Crb1

Summary

Gene Symbol: Crb1
Description: crumbs family member 1, photoreceptor morphogenesis associated
Alias: 7530426H14Rik, A930008G09Rik, protein crumbs homolog 1, crumbs homolog 1
Species: mouse

Top Publications

  1. doi Ccl2/Cx3cr1 knockout mice have inner retinal dysfunction but are not an accelerated model of AMD
    Kirstan A Vessey
    Department of Anatomy and Neuroscience, The University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 53:7833-46. 2012
  2. pmc The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors
    Ulrich F O Luhmann
    Department of Genetics and
    Hum Mol Genet 24:128-41. 2015
  3. 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
  4. 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
  5. 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
  6. pmc Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration
    Ulrich F O Luhmann
    Department of Genetics, UCL Institute of Ophthalmology, 11 43 Bath Street, EC1V9EL London, United Kingdom
    Exp Eye Res 107:80-7. 2013
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. Genetics of Age-Related Cataracts
    Bo Chang; Fiscal Year: 2007

Scientific Experts

  • Ulrich F O Luhmann
  • Bogale Aredo
  • Bo Chang
  • Seo Hee Cho
  • Mélisande Richard
  • Jan Wijnholds
  • Kirstan A Vessey
  • Serge A van de Pavert
  • Lucie P Pellissier
  • Mathias W Seeliger
  • Rogier M Vos
  • Nitya Ramkumar
  • Ursula Greferath
  • Kathryn V Anderson
  • Robin R Ali
  • Wendy M Aartsen
  • C Jane McGlade
  • Andre Le Bivic
  • Jacobus J Dudok
  • Claire Hippert
  • Yujuan Wang
  • Amanda C Barber
  • Hideo Kohno
  • Erica L Fletcher
  • Jan Klooster
  • Andrew I Jobling
  • Tadao Maeda
  • Chi Chao Chan
  • Celso Henrique Alves
  • Nancy F Silva-Gagliardi
  • Naoyuki Tanimoto
  • Inge Versteeg
  • Jeffrey D Lee
  • Susanne C Beck
  • Xu Wang
  • Jin Young Kim
  • Samantha J Dando
  • Nori Nagai
  • Bhubanananda Sahu
  • Joseph S Pak
  • Poppy Datta
  • Philipp Herrmann
  • Joaquim Grego-Bessa
  • Jeffrey H Boatright
  • David T Shima
  • Paul G McMenamin
  • Yin Shan Ng
  • Peter Adamson
  • Kanako Izumi-Nagai
  • Daniel Ardeljan
  • Marijana Samardzija
  • Emma L West
  • Ryan P Liegel
  • Mei Chen
  • Erin Flynn
  • Eileen L Whiteman
  • Gloriane Schnabolk
  • Cheng Rong Yu
  • Benjamin E Low
  • Rachael A Pearson
  • James W B Bainbridge
  • DeFen Shen
  • Jingsheng Tuo
  • Yanai Duran
  • Norihiro Nagai
  • Michelle Waugh
  • Vithiyanjali Sothilingam
  • Fabrice Richard
  • Marina Garcia Garrido
  • Anna Malysheva
  • Joanna A Phipps
  • Akiko Maeda
  • Jan Meuleman
  • Tracy Ho
  • Ditte M S Lundvig
  • Xiangting Chen
  • Yu Chen
  • Osamu Sawada
  • Ning Zhang
  • Mary J Mattapallil
  • Guy A Perkins
  • Christian Grimm
  • Joost Verhaagen
  • Gesine Huber
  • Tomas S Aleman
  • Anneke I den Hollander
  • Ulrich Tepass
  • J Lakowski
  • M Dominik Fischer
  • Patsy M Nishina

Detail Information

Publications60

  1. doi Ccl2/Cx3cr1 knockout mice have inner retinal dysfunction but are not an accelerated model of AMD
    Kirstan A Vessey
    Department of Anatomy and Neuroscience, The University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 53:7833-46. 2012
    ..recent reports indicate that this ascribed phenotype is due to the presence of a retinal degeneration mutation (crb1(rd8/rd8), rd8) on the background strain...
  2. pmc The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors
    Ulrich F O Luhmann
    Department of Genetics and
    Hum Mol Genet 24:128-41. 2015
    Understanding phenotype-genotype correlations in retinal degeneration is a major challenge. Mutations in CRB1 lead to a spectrum of autosomal recessive retinal dystrophies with variable phenotypes suggesting the influence of modifying ..
  3. 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...
  4. 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)).
  5. 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, ..
  6. pmc Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration
    Ulrich F O Luhmann
    Department of Genetics, UCL Institute of Ophthalmology, 11 43 Bath Street, EC1V9EL London, United Kingdom
    Exp Eye Res 107:80-7. 2013
    ..All mouse lines are derived from common parental strains and do not carry the homozygous rd8 mutation in the Crb1 gene that has been a major confounding factor in previous reports...
  7. 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...
  8. 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...
  9. 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.
  10. 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...
  11. 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...
  12. 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)...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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)...
  20. pmc Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model
    Bhubanananda Sahu
    Shiley Eye Institute, University of California San Diego, La Jolla, CA
    Mol Vis 21:273-84. 2015
    A spontaneous frameshift mutation, c.3481delC, in the Crb1 gene is the underlying cause of dysplasia and retinal degeneration in rd8 mice. The rd8 mutation is found in C57BL/6N but not in C57BL/6J mouse sub-strains...
  21. pmc Requirement for Microglia for the Maintenance of Synaptic Function and Integrity in the Mature Retina
    Xu Wang
    Unit on Neuron Glia Interactions in Retinal Disease
    J Neurosci 36:2827-42. 2016
    ..Our findings on constitutive microglial function are relevant in understanding microglial contributions to pathology and in the consideration of therapeutic interventions that reduce or perturb constitutive microglial function...
  22. pmc Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome
    Ryan P Liegel
    Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI
    Mol Genet Metab Rep 1:299-311. 2014
    ....
  23. doi A comparative analysis of C57BL/6J and 6N substrains; chemokine/cytokine expression and susceptibility to laser-induced choroidal neovascularization
    Gloriane Schnabolk
    Research Service, Ralph H Johnson VA Medical Center, Charleston, SC 29401, USA
    Exp Eye Res 129:18-23. 2014
    ..In particular, the rd8 mutation of the Crb1 gene present in the C57BL/6N has been shown to impact certain ocular phenotypes and appears to augment phenotypes ..
  24. pmc The role of histamine in the retina: studies on the Hdc knockout mouse
    Ursula Greferath
    Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Victoria, Australia
    PLoS ONE 9:e116025. 2014
    ..discrete lesions across the retina that corresponded to areas of photoreceptor abnormality reminiscent of the rd8 (Crb1) mutation. This was confirmed after genotyping and the strain designated Hdcrd8/rd8...
  25. pmc Differences in the distribution, phenotype and gene expression of subretinal microglia/macrophages in C57BL/6N (Crb1 rd8/rd8) versus C57BL6/J (Crb1 wt/wt) mice
    Bogale Aredo
    Department of Ophthalmology, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390 9057, USA
    J Neuroinflammation 12:6. 2015
    ..Our goal was to study the spatial and temporal distribution, the phenotype, and gene expression of subretinal MG/MΦ in mice with normal retinas and compare them to mice with known retinal pathology...
  26. pmc Methodologies for analysis of patterning in the mouse RPE sheet
    Jeffrey H Boatright
    Department of Ophthalmology, Emory University, Atlanta, GA
    Mol Vis 21:40-60. 2015
    ....
  27. doi Assessment of retinal function and morphology in aging Ccl2 knockout mice
    Kirstan A Vessey
    Department of Anatomy and Neuroscience, University of Melbourne, Melbourne, Australia
    Invest Ophthalmol Vis Sci 56:1238-52. 2015
    ..We sought to correlate changes in retinal pigment epithelium (RPE) and retinal morphology with changes in function in aging Ccl2(-/-) mice...
  28. pmc Morphogenesis of the mouse neural plate depends on distinct roles of cofilin 1 in apical and basal epithelial domains
    Joaquim Grego-Bessa
    Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
    Development 142:1305-14. 2015
    ..The basal accumulation of F-actin is associated with the assembly of ectopic basal tight junctions and focal disruptions of the basement membrane, which eventually lead to a breakdown of epithelial organization...
  29. pmc Müller glia activation in response to inherited retinal degeneration is highly varied and disease-specific
    Claire Hippert
    Department of Genetics, University College London Institute of Ophthalmology, 11 43 Bath Street, London, EC1V 9EL, United Kingdom
    PLoS ONE 10:e0120415. 2015
    ..Together, these results show that gliosis and its associated processes are variable and disease-dependent. ..
  30. pmc Novel CCR3 Antagonists Are Effective Mono- and Combination Inhibitors of Choroidal Neovascular Growth and Vascular Permeability
    Nori Nagai
    Department of Ocular Biology and Therapeutics, University College London Institute of Ophthalmology, London, United Kingdom
    Am J Pathol 185:2534-49. 2015
    ..The findings also demonstrate that systemic exposure to CCR3 antagonists may be crucial for CNV-targeted activity. ..
  31. doi A case of mistaken identity: CD11c-eYFP(+) cells in the normal mouse brain parenchyma and neural retina display the phenotype of microglia, not dendritic cells
    Samantha J Dando
    Department of Anatomy and Developmental Biology and Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia
    Glia 64:1331-49. 2016
    ..We previously showed that these mice carry the Crb1(rd8) mutation, which causes retinal dystrophic lesions; therefore we hypothesized that the presence of CD11c-eYFP(+)..
  32. pmc Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome
    Poppy Datta
    Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242
    Proc Natl Acad Sci U S A 112:E4400-9. 2015
    ..Our data also suggest that a major function of BBS proteins in photoreceptors is to transport proteins from the OS to the cell body or to prevent entry of non-OS proteins into the OS. ..
  33. doi Cd59a deficiency in mice leads to preferential innate immune activation in the retinal pigment epithelium-choroid with age
    Philipp Herrmann
    Department of Genetics, UCL Institute of Ophthalmology, London, UK
    Neurobiol Aging 36:2637-48. 2015
    ..This data emphasizes the particular vulnerability of the RPE-choroidal complex to dysregulation of the alternative complement pathway during aging...
  34. doi Crumbs 2 prevents cortical abnormalities in mouse dorsal telencephalon
    Jacobus J Dudok
    Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    Neurosci Res 108:12-23. 2016
    ..We examined the physiological function of Crb2 on wild type genetic background as well as on background lacking Crb1. Telencephalon lacking CRB2 resulted in reduced levels of PALS1 and CRB3 from the apical complex, an increased ..
  35. pmc Yap is essential for retinal progenitor cell cycle progression and RPE cell fate acquisition in the developing mouse eye
    Jin Young Kim
    Shriners Hospitals Pediatric Research Center Center for Neural Repair and Rehabilitation and Department of Anatomy and Cell Biology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140, United States
    Dev Biol 419:336-347. 2016
    ....
  36. pmc Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2
    Nitya Ramkumar
    Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America Program in Biochemistry and Structural Biology, Cell and Developmental Biology, and Molecular Biology, Weill Cornell Graduate School of Medical Sciences, Cornell University, New York, New York, United States of America
    PLoS Genet 11:e1005551. 2015
    ....
  37. pmc Crumbs2 promotes cell ingression during the epithelial-to-mesenchymal transition at gastrulation
    Nitya Ramkumar
    Developmental Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, New York 10065, USA
    Nat Cell Biol 18:1281-1291. 2016
    ....
  38. pmc The retinal phenotype of Grk1-/- is compromised by a Crb1 rd8 mutation
    Joseph S Pak
    Mary D Allen Laboratory for Vision Research, USC Eye Institute, Departments of Ophthalmology and Cell and Neurobiology, Keck School of Medicine of the University of Southern California, Los Angeles, CA
    Mol Vis 21:1281-94. 2015
    ..One of these strains, the commonly used C57BL/6N (B6N), was discovered to carry a point mutation in the Crumbs homolog 1 (Crb1(rd8) ) gene, which codes for a developmental protein involved in tight junction formation at the outer ..
  39. pmc Fundus autofluorescence and photoreceptor cell rosettes in mouse models
    Erin Flynn
    Department of Ophthalmology, Columbia University, New York, New York, United States
    Invest Ophthalmol Vis Sci 55:5643-52. 2014
    ..This study was conducted to study correlations among fundus autofluorescence (AF), RPE lipofuscin accumulation, and photoreceptor cell degeneration and to investigate the structural basis of fundus AF spots...
  40. pmc Crumbs3 is essential for proper epithelial development and viability
    Eileen L Whiteman
    Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA
    Mol Cell Biol 34:43-56. 2014
    ..Taken together, our data indicate that Crumbs3 is crucial for epithelial morphogenesis and plays a role in linking the apical membrane to the underlying ezrin-containing cytoskeleton. ..
  41. pmc Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background
    Celso Henrique Alves
    Department of Neuromedical Genetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    PLoS ONE 8:e82532. 2013
    In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis...
  42. pmc Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis
    Lucie P Pellissier
    Department of Neuromedical Genetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences KNAW, Amsterdam, The Netherlands
    PLoS Genet 9:e1003976. 2013
    ..Here, we report that ablation of Crb1 and Crb2 genes results in severe impairment of retinal function, abnormal lamination and thickening of the retina ..
  43. pmc Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair
    Benjamin E Low
    The Jackson Laboratory, Bar Harbor, Maine
    Invest Ophthalmol Vis Sci 55:387-95. 2014
    We directly corrected the mouse Crb1(rd8) gene mutation, which is present in many inbred laboratory strains derived from C57BL/6N and complicates genetic studies of retinal disease in mice.
  44. doi CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice
    Lucie P Pellissier
    Department of Neuromedical Genetics
    Hum Mol Genet 23:3759-71. 2014
    Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital amaurosis (LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or loss of adhesion between photoreceptors and Müller glia cells, ..
  45. pmc RAGE regulates immune cell infiltration and angiogenesis in choroidal neovascularization
    Mei Chen
    Centre for Experimental Medicine, Queen s University of Belfast, Belfast, United Kingdom
    PLoS ONE 9:e89548. 2014
    ..This study has investigated if RAGE plays a role in immune cell mobilization and choroidal neovascular pathology that is associated with the neovascular form of age-related macular degeneration (nvAMD)...
  46. pmc CCL3 production by microglial cells modulates disease severity in murine models of retinal degeneration
    Hideo Kohno
    Department of Pharmacology, Case Western Reserve University, Cleveland, OH 44106
    J Immunol 192:3816-27. 2014
    ..Taken together, our results indicate that Ccl3 has an essential role in regulating the severity of retinal inflammation and degeneration in these mouse models. ..
  47. pmc Platelet-derived growth factor (PDGF)-C inhibits neuroretinal apoptosis in a murine model of focal retinal degeneration
    Yujuan Wang
    1 Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD, USA 2 State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Lab Invest 94:674-82. 2014
    ..survival and antiapoptotic effects of PDGF-C on focal retinal lesions in Ccl2(-/-)/Cx3cr1(-/-) on C57BL/6N [Crb1(rd8)] (DKO rd8) background mice, a model for progressive and focal retinal degeneration...
  48. pmc Interleukin-17 retinotoxicity is prevented by gene transfer of a soluble interleukin-17 receptor acting as a cytokine blocker: implications for age-related macular degeneration
    Daniel Ardeljan
    Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America School of Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America
    PLoS ONE 9:e95900. 2014
    ..This intervention rescues RPE and photoreceptors in a MAPK-dependent process. The IL17 pathway plays a key role in RPE and photoreceptor degeneration and could hold therapeutic potential in AMD. ..
  49. pmc Spontaneous CNV in a novel mutant mouse is associated with early VEGF-A-driven angiogenesis and late-stage focal edema, neural cell loss, and dysfunction
    Norihiro Nagai
    Department of Ocular Biology and Therapeutics, University College London, Institute of Ophthalmology, London, United Kingdom
    Invest Ophthalmol Vis Sci 55:3709-19. 2014
    ..Characterization of a mouse model of spontaneous choroidal neovascularization (sCNV) and its effect on retinal architecture and function...
  50. doi A mouse model for studying cone photoreceptor pathologies
    Marijana Samardzija
    Laboratory for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Schlieren, Switzerland
    Invest Ophthalmol Vis Sci 55:5304-13. 2014
    ..To develop a model with a functional all-cone retina that is morphologically well structured, we generated R91W;Nrl(-/-) double-mutant mice, which express a hypomorphic Rpe65 allele (R91W)...
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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 ..
  57. 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...
  58. 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...
  59. 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...

Research Grants1

  1. Genetics of Age-Related Cataracts
    Bo Chang; Fiscal Year: 2007
    ..abstract_text> ..