Genomes and Genes
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
- A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshundAnne 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...
- Genotype-phenotype correlation for leber congenital amaurosis in Northern PakistanMartin 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...
- Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutationsAbigail 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...
- The RPGRIP1-deficient dog, a promising canine model for gene therapyElsa Lhériteau
INSERM UMR 649, CHU Hotel Dieu, Nantes, France
Mol Vis 15:349-61. 2009To evaluate the RPGRIP1-deficient miniature longhaired dachshund (MLHD) dog as a potential candidate for gene therapy.
- LCA5, a rare genetic cause of leber congenital amaurosis in KoreansMoon 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.
- Mutation survey of known LCA genes and loci in the Saudi Arabian populationYumei 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...
- Molecular characterization of Leber congenital amaurosis in KoreansMoon 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...
- Leber congenital amaurosis: genes, proteins and disease mechanismsAnneke 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)...
- A study of candidate genes for day blindness in the standard wire haired dachshundAnne 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...
- An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophyRobert 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...
- Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarrayElena 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 ..
- Protein networks and complexes in photoreceptor ciliaRonald 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...
- Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3Richard 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 ..
- Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeHeleen 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 ..
- [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...
- RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesisJungyeon Won
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 18:4329-39. 2009The function of the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene is currently not known...
- Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern IndiaPeriasamy 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...
- The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinaseKarlien 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)...
- Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutationClaudia Busse
Animal Health Trust, Kentford, Newmarket, UK
Vet Ophthalmol 14:146-52. 2011To 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).
- Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissueTatyana Kuznetsova
Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Invest Ophthalmol Vis Sci 52:2989-98. 2011To examine the structure and expression of RPGRIP1 in dog retina.
- Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaLorena 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...
- RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapyJutta 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...
- Structural and functional study of YER067W, a new protein involved in yeast metabolism control and drug resistanceTatiana 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...
- Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosisBasil 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. 2010RPGR-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...
- The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein networkMartin 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...
- RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunctionCarlos A Murga-Zamalloa
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
J Genet 88:399-407. 2009....
- Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgroundsSandra 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)...
- Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutationKeiko Miyadera
Department of Veterinary Medicine, University of Cambridge, Madingley Road, Cambridge, United Kingdom
Mol Vis 15:2287-305. 2009Previously, 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 ..
- 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...
- Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approachDavid 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 ..
- Identification and characterization of a novel RPGR isoform in human retinaJohn 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)...
- Leber congenital amaurosis: a genetic paradigmRando 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 ..
- Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosisSylvain 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%)...
- Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophyA Hameed
J Med Genet 40:616-9. 2003
- The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesisYun 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...
- Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locusM 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...
- 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...
- Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among speciesTimur 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-..
- Molecular genetics of Leber congenital amaurosisFrans 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)...
- CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate geneM Danciger
Jules Stein Eye Institute, Los Angeles, California, USA
Invest Ophthalmol Vis Sci 42:2458-65. 2001....
- Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS 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...
- Null RPGRIP1 alleles in patients with Leber congenital amaurosisT 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 ..
- Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting ciliumD 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...
- The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptorsR 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...
- A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital AmaurosisEduardo 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...
- RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminX Shu
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Hum Mol Genet 14:1183-97. 2005The 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...
- Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potentialSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Ophthalmology 114:895-8. 2007To 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.
- Upregulation of Mark3 and Rpgrip1 mRNA expression by jujuboside A in mouse hippocampusCheng 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...
- Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarrayShigeo 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...
- Proteomic discovery of Max as a novel interacting partner of C/EBPalpha: a Myc/Max/Mad linkA 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...
- Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosisC 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...
- RPGRIP1 is mutated in Leber congenital amaurosis: a mini-reviewRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University Health Center, Montreal, Canada
Ophthalmic Genet 26:175-9. 2005b>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...
- Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutationsRonald 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. 2005RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase regulator)...
- Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosaJ 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. 2005To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
- Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsPaulo 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...
- Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIPBasil 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...
- Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCAR 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...
- Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationXinrong Lu
Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
Invest Ophthalmol Vis Sci 46:1882-90. 2005Mutations in RPGRIP1 cause Leber congenital amaurosis. The human and bovine RPGRIP1 undergo alternative splicing...
- Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisXinrong 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...
- Identification of a novel protein interacting with RPGRJ P Boylan
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Hum Mol Genet 9:2085-93. 2000A 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)...
- MODELS OF PHOTORECEPTOR DISEASETiansen Li; Fiscal Year: 2007..The proposed research will study RPGR, RPGRIP and Tubby-like proteins, hypothesized to function in the above processes...
- Genetic Susceptibility to Age-Related Macular DegenerationRANDO L ALLIKMETS; Fiscal Year: 2010....
- STRUCTURE/FUNCTION ANALYSIS OF RANBP2 IN THE NEURORETINAPaulo 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? ..
- Moleclar Pathogenesis of Retinitis Pigmentosa Type 3Paulo Ferreira; Fiscal Year: 2004..Thus, the novel RPGR substrates were designated RPGR interacting proteins (RPGRIPs). Also, the human RPGRIP gene colocalizes with RP16 locus...
- Genetic Variation in Age-related Macular DegenerationRando 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. ..
- Genetic and Molecular Analyses of Protein Biogenesis in the NeuroretinaPaulo 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. ..
- Structure-function analysis of RanBP2 in the neuroretinaPaulo Ferreira; Fiscal Year: 2006..Finally, we will investigate the physiological effects of these components and processes in the pathogenesis of retinal dystrophies. ..
- Early-onset retinal degenerationsSamuel Jacobson; Fiscal Year: 2005....
- Genetic and Molecular Dissection of RanBP2-Mediated RanGTPase FunctionsPaulo A Ferreira; Fiscal Year: 2010....
- Genetic Variation in Age-related Macular DegenerationRando Allikmets; Fiscal Year: 2009..abstract_text> ..
- Gene Modifiers of Retinal DegenerationHENRY DANCIGER; Fiscal Year: 2009..This would make therapeutic approaches simpler. ..
- Clinical trials of gene therapy for Leber congenital amaurosisSamuel Jacobson; Fiscal Year: 2007....
- Gene Modifiers of Retinal DegenerationHENRY DANCIGER; Fiscal Year: 2007..This would make therapeutic approaches simpler. ..
- PATHOGENESIS OF RETINAL DEGENERATIONSSamuel 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. ..
- GENE MODIFIERS OF AGE-RELATED & PCD RETINAL DEGENERATIONHENRY DANCIGER; Fiscal Year: 2004....
- Genetic Variation in Age-related Macular DegenerationRando 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. ..