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. pmc 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. pmc Repair of the degenerate retina by photoreceptor transplantation
    Amanda C Barber
    Department of Genetics, University College London Institute of Ophthalmology, London EC1V 9EL, United Kingdom
    Proc Natl Acad Sci U S A 110:354-9. 2013
  9. pmc Bcl-xL-mediated remodeling of rod and cone synaptic mitochondria after postnatal lead exposure: electron microscopy, tomography and oxygen consumption
    Guy A Perkins
    National Center for Microscopy and Imaging Research, University of California San Diego, La Jolla, CA, USA
    Mol Vis 18:3029-48. 2012
  10. pmc Autophagy protects the retina from light-induced degeneration
    Yu Chen
    Department of Pharmacology, Case Western Reserve University, Cleveland, Ohio 44106, USA
    J Biol Chem 288:7506-18. 2013

Research Grants

  1. Genetics of Age-Related Cataracts
    Bo Chang; Fiscal Year: 2007
  2. Eye Mutant Resource
    Bo Chang; Fiscal Year: 2010

Scientific Experts

  • Bo Chang
  • Mélisande Richard
  • Serge A van de Pavert
  • Jan Wijnholds
  • Wendy M Aartsen
  • Mathias W Seeliger
  • Inge Versteeg
  • Anna Malysheva
  • Jan Klooster
  • Jan Meuleman
  • Ning Zhang
  • Tadao Maeda
  • Amanda C Barber
  • Yu Chen
  • Xiangting Chen
  • Osamu Sawada
  • Mary J Mattapallil
  • Guy A Perkins
  • Seo Hee Cho
  • Robin R Ali
  • Ulrich Tepass
  • Anneke I den Hollander
  • Tomas S Aleman
  • J Lakowski
  • M Dominik Fischer
  • Rogier M Vos
  • Susanne C Beck
  • Ilse Gosens
  • Jeffrey D Lee
  • Agnes G S H van Rossum
  • Frans P M Cremers
  • Andre Le Bivic
  • C Jane McGlade
  • Tatsuya Watanabe
  • Adrienne K Mehalow
  • Milena Pellikka
  • Beata Jastrzebska
  • Jelena Kezic
  • Akiko Maeda
  • Krzysztof Palczewski
  • Emma L West
  • Yun Zheng Le
  • Andreas Engel
  • Alexander V Kolesnikov
  • Jane C Sowden
  • Jorn Lakowski
  • Yanai Duran
  • Ulrich F O Luhmann
  • Vladimir J Kefalov
  • Debarshi Mustafi
  • Claude Bernard
  • CARLOS SUBAUSTE
  • Christel Genoud
  • James W B Bainbridge
  • Claire Hippert
  • Rachael A Pearson
  • Hideo Kohno
  • Paul G McMenamin
  • Katherine Warre-Cornish
  • Ji Yun Song
  • Alex Perez
  • Jerry E Johnson
  • Donald A Fox
  • David L Simons
  • Seonhee Kim
  • Eric C Swindell
  • Hui Zhao
  • Rachel R Caspi
  • Samuel M Wu
  • Thomas A Ferguson
  • Mark H Ellisman
  • Chi Chao Chan
  • Julie H Le
  • Eric F Wawrousek
  • Jayeeta Roychoudhury
  • Ray Scott
  • Jin Young Kim
  • Milan Jamrich
  • Alejandro J Roman
  • Frank F Tsai
  • Luk H Vandenberghe
  • Alexander Sumaroka
  • Sharon B Schwartz
  • James M Wilson
  • Geoffrey K Aguirre
  • Peter Bell
  • Cristina L Mullins
  • Melani B Olivares
  • Artur V Cideciyan
  • Edwin M Stone

Detail Information

Publications25

  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. pmc 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.
  3. 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...
  4. 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...
  5. 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)...
  6. 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...
  7. 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...
  8. pmc Repair of the degenerate retina by photoreceptor transplantation
    Amanda C Barber
    Department of Genetics, University College London Institute of Ophthalmology, London EC1V 9EL, United Kingdom
    Proc Natl Acad Sci U S A 110:354-9. 2013
    ..Integration can increase (Prph2(+/Δ307)), decrease (Crb1(rd8/rd8), Gnat1(-/-), Rho(-/-)), or remain constant (PDE6β(rd1/rd1), Prph2(rd2/rd2)) with disease progression, ..
  9. pmc Bcl-xL-mediated remodeling of rod and cone synaptic mitochondria after postnatal lead exposure: electron microscopy, tomography and oxygen consumption
    Guy A Perkins
    National Center for Microscopy and Imaging Research, University of California San Diego, La Jolla, CA, USA
    Mol Vis 18:3029-48. 2012
    ..Thus, our experiments investigated the structural and functional effects of environmentally relevant postnatal lead exposure on rod spherule and cone pedicle mitochondria and whether Bcl-xL overexpression provided neuroprotection...
  10. pmc Autophagy protects the retina from light-induced degeneration
    Yu Chen
    Department of Pharmacology, Case Western Reserve University, Cleveland, Ohio 44106, USA
    J Biol Chem 288:7506-18. 2013
    ..Taken together, these observations provide novel evidence implicating an important role of autophagy and mitophagy in protecting the retina from all-trans-retinal- and light-induced degeneration...
  11. pmc Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization
    Ning Zhang
    Department of Pharmacology, School of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, Ohio 44160, USA
    J Clin Invest 123:121-37. 2013
    ..Additionally, these results suggest that patients heterozygous for the E150K mutation should be periodically reevaluated for delayed-onset retinal degeneration...
  12. pmc The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes
    Mary J Mattapallil
    Laboratory of Immunology, National Eye Institute, Bethesda, Maryland, USA
    Invest Ophthalmol Vis Sci 53:2921-7. 2012
    ..We set out to examine the prevalence of this mutation in induced mutant mouse lines, vendor C57BL/6 mice and in widely used embryonic stem cells...
  13. pmc Survey of common eye diseases in laboratory mouse strains
    Bo Chang
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Invest Ophthalmol Vis Sci 54:4974-81. 2013
    ..These eye diseases are retinal degeneration 1 (Pde6b(rd1)), retinal degeneration 8 (Crb1(rd8)), and cone photoreceptor function loss 3 (Gnat2(cpfl3)).
  14. pmc Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis
    Seo Hee Cho
    Pediatric Research Center, Department of Pediatrics, University of Texas Health Science Center, Houston TX 77030, USA
    Hum Mol Genet 21:2663-76. 2012
    Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by early-onset degenerative retinal dystrophy...
  15. doi Rd8 mutation in the Crb1 gene of CD11c-eYFP transgenic reporter mice results in abnormal numbers of CD11c-positive cells in the retina
    Xiangting Chen
    Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia
    J Neuropathol Exp Neurol 72:782-90. 2013
    ..confirmed that the cause of the retinal dystrophic lesions in CD11c-eYFP transgenic mice was the occurrence of the Crb1(rd8) mutation, which affects all mice of the C57BL/6N strain but not the C57BL/6J strain...
  16. pmc 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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)...
  22. 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...
  23. pmc 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...
  24. pmc 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...
  25. doi 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 ..

Research Grants2

  1. Genetics of Age-Related Cataracts
    Bo Chang; Fiscal Year: 2007
    ..abstract_text> ..
  2. Eye Mutant Resource
    Bo Chang; Fiscal Year: 2010
    ..Further, these models can be used to identify treatment targets and to test therapeutic strategies. The EMR focuses on identifying, characterizing and distributing such models. ..