
    Ned Tijdschr Geneeskd 149:2334-7. 2005
    ..Seven genes have been reported to be mutated in LCA patients (AIPL1, CRB1, CRX, GUCY2D, RDH12, RPE65 and RPGRIP1). Each gene is responsible for a fraction of LCA patients...
  7. ncbi RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
    P Castagnet
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Hum Mol Genet 12:1847-63. 2003
    RPGR and RPGRIP1 are molecular partners with vital roles in retinal function. Mutations in RPGR are implicated in heterogeneous retinal phenotypes, while those in RPGRIP1 lead to Leber congenital amaurosis...
  8. pmc Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to an RPGRIP1 Mutation
    Kristina Narfstrom
    Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA
    Stem Cells Int 2012:685901. 2012
    ..in the English Springer Spaniel (ESS) dog have shown that PRA cases are often homozygous for a mutation in the RPGRIP1 gene, the defect also causing human RP, LCA, and cone rod dystrophies...
  9. doi Cystathionine β-synthase deficiency causes infertility by impairing decidualization and gene expression networks in uterus implantation sites
    Mario Nuño-Ayala
    Departamento de Bioquimica y Biologia Molecular y Celular, Facultad de Veterinaria, Instituto de Investigación Sanitaria de Aragón, Universidad de Zaragoza, Zaragoza, Spain
    Physiol Genomics 44:702-16. 2012
    ..We found that changes in expression of Calb1, Ttr, Expi, Inmt, Spink3, Rpgrip1, Krt15, Mt-4, Gzmc, Gzmb, Tdo2, and Afp were important for pregnancy success, since a different regulation in Cbs-..
  10. pmc Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy
    Keiko Miyadera
    Department of Veterinary Medicine, University of Cambridge, Cambridge, United Kingdom
    PLoS ONE 7:e51598. 2012
    Mutations in RPGRIP1 are associated with early onset retinal degenerations in humans and dogs...
  11. pmc Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms
    Hemangi Patil
    Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
    Biol Open 1:140-60. 2012
    Mutations affecting the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) interactome cause syndromic retinal dystrophies...
  12. doi Identification of a novel LCA6 mutation in an Emirati family
    Malika Fakhratova
    Department of Ophthalmology, Dubai Hospital, Dubai Health Authority, Dubai, United Arab Emirates
    Ophthalmic Genet 34:234-7. 2013
    ..To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family...
  13. ncbi Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles
    Jana Zernant
    Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 46:3052-9. 2005
    ..Variants in at least six genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1) have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa (RP)...
  14. pmc Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs
    Tatyana Kuznetsova
    Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 53:5486-501. 2012
    ..1 (cord1) has been previously mapped to CFA15, and a homozygous 44-bp insertion in exon 2 (Ins44) of canine RPGRIP1 (cRPGRIP1(Ins/Ins)) has been associated with the disease...
  15. ncbi An overview of Leber congenital amaurosis: a model to understand human retinal development
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University Health Center, Montreal, Quebec, Canada
    Surv Ophthalmol 49:379-98. 2004
    ..RPE65), phototransduction (GUCY2D), photoreceptor outer segment development (CRX), disk morphogenesis (RPGRIP1), zonula adherens formation (CRB1), and cell-cycle progression (AIPL1)...
  16. pmc Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India
    Periasamy Sundaresan
    Department of Genetics, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, Tamilnadu, India
    Mol Vis 15:1781-7. 2009
    ..To test patients from southern India for the presence of mutations that most commonly cause Leber congenital amaurosis (LCA) in northern America...
  17. pmc Which Leber congenital amaurosis patients are eligible for gene therapy trials?
    Arlene V Drack
    University of Iowa Hospitals and Clinics, Iowa City, 52242, USA
    J AAPOS 13:463-5. 2009
    ..To enroll, subjects must have both disease-causing RPE65 alleles identified. Determining which patients have true disease-causing mutations requires a multistep approach...
  18. ncbi Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
    Elena Vallespin
    Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Invest Ophthalmol Vis Sci 48:5653-61. 2007
    ..This study was a mutational analysis of eight genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, MERTK, and LRAT) in 299 unrelated Spanish families, containing 42 patients with initial diagnosis of LCA: 107 ..
  19. pmc RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
    Jungyeon Won
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 18:4329-39. 2009
    The function of the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene is currently not known...
  20. pmc The RPGRIP1-deficient dog, a promising canine model for gene therapy
    Elsa Lhériteau
    INSERM UMR 649, CHU Hotel Dieu, Nantes, France
    Mol Vis 15:349-61. 2009
    To evaluate the RPGRIP1-deficient miniature longhaired dachshund (MLHD) dog as a potential candidate for gene therapy.
  21. doi LCA5, a rare genetic cause of leber congenital amaurosis in Koreans
    Moon Woo Seong
    Department of Laboratory Medicine, National Cancer Center, Goyang, South Korea
    Ophthalmic Genet 30:54-5. 2009
    ..Recently, LCA5 was identified as a rare genetic cause of LCA. Here, we analyzed the LCA5 gene in 14 LCA patients with no mutation identified in any other known LCA genes and 3 patients with one unclassified missense variant in RPGRIP1.
  22. pmc Mutation survey of known LCA genes and loci in the Saudi Arabian population
    Yumei Li
    Departments of Molecular and Human Genetics
    Invest Ophthalmol Vis Sci 50:1336-43. 2009
    ..The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia...
  23. doi Leber congenital amaurosis: genes, proteins and disease mechanisms
    Anneke I den Hollander
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Prog Retin Eye Res 27:391-419. 2008
    ..defects were identified that are likely to affect intra-photoreceptor ciliary transport processes (CEP290, LCA5, RPGRIP1, TULP1)...
  24. pmc A study of candidate genes for day blindness in the standard wire haired dachshund
    Anne Caroline Wiik
    Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, PO Box 8146 Dep, 0033 Oslo, Norway
    BMC Vet Res 4:23. 2008
    ..Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were selected and evaluated as potential candidate genes associated with day blindness in the breed...
  25. ncbi An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
    Robert H Henderson
    Moorfields Eye Hospital, London, United Kingdom
    Invest Ophthalmol Vis Sci 48:5684-9. 2007
    ..The LCA chip may be used to interrogate many variants in one hybridization reaction. The purpose of this study was to assess the utility of this technology...
  26. pmc Molecular characterization of Leber congenital amaurosis in Koreans
    Moon Woo Seong
    Department of Laboratory Medicine, Seoul National University Hospital and Clinical Research Institute, Seoul, Korea
    Mol Vis 14:1429-36. 2008
    ..We performed a comprehensive mutational analysis on nine known genes in 20 unrelated patients to investigate the genetic cause of LCA in Koreans...
  27. pmc Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
    Keiko Miyadera
    Department of Veterinary Medicine, University of Cambridge, Madingley Road, Cambridge, United Kingdom
    Mol Vis 15:2287-305. 2009
    Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature ..
  28. pmc Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
    Abigail T Fahim
    School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, United States of America
    PLoS ONE 6:e23021. 2011
    ..were genotyped for coding SNPs in 4 candidate modifier genes with products known to interact with RPGR protein: RPGRIP1, RPGRIP1L, CEP290, and IQCB1. Family-based association testing was performed using PLINK...
  29. doi The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
    Karlien L M Coene
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 20:3592-605. 2011
    ..of this study was to gain more insight in the function of two ciliopathy-associated protein homologs, RPGR interacting protein 1 (RPGRIP1) and RPGRIP1-like protein (RPGRIP1L)...
  30. doi Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation
    Claudia Busse
    Animal Health Trust, Kentford, Newmarket, UK
    Vet Ophthalmol 14:146-52. 2011
    To investigate ophthalmic and cone-derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds (MLHD) homozygous for a mutation in the RPGRIP1 gene previously associated with cone-rod dystrophy 1 (cord1).
  31. pmc Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue
    Tatyana Kuznetsova
    Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 52:2989-98. 2011
    To examine the structure and expression of RPGRIP1 in dog retina.
  32. pmc Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma
    Lorena Fernández-Martínez
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Eur J Hum Genet 19:445-51. 2011
    ..of non-synonymous heterozygous variants of the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) with POAG, NTG and JOAG...
  33. doi RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy
    Jutta Hosch
    Department of Ophthalmology, Justus Liebig University Giessen, Giessen, Germany
    Ophthalmic Genet 32:1-11. 2011
    ..RPGR), which is located in the CC, participates in the IFT and interacts with a variety of proteins, including RPGRIP-1, CEP290, NPM, SMC1 and 3 and IFT88...
  34. pmc Structural and functional study of YER067W, a new protein involved in yeast metabolism control and drug resistance
    Tatiana Domitrovic
    Programa de Biologia Molecular e Estrutural, Instituto de Biofisica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil
    PLoS ONE 5:e11163. 2010
    ..YER067W's involvement with aerobic energetic metabolism suggests the assignment of the gene name RGI1, standing for respiratory growth induced 1...
  35. pmc Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis
    Basil S Pawlyk
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Hum Gene Ther 21:993-1004. 2010
    RPGR-interacting protein-1 (RPGRIP1) is localized in the photoreceptor-connecting cilium, where it anchors the RPGR (retinitis pigmentosa GTPase regulator) protein, and its function is essential for photoreceptor maintenance...
  36. doi The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network
    Martin Gerner
    University Hospital Freiburg, Hugstetter Strasse 55, Freiburg, Germany
    Kidney Int 77:891-6. 2010
    ..1107delA) of the interacting protein. Our findings underline the importance of the interplay between the two protein networks, suggesting a phenotypic modulation in both retinitis pigmentosa and nephronophthisis...
  37. pmc RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction
    Carlos A Murga-Zamalloa
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    J Genet 88:399-407. 2009
    ....
  38. doi Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds
    Sandra Brunner
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 51:1106-15. 2010
    ..To establish mouse models for RPGR-associated diseases by generating and characterizing an Rpgr mutation (in-frame deletion of exon 4) in two different genetic backgrounds (BL/6 and BALB/c)...
  39. ncbi Protein networks and complexes in photoreceptor cilia
    Ronald Roepman
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Subcell Biochem 43:209-35. 2007
    ..It further associates through the presumed scaffolding protein RPGRIP1 with the nephrocystin protein network...
  40. pmc Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3
    Richard Guyon
    Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 13:1094-105. 2007
    ..In this study, RPGRIP1, RANBP2, NPM1, PDE6D, NPHP5, and ABCA4 genes were selected on the basis of interaction with RPGR or RPGRIP1 or ..
  41. ncbi RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
    X Shu
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 14:1183-97. 2005
    The ORF15 isoform of RPGR (RPGR(ORF15)) and RPGR interacting protein 1 (RPGRIP1) are mutated in a variety of retinal dystrophies but their functions are poorly understood...
  42. ncbi A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis
    Eduardo Silva
    Molecular and Developmental Biology Laboratory, Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Ophthalmic Genet 25:205-17. 2004
    ..diagnosed with LCA and establish a genotype-phenotype correlation, we screened GUCY2D, RPE65, CRX, AIPL1, and RPGRIP1 for mutations...
  43. ncbi Leber congenital amaurosis: a genetic paradigm
    Rando Allikmets
    Department of Ophthalmology Columbia University Eye Institute Research, Rm 715 630 West 168th Street New York, NY 10032 USA
    Ophthalmic Genet 25:67-79. 2004
    ..Variants in at least six genes, AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1, have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa and together ..
  44. ncbi Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
    Sylvain Hanein
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 23:306-17. 2004
    ..GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%)...
  45. pmc Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
    A Hameed
    J Med Genet 40:616-9. 2003
  46. pmc The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis
    Yun Zhao
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 100:3965-70. 2003
    ..Defects in the retinitis pigmentosa GTPase regulator (RPGR) and an RPGR-interacting protein (RPGRIP) are known causes of retinitis pigmentosa and LCA, respectively...
  47. pmc Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus
    M D Mohamed
    Department of Ophthalmology, St James s University Hospital, Beckett Street, Leeds LS7 7TF, UK
    Br J Ophthalmol 87:473-5. 2003
    ..Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci...
  48. ncbi Identification of a novel protein interacting with RPGR
    J P Boylan
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Hum Mol Genet 9:2085-93. 2000
    A novel protein, called RPGRIP, has been identified as interacting with the RPGR protein, which is mutated in a severe form of human retinal degeneration, X-linked retinitis pigmentosa (RP3 type)...
  49. ncbi Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
    Richard G Weleber
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
    Ophthalmic Genet 23:71-97. 2002
    ..1, RPE65 at 1q31, CRX at 19q13.3, AIPLI at 17p13.1, CRB1 at 1q31-3, and RPGRIP at 14q11...
  50. ncbi Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species
    Timur A Mavlyutov
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    Hum Mol Genet 11:1899-907. 2002
    ..RPGR specifically and directly interacts in vivo and in vitro with retina-specific RPGR-interacting protein 1 (RPGRIP) and that human mutations in RPGR uncouple its interaction with RPGRIP provided the first clue for the retina-..
  51. ncbi Molecular genetics of Leber congenital amaurosis
    Frans P M Cremers
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 11:1169-76. 2002
    ..development (CRX), photoreceptor cell structure (CRB1), phototransduction (GUCY2D), protein trafficking (AIPL1, RPGRIP1), and vitamin A metabolism (RPE65)...
  52. ncbi CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene
    M Danciger
    Jules Stein Eye Institute, Los Angeles, California, USA
    Invest Ophthalmol Vis Sci 42:2458-65. 2001
    ....
  53. ncbi Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    S Gerber
    Unite de Recherches sur les Handicaps Genetiques de l Enfant, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 9:561-71. 2001
    ..namely the neural retina leucine zipper (NRL) and the retinitis pigmentosa GTPase regulator interacting protein (RPGRIP1). No mutation of the NRL gene was found in any of the two families...
  54. pmc Null RPGRIP1 alleles in patients with Leber congenital amaurosis
    T P Dryja
    The Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Am J Hum Genet 68:1295-8. 2001
    ..The newly identified gene, called "RPGRIP1" for RPGR-interacting protein (MIM 605446), is located within 14q11, and it encodes a protein predicted to ..
  55. ncbi Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
    D H Hong
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    J Biol Chem 276:12091-9. 2001
    ..One such protein, designated RPGR-interacting protein (RPGRIP), is expressed specifically in rod and cone photoreceptors...
  56. pmc Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis
    Xinrong Lu
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, 53226, USA
    Hum Mol Genet 14:1327-40. 2005
    ..GTPase regulator (RPGR) protein interacts with the retinitis pigmentosa GTPase regulator interacting protein-1 (RPGRIP1). Genetic lesions in the cognate genes lead to distinct and severe human retinal dystrophies...
  57. pmc Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization
    Xinrong Lu
    Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
    Invest Ophthalmol Vis Sci 46:1882-90. 2005
    Mutations in RPGRIP1 cause Leber congenital amaurosis. The human and bovine RPGRIP1 undergo alternative splicing...
  58. ncbi Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
    Heleen H Arts
    Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, 6500 HB Nijmegen, The Netherlands
    Nat Genet 39:882-8. 2007
    ..However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1-like protein (RPGRIP1L) is a homolog of RPGRIP1 (RPGR-interacting protein 1), a ciliary protein defective in ..
  59. ncbi [Genetic and clinical heterogeneity in LCA patients. The end of uniformity]
    M N Preising
    Abt für Kinderophthalmologie, Strabismologie und Ophthalmogenetik, Klinikum der Universitat Regensburg, 93042, Regensburg
    Ophthalmologe 104:490-8. 2007
    ..Leber congenital amaurosis (LCA) usually describes patients with severely reduced vision due to a retinal dystrophy in early childhood...
  60. pmc Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach
    David F Moore
    Section of Neurology, University of Manitoba, Winnipeg, MB, Canada R3T 2N2
    Proc Natl Acad Sci U S A 104:8065-70. 2007
    ..Alteration of Rpgrip1 ranked highest statistically in all three organs when knockout mice were compared with WT, and its splice ..
  61. ncbi Identification and characterization of a novel RPGR isoform in human retina
    John Neidhardt
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Hum Mutat 28:797-807. 2007
    ..RCC1h) of RPGR and mediates the formation of isoform-specific complexes with the RPGR-interacting protein 1 (RPGRIP1)...
  62. ncbi Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Ophthalmology 114:895-8. 2007
    To determine the treatment potential in Leber congenital amaurosis (LCA) resulting from an RPGRIP1 (retinitis pigmentosa GTPase regulating-interacting protein 1) mutation, a form of LCA with recent gene therapy success in an animal model.
  63. ncbi Upregulation of Mark3 and Rpgrip1 mRNA expression by jujuboside A in mouse hippocampus
    Cheng Wang
    School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu 610054, China
    Acta Pharmacol Sin 28:334-8. 2007
    ..To investigate the effect of jujuboside A (JuA) on modulating gene expression in the hippocampus...
  64. ncbi Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray
    Shigeo Yoshida
    Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Mol Vis 12:1558-64. 2006
    ..To report a novel mutation in the GUCY2D gene in a Japanese family with autosomal dominant cone-rod dystrophy (adCORD), and to examine the possible use of arrayed primer extension (APEX)-based genotyping chip in detecting mutations...
  65. ncbi Proteomic discovery of Max as a novel interacting partner of C/EBPalpha: a Myc/Max/Mad link
    A A Zada
    Bone Marrow Transplantation Unit, State Center for Cell and Gene Therapy, Clinic Internal Medicine IV, Martin Luther University, Halle, Germany
    Leukemia 20:2137-46. 2006
    ..Taken together, our data reveal Max as a novel co-activator of C/EBPalpha functions, thereby suggesting a possible link between C/EBPalpha and Myc-Max-Mad network...
  66. ncbi Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis
    C S Mellersh
    Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK
    Genomics 88:293-301. 2006
    ..2) containing the retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) gene...
  67. ncbi RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University Health Center, Montreal, Canada
    Ophthalmic Genet 26:175-9. 2005
    b>RPGRIP1 encodes the retinitis pigmentosa GTPase interacting protein 1 and interacts with RPGR, the latter represents the major X-linked RP (XRRP) gene, as it accounts for 70-80% of the XRRP patients and up to 13% of all RP patients...
  68. pmc Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
    Ronald Roepman
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 102:18520-5. 2005
    RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator)...
  69. pmc Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
    J C Booij
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Amsterdam, Netherlands
    J Med Genet 42:e67. 2005
    To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
  70. pmc Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms
    Paulo A Ferreira
    Departments of Ophthalmology, Duke University Medical Center, Erwin Road, Durham, NC 27710, USA
    Hum Mol Genet 14:R259-67. 2005
    ..RPGR interacts with the RPGR interacting protein-1 (RPGRIP1). Mutations in RPGRIP1 cause Leber's congenital amaurosis...
  71. ncbi Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
    Basil S Pawlyk
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Invest Ophthalmol Vis Sci 46:3039-45. 2005
    ..regulator (RPGR) is a photoreceptor protein anchored in the connecting cilia by an RPGR-interacting protein (RPGRIP). Loss of RPGRIP causes Leber congenital amaurosis (LCA), a severe form of photoreceptor degeneration...
  72. ncbi Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA
    R K Ozgul
    Department of Molecular Biology, Hacettepe University, Ankara, Turkey
    Eye (Lond) 20:817-9. 2006
    ..Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3, LCA5, and LCA9) to LCA...
  73. ncbi The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
    R Roepman
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 9:2095-105. 2000
    ..Thus, these proteins were named RPGR-interacting protein 1 (RPGRIP1) isoforms...

Research Grants53

  1. MODELS OF PHOTORECEPTOR DISEASE
    Tiansen Li; Fiscal Year: 2007
    ..The proposed research will study RPGR, RPGRIP and Tubby-like proteins, hypothesized to function in the above processes...
  2. Genetic Susceptibility to Age-Related Macular Degeneration
    RANDO L ALLIKMETS; Fiscal Year: 2010
    ....
  3. STRUCTURE/FUNCTION ANALYSIS OF RANBP2 IN THE NEURORETINA
    Paulo Ferreira; Fiscal Year: 2002
    ..What is the function of the remaining primary structural modules of RanBP2? 3. What are the effects of RanBP2 in the physiological production of red- green pigment in photoreceptors? ..
  4. Moleclar Pathogenesis of Retinitis Pigmentosa Type 3
    Paulo Ferreira; Fiscal Year: 2004
    ..Thus, the novel RPGR substrates were designated RPGR interacting proteins (RPGRIPs). Also, the human RPGRIP gene colocalizes with RP16 locus...
  5. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2005
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..
  6. Genetic and Molecular Analyses of Protein Biogenesis in the Neuroretina
    Paulo A Ferreira; Fiscal Year: 2010
    ..The proposal aims at elucidating the role of Ran-binding protein 2 in protein homeostasis and allied pathohysiological states in the retina. ..
  7. Structure-function analysis of RanBP2 in the neuroretina
    Paulo Ferreira; Fiscal Year: 2006
    ..Finally, we will investigate the physiological effects of these components and processes in the pathogenesis of retinal dystrophies. ..
  8. Early-onset retinal degenerations
    Samuel Jacobson; Fiscal Year: 2005
    ....
  9. Genetic and Molecular Dissection of RanBP2-Mediated RanGTPase Functions
    Paulo A Ferreira; Fiscal Year: 2010
    ....
  10. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2009
    ..abstract_text> ..
  11. Gene Modifiers of Retinal Degeneration
    HENRY DANCIGER; Fiscal Year: 2009
    ..This would make therapeutic approaches simpler. ..
  12. Clinical trials of gene therapy for Leber congenital amaurosis
    Samuel Jacobson; Fiscal Year: 2007
    ....
  13. Gene Modifiers of Retinal Degeneration
    HENRY DANCIGER; Fiscal Year: 2007
    ..This would make therapeutic approaches simpler. ..
  14. PATHOGENESIS OF RETINAL DEGENERATIONS
    Samuel Jacobson; Fiscal Year: 2001
    ..The results of this research will lead to the formulation of hypotheses about the underlying molecular events in these diseases and may evolve into recommendations for treatment paradigms in these blinding retinal degenerations. ..
  15. GENE MODIFIERS OF AGE-RELATED & PCD RETINAL DEGENERATION
    HENRY DANCIGER; Fiscal Year: 2004
    ....
  16. Genetic Variation in Age-related Macular Degeneration
    Rando Allikmets; Fiscal Year: 2003
    ..Further, it will enable the accurate identification of at-risk individuals before they develop the disorder, and has the potential to modify or prevent the devastating visual consequences of this disorder in future generations. ..