Crb1

Summary

Gene Symbol: Crb1
Description: crumbs homolog 1 (Drosophila)
Alias: 7530426H14Rik, A930008G09Rik, protein crumbs homolog 1
Species: mouse

Top Publications

  1. ncbi CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
    Adrienne K Mehalow
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:2179-89. 2003
  2. ncbi A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1
    Serge A van de Pavert
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, 1105 BA Amsterdam, The Netherlands
    J Neurosci 27:564-73. 2007
  3. ncbi Crb1 is a determinant of retinal apical Müller glia cell features
    Serge A van de Pavert
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Glia 55:1486-97. 2007
  4. ncbi Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells
    Agnes G S H van Rossum
    Department of Neuromedical Genetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Hum Mol Genet 15:2659-72. 2006
  5. ncbi Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure
    Serge A van de Pavert
    The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    J Cell Sci 117:4169-77. 2004
  6. ncbi Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
    A I den Hollander
    Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 10, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Genet 23:217-21. 1999
  7. ncbi Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography
    M Dominik Fischer
    Division of Ocular Neurodegeneration, Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 4:e7507. 2009
  8. ncbi GFAP-driven GFP expression in activated mouse Müller glial cells aligning retinal blood vessels following intravitreal injection of AAV2/6 vectors
    Wendy M Aartsen
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    PLoS ONE 5:e12387. 2010
  9. ncbi Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells
    J Lakowski
    Developmental Biology Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK
    Hum Mol Genet 19:4545-59. 2010
  10. ncbi Composition and function of the Crumbs protein complex in the mammalian retina
    Ilse Gosens
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Exp Eye Res 86:713-26. 2008

Scientific Experts

  • B Chang
  • Mélisande Richard
  • Serge A van de Pavert
  • Jan Wijnholds
  • Wendy M Aartsen
  • Mathias W Seeliger
  • Inge Versteeg
  • Anna Malysheva
  • Jan Klooster
  • Jan Meuleman
  • Tomas S Aleman
  • Ulrich Tepass
  • Anneke I den Hollander
  • J Lakowski
  • M Dominik Fischer
  • Rogier M Vos
  • Ilse Gosens
  • Susanne C Beck
  • Jeffrey D Lee
  • Agnes G S H van Rossum
  • Andre Le Bivic
  • Frans P M Cremers
  • C Jane McGlade
  • Tatsuya Watanabe
  • Adrienne K Mehalow
  • Milena Pellikka
  • Frank F Tsai
  • Peter Bell
  • Artur V Cideciyan
  • Edwin M Stone
  • Samuel G Jacobson
  • Alejandro J Roman
  • Alexander Sumaroka
  • Sharon B Schwartz
  • Melani B Olivares
  • Wei Chieh Huang
  • Cristina L Mullins
  • Maria P Limberis
  • Luk H Vandenberghe
  • James M Wilson
  • Geoffrey K Aguirre
  • Koen W R van Cleef
  • Lucie P Pellissier
  • J Bainbridge
  • Bas Blits
  • Robert M Hoek
  • M Baron
  • Kamaljit S Balaggan
  • R A Pearson
  • Joost Verhaagen
  • R R Ali
  • J C Sowden
  • A C Barber
  • Erich M E Ehlert
  • Robin R Ali
  • Rod Bremner
  • Edda Fahl
  • Naoyuki Tanimoto
  • Andreas Wenzel
  • Christian Grimm
  • Charlotte E Reme
  • Regine Muehlfriedel
  • Gesine Huber
  • Marek Pacal
  • Ronald Roepman
  • A I den Hollander
  • Felix Tonagel
  • Alicia Sanz Sanz
  • Willem Kamphuis
  • Nancy F Silva-Gagliardi
  • Chris J McCabe
  • Kathryn V Anderson
  • Jean Pierre Arsanto
  • Jean-Pierre Arsanto
  • Penny Rashbass
  • Seiji Miyatani
  • Shizuko Kobayashi
  • Sylvia Geiger
  • Yoji Ikawa
  • Albena Kantardzhieva
  • Christiaan Levelt
  • Iyoko Katoh
  • James M Denegre
  • Lesley Bechtold
  • Jurgen K Naggert
  • Richard S Smith
  • Patsy M Nishina
  • Neena B Haider
  • Shuhei Kameya
  • James A Young

Detail Information

Publications17

  1. ncbi CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
    Adrienne K Mehalow
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:2179-89. 2003
    Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis...
  2. ncbi A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1
    Serge A van de Pavert
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, 1105 BA Amsterdam, The Netherlands
    J Neurosci 27:564-73. 2007
    Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e.g...
  3. ncbi Crb1 is a determinant of retinal apical Müller glia cell features
    Serge A van de Pavert
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Glia 55:1486-97. 2007
    Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal blinding diseases, such as Leber congenital amaurosis and retinitis pigmentosa...
  4. ncbi Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells
    Agnes G S H van Rossum
    Department of Neuromedical Genetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Hum Mol Genet 15:2659-72. 2006
    Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal diseases including Leber's congenital amaurosis (LCA) and retinitis pigmentosa type 12...
  5. ncbi Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure
    Serge A van de Pavert
    The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    J Cell Sci 117:4169-77. 2004
    Loss of Crumbs homologue 1 (CRB1) function causes either the eye disease Leber congenital amaurosis or progressive retinitis pigmentosa, depending on the amount of residual CRB1 activity and the genetic background...
  6. ncbi Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
    A I den Hollander
    Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 10, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Genet 23:217-21. 1999
    ..This protein is homologous to the Drosophila melanogaster protein crumbs (CRB), and denoted CRB1 (crumbs homologue 1)...
  7. ncbi Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography
    M Dominik Fischer
    Division of Ocular Neurodegeneration, Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 4:e7507. 2009
    ..Optical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration...
  8. ncbi GFAP-driven GFP expression in activated mouse Müller glial cells aligning retinal blood vessels following intravitreal injection of AAV2/6 vectors
    Wendy M Aartsen
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    PLoS ONE 5:e12387. 2010
    ..Because activated Müller glial cells span the entire retina and align areas of injury, they are ideal targets for therapeutic strategies, including gene therapy...
  9. ncbi Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells
    J Lakowski
    Developmental Biology Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK
    Hum Mol Genet 19:4545-59. 2010
    ..transplantation into the wild-type and degenerating retina of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e(-/-) mouse...
  10. ncbi Composition and function of the Crumbs protein complex in the mammalian retina
    Ilse Gosens
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Exp Eye Res 86:713-26. 2008
    ..Mutations in the gene encoding human CRB1, the first one identified out of the three human orthologs, have been associated with a number of retinal ..
  11. ncbi The FERM protein Epb4.1l5 is required for organization of the neural plate and for the epithelial-mesenchymal transition at the primitive streak of the mouse embryo
    Jeffrey D Lee
    Developmental Biology Program, Sloan Kettering Institute, 1275 York Avenue, New York, NY 10021, USA
    Development 134:2007-16. 2007
    ..We propose that mouse Lulu (Epb4.1l5) helps anchor the actin-myosin contractile machinery to the membrane to allow the dynamic rearrangements of epithelia that mediate embryonic morphogenesis...
  12. ncbi Towards understanding CRUMBS function in retinal dystrophies
    Mélisande Richard
    Institut fur Genetik, Heinrich Heine Universitat Dusseldorf, Universitatsstrasse 1, 40225 Dusseldorf, Germany
    Hum Mol Genet 15:R235-43. 2006
    Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenital amaurosis (arLCA)...
  13. ncbi Expression of a novel secretory form (Crb1s) of mouse Crumbs homologue Crb1 in skin development
    Tatsuya Watanabe
    Department of Molecular Physiology, Kyoritsu University of Pharmacy, 1 5 30 Shiba koen, Minatoku, Tokyo 105 8512, Japan
    Biochem Biophys Res Commun 313:263-70. 2004
    ..We cloned a novel variant of mouse Crb1 and termed it Crb1s...
  14. ncbi Retinal degeneration mutants in the mouse
    B Chang
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, USA
    Vision Res 42:517-25. 2002
    ..cpfl1 mice may provide a model for congenital achromatopsia in humans...
  15. ncbi Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
    Milena Pellikka
    Department of Zoology, University of Toronto, Toronto, Ontario M5S 3G5, Canada
    Nature 416:143-9. 2002
    ..Loss-of-function mutations in the human homologue of Crumbs, CRB1 (RP12), cause recessive retinal dystrophies, including retinitis pigmentosa...
  16. ncbi Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
    Anneke I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Mech Dev 110:203-7. 2002
    Mutations in the human Crumbs homologue 1 (CRB1) gene cause severe retinal dystrophies. CRB1 is homologous to Drosophila Crumbs, a protein essential for establishing and maintaining epithelial polarity...
  17. ncbi Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model
    Tomas S Aleman
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 52:6898-910. 2011
    To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse.