NYX

Summary

Gene Symbol: NYX
Description: nyctalopin
Alias: CLRP, CSNB1, CSNB1A, CSNB4, NBM1, leucine-rich repeat protein
Species: human

Top Publications

  1. ncbi Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness
    Naheed W Khan
    National Eye Institute, Bldg 31 Room 6A03, 31 Center Drive, MSC 2510, Bethesda, MD 20892 2110, USA
    J Neurophysiol 93:481-92. 2005
  2. ncbi The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    C M Pusch
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Nat Genet 26:324-7. 2000
  3. ncbi CSNB1 in Chinese families associated with novel mutations in NYX
    Xueshan Xiao
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, PR China
    J Hum Genet 51:634-40. 2006
  4. ncbi Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Nat Genet 26:319-23. 2000
  5. ncbi Mutations in the CACNA1F and NYX genes in British CSNBX families
    Ilaria Zito
    Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK
    Hum Mutat 21:169. 2003
  6. ncbi Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Mol Vis 11:179-83. 2005
  7. ncbi Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene
    Felix K Jacobi
    Molekulargenetisches Labor Universitäts Augenklinik, Tubingen, Germany
    Graefes Arch Clin Exp Ophthalmol 240:822-8. 2002
  8. ncbi Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
    Arch Ophthalmol 107:1170-9. 1989
  9. ncbi Structural macromolecules and supramolecular organisation of the vitreous gel
    P N Bishop
    Research Group in Eye and Vision Science, The Medical School and Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, UK
    Prog Retin Eye Res 19:323-44. 2000
  10. ncbi Blue-on-yellow perimetry in the complete type of congenital stationary night blindness
    H Terasaki
    Department of Ophthalmology, Nagoya University School of Medicine, Japan
    Invest Ophthalmol Vis Sci 40:2761-4. 1999

Detail Information

Publications143 found, 100 shown here

  1. ncbi Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness
    Naheed W Khan
    National Eye Institute, Bldg 31 Room 6A03, 31 Center Drive, MSC 2510, Bethesda, MD 20892 2110, USA
    J Neurophysiol 93:481-92. 2005
    Retinal on-pathway dysfunction is implicated in human complete-type congenital stationary night blindness (CSNB1), a Mendelian genetic condition that results from mutations in the NYX gene encoding the protein nyctalopin...
  2. ncbi The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    C M Pusch
    Molekulargenetisches Labor, Universitats Augenklinik, Tubingen, Germany
    Nat Genet 26:324-7. 2000
    ..can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form. The CSNB1 locus has been mapped to a 5-cM linkage interval in Xp11.4 (refs 2,5-7)...
  3. ncbi CSNB1 in Chinese families associated with novel mutations in NYX
    Xueshan Xiao
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, PR China
    J Hum Genet 51:634-40. 2006
    ..Here, two Chinese families with the complete form of CSNB (CSNB1) are presented. Linkage analysis of one family mapped the disease to Xp11-Xq13 where NYX is located...
  4. ncbi Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    N T Bech-Hansen
    Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada
    Nat Genet 26:319-23. 2000
    ..Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref...
  5. ncbi Mutations in the CACNA1F and NYX genes in British CSNBX families
    Ilaria Zito
    Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK
    Hum Mutat 21:169. 2003
    ..Two causative genes (CACNA1F and NYX) for CSNBX have now been identified through positional cloning strategies...
  6. ncbi Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Mol Vis 11:179-83. 2005
    ..To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients...
  7. ncbi Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene
    Felix K Jacobi
    Molekulargenetisches Labor Universitäts Augenklinik, Tubingen, Germany
    Graefes Arch Clin Exp Ophthalmol 240:822-8. 2002
    To describe the clinical phenotype of the complete type of X-linked congenital stationary night blindness (CSNB1) with different types of mutations in the NYX gene.
  8. ncbi Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
    Arch Ophthalmol 107:1170-9. 1989
    ..We also recommend that the gene symbols CSNB1 and CSNB2 be used for complete congenital stationary night blindness and Aland disease, respectively.
  9. ncbi Structural macromolecules and supramolecular organisation of the vitreous gel
    P N Bishop
    Research Group in Eye and Vision Science, The Medical School and Wellcome Trust Centre for Cell Matrix Research, School of Biological Sciences, University of Manchester, UK
    Prog Retin Eye Res 19:323-44. 2000
    ....
  10. ncbi Blue-on-yellow perimetry in the complete type of congenital stationary night blindness
    H Terasaki
    Department of Ophthalmology, Nagoya University School of Medicine, Japan
    Invest Ophthalmol Vis Sci 40:2761-4. 1999
    To resolve the discrepancy between nonrecordable full-field short wavelength cone electroretinograms (S-cone ERGs) and the presence of normal color vision in patients with the complete type of congenital stationary night blindness (CSNB1).
  11. ncbi Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness
    Keith Bradshaw
    Ophthalmology Department, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    Doc Ophthalmol 107:155-64. 2003
    STRs and dark-adapted ERGs were recorded in nine normal subjects, nine patients with XLRS, 11 patients with CSNB1 and one patient with CSNB2...
  12. ncbi UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2
    O Brandau
    Abteilung für Medizinische Genetik, Kinderpoliklinik der Universität, Munchen, Germany
    Eur J Hum Genet 6:459-66. 1998
    ..Evaluation of patients revealed no UHX1 mutations using SSCP (10 CSNB1 and 20 XLRP) or deletion screening with cDNA hybridisation (13 CSNB1 and 43 XLRP)...
  13. ncbi Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosome
    S I Candille
    Department of Biochemistry and Molecular Biology, University of Louisville, Kentucky 40202, USA
    Invest Ophthalmol Vis Sci 40:2748-51. 1999
    ..To determine the position on the X chromosome of the gene responsible for a spontaneous mouse mutation, nob (no b-wave), which matches the phenotype of complete X-linked congenital stationary night blindness (CSNB) type 1 in human...
  14. pmc Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness
    Ronald G Gregg
    Department of Biochemistry and Molecular Biology, University of Louisville, KY 40202, USA
    J Neurophysiol 98:3023-33. 2007
    Mutations in the NYX gene that encodes the protein nyctalopin cause congenital stationary night blindness type 1...
  15. ncbi Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene
    H P Scholl
    Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital Tubingen, Germany
    Invest Ophthalmol Vis Sci 42:2728-36. 2001
    To study the slow and fast rod signals of the scotopic 15-Hz flicker ERG in patients carrying mutations in the NYX gene, which has been recently identified as the cause of the complete form of congenital stationary night blindness, CSNB1.
  16. pmc TRPM1 mutations are associated with the complete form of congenital stationary night blindness
    Makoto Nakamura
    Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Mol Vis 16:425-37. 2010
    ..To identify human transient receptor potential cation channel, subfamily M, member 1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB)...
  17. doi Nystagmus characteristics in congenital stationary night blindness (CSNB)
    C Pieh
    University of Freiburg, Department of Ophthalmology, Killianstrasse 5, 79100 Freiburg, Germany
    Br J Ophthalmol 92:236-40. 2008
    ..To analyse nystagmus characteristics in patients with congenital stationary night blindness (CSNB) for differentiation from other forms of early childhood nystagmus...
  18. pmc Postreceptoral contributions to the light-adapted ERG of mice lacking b-waves
    Suguru Shirato
    University of Houston College of Optometry, 4901 Calhoun Road, 505 J Davis Armistead Bldg, Houston, TX 77204 2020, USA
    Exp Eye Res 86:914-28. 2008
    ..to the light-adapted ERG of the Nob mouse, a model for complete-type congenital stationary night blindness (CSNB1) that lacks a b-wave from depolarizing bipolar cells...
  19. ncbi Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick
    N Torben Bech-Hansen
    Department of Medical Genetics, Population Genomics Research Group, Faculty of Medicine, University of Calgary, 3330 Hospital Drive, N W, Calgary, Alberta, T2N 4N1, Canada
    Mamm Genome 16:815-24. 2005
    ..ortholog of nyctalopin (NYX), the gene responsible for X-linked complete congenital stationary night blindness (CSNB1, also known as cCSNB). Chick Nyx (cNyx) comprises four exons spanning approximately 6...
  20. ncbi Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 46:4328-35. 2005
    ..Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB...
  21. ncbi Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
    C Rozzo
    Istituto di Genetica Molecolare, CNR, Alghero, Italy
    Eur J Hum Genet 7:574-8. 1999
    ..retinal disorder, which can appear in two different clinical forms, complete and incomplete, associated with CSNB1 and CSNB2 loci on Xp...
  22. ncbi Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis
    Marc J Abramowicz
    Service de Genetique Medicale, Hôpital Erasme and Laboratoire de Génétique Médicale ULB, Brussels, Belgium
    Am J Med Genet A 132:76-9. 2005
    ..CSNB is usually transmitted as a monogenic trait, and most familial cases result from mutations of the NYX gene located on the X chromosome...
  23. ncbi A potential spontaneous rat model of X-linked congenital stationary night blindness
    Zuoming Zhang
    Department of Clinical Aerospace Medicine, The Fourth Military Medical University, Xi an, PR China
    Doc Ophthalmol 107:53-7. 2003
    ..To describe a possible spontaneous rat model of X-linked congenital stationary night blindness (CSNB)...
  24. doi Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness
    Donald Beqollari
    Department of Pharmacology and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
    Mol Pharmacol 76:992-7. 2009
    ..Mutations in this gene have been implicated in the development of congenital stationary night blindness type 1 (CSNB1)...
  25. pmc Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
    Zheng Li
    University College London UCL Institute of Ophthalmology, London EC1V 9EL, UK
    Am J Hum Genet 85:711-9. 2009
    ..In humans, mutations in NYX and GRM6 have been shown to cause the condition...
  26. doi Genotyping microarray for CSNB-associated genes
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Invest Ophthalmol Vis Sci 50:5919-26. 2009
    ....
  27. doi Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathy
    Keith Bradshaw
    Vision Science, Ophthalmology Department, Addenbrooke s Hospital, Cambridge, UK
    Vision Res 50:2505-14. 2010
    ..Conversely, the OFF-response was normal in CSNB1 but the a-wave did not increase in the dark...
  28. ncbi Differential adherence of osteoarthritis and rheumatoid arthritis synovial fibroblasts to cartilage and bone matrix proteins and its implication for osteoarthritis pathogenesis
    J Schedel
    Department of Internal Medicine I, Division of Rheumatology and Clinical Immunology, University Hospital of Regensburg, Regensburg, Germany
    Scand J Immunol 60:514-23. 2004
    ..g. integrins: collagen/integrin alpha(2)beta(1)) and that higher numbers of OA-SF adhered to the cartilage and bone matrix proteins than did RA-SF...
  29. ncbi Retrospective evaluation of 131I deposition density and thyroid dose in Poland after the Chernobyl accident
    Zofia Pietrzak-Flis
    Central Laboratory for Radiological Protection, Department of Radiation Hygiene, Ul Kowaliowa 7, 03 194 Warsaw, Poland
    Health Phys 84:698-708. 2003
    ..doses from 131I were evaluated for 5-y-old children, 10-y-old children, and adults using the computer model CLRP for the situations with and without countermeasures including iodine prophylaxis...
  30. pmc Molecular characterization and cellular localization of TpLRR, a processed leucine-rich repeat protein of Treponema pallidum, the syphilis spirochete
    D V Shevchenko
    Department of Internal Medicine, U T Southwestern Medical Center at Dallas, Texas 75235, USA
    J Bacteriol 179:3188-95. 1997
    ..The function(s) of TpLRR is currently unknown; however, protein-protein and/or protein-lipid interactions mediated by its LRR motifs may facilitate interactions between components of the T. pallidum cell envelope...
  31. pmc The C-terminal tail of Yersinia pseudotuberculosis YopM is critical for interacting with RSK1 and for virulence
    Melissa W McCoy
    Department of Molecular Biology and Microbiology, Tufts University, Boston, Massachusetts 02111, USA
    Infect Immun 78:2584-98. 2010
    ..Decreases in NK cells after Y. pseudotuberculosis infection did not correlate with YopM expression. In conclusion, the C terminus of YopM is essential for RSK1 interactions and for virulence...
  32. ncbi Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection
    J S Friedman
    Department of Ophthalmology, University of Alberta, Edmonton, Canada
    Invest Ophthalmol Vis Sci 41:2059-66. 2000
    ..To identify and characterize genes expressed in the iris...
  33. ncbi Complement inhibitor C4b-binding protein interacts directly with small glycoproteins of the extracellular matrix
    Kaisa E Happonen
    Department of Laboratory Medicine, Wallenberg Laboratory, University Hospital Malmo, Lund University, Malmo, Sweden
    J Immunol 182:1518-25. 2009
    ....
  34. pmc The CRL2LRR-1 ubiquitin ligase regulates cell cycle progression during C. elegans development
    Jorge Merlet
    Institut Jacques Monod, CNRS, Universite Paris Diderot, Bâtiment Buffon 15 rue Hélène Brion, 75205 Paris Cedex 13, France
    Development 137:3857-66. 2010
    ..Collectively, these observations highlight a crucial function of the CRL2(LRR-1) complex in genome stability via maintenance of DNA replication integrity during C. elegans development...
  35. ncbi FBXL16 is a novel E2F1-regulated gene commonly upregulated in p16INK4A- and p14ARF-silenced HeLa cells
    Kazuyuki Sato
    Department of Life Sciences, Faculty of Agriculture, Meiji University, Tama ku, Kawasaki, Kanagawa 214 8571, Japan
    Int J Oncol 36:479-90. 2010
    ..Together, our results illustrate a unique aspect of the interdependence between the p16INK4A/pRb/E2F1 and p14ARF/p53 pathways at a molecular level...
  36. doi Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoospores
    Reena D Narayan
    Plant Science Division, Research School of Biology, The Australian National University, Canberra, ACT 2601, Australia
    Fungal Genet Biol 47:663-71. 2010
    ..Our observations indicate that zoospore motility is not required for zoospore release from P. nicotianae sporangia or for breakage of the evanescent vesicle into which zoospores are initially discharged...
  37. ncbi Tannerella forsythia-induced alveolar bone loss in mice involves leucine-rich-repeat BspA protein
    A Sharma
    Department of Oral Biology, School of Dental Medicine, State University of New York, 3435 Main Street, Buffalo, NY 14214, USA
    J Dent Res 84:462-7. 2005
    ..In conclusion, evidence is presented in support of T. forsythia as an important organism involved in inducing alveolar bone loss, and the BspA protein is an important virulence factor of this bacterium...
  38. pmc TLRR (lrrc67) interacts with PP1 and is associated with a cytoskeletal complex in the testis
    Rong Wang
    Department of Anatomy and Cell Biology, Brody School of Medicine at East Carolina University, Greenville, NC 27834, USA
    Biol Cell 102:173-89. 2010
    ....
  39. doi Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
    Mohammad Alimohammadi
    University Hospital, Uppsala University, Uppsala, Sweden
    N Engl J Med 358:1018-28. 2008
    ....
  40. ncbi An evolutionarily conserved leucine-rich repeat protein CLERC is a centrosomal protein required for spindle pole integrity
    Yoshinori Muto
    Department of Functional Bioscience, Gifu University School of Medicine, Gifu, Japan
    Cell Cycle 7:2738-48. 2008
    ..These data indicate that the major function of CLERC during mitosis is to maintain the structural integrity of centrosomes, thereby contributing to spindle bipolarity...
  41. doi A molecular platform in neurons regulates inflammation after spinal cord injury
    Juan Pablo de Rivero Vaccari
    Department of Physiology and Biophysics and Neurological Surgery and Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    J Neurosci 28:3404-14. 2008
    ..Thus, rat spinal cord neurons contain a caspase-1, pro-ILbeta, and pro-IL-18 activating complex different from the human NALP1 inflammasome that constitutes an important arm of the innate CNS inflammatory response after SCI...
  42. ncbi CUL-2 and ZYG-11 promote meiotic anaphase II and the proper placement of the anterior-posterior axis in C. elegans
    Ji Liu
    Department of Cellular Biology, University of Georgia, Athens, GA 30602 2607, USA
    Development 131:3513-25. 2004
    ..Finally, we show that inactivation of the leucine-rich repeat protein ZYG-11 produces meiotic and polarity reversal defects similar to those observed in cul-2 mutants, suggesting that the two proteins function in the same pathways...
  43. ncbi A leucine-rich repeat protein is required for growth promotion and enhanced seed production mediated by the endophytic fungus Piriformospora indica in Arabidopsis thaliana
    Bationa Shahollari
    Friedrich Schiller Universitat Jena, Institut für Allgemeine Botanik and Pflanzenphysiologie, Dornburger Str 159, 07743 Jena, Germany
    Plant J 50:1-13. 2007
    ..indica interaction. Thus, pii-2, and presumably also At5g16590, two proteins present in plasma membrane microdomains, appear to be involved in P. indica-induced growth promotion and enhanced seed production in Arabidopsis thaliana...
  44. ncbi Neuronal leucine-rich repeat protein-3 amplifies MAPK activation by epidermal growth factor through a carboxyl-terminal region containing endocytosis motifs
    Katsumi Fukamachi
    Experimental Pathology, Chemotherapy Division, National Cancer Center Research Institute, 5 1 1 Tsukiji, Chuo Ku, Tokyo 104 0045, Japan
    J Biol Chem 277:43549-52. 2002
    ..We propose that NLRR-3 potentiates Ras-MAPK signaling by facilitating internalization of EGF in clathrin-coated vesicles...
  45. ncbi LeSTIG1, an extracellular binding partner for the pollen receptor kinases LePRK1 and LePRK2, promotes pollen tube growth in vitro
    Weihua Tang
    Plant Gene Expression Center, United States Department of Agriculture Agricultural Research Service, and Department of Plant and Microbial Biology, University of California at Berkeley, 800 Buchanan Street, Albany, CA 94710, USA
    Plant J 39:343-53. 2004
    ..Exogenous LeSTIG1 promotes pollen tube growth in vitro. The interaction of these pollen kinases with LeSTIG1 supports the notion that LePRK1 and LePRK2 are involved in mediating pollen-pistil interactions...
  46. doi The Pseudomonas syringae type III effector AvrRpm1 induces significant defenses by activating the Arabidopsis nucleotide-binding leucine-rich repeat protein RPS2
    Min Gab Kim
    Department of Horticulture and Crop Science, Rm 306C Kottman Hall, The Ohio State University, Columbus, OH 43210, USA
    Plant J 57:645-53. 2009
    ....
  47. pmc Neonicotinoid clothianidin adversely affects insect immunity and promotes replication of a viral pathogen in honey bees
    Gennaro Di Prisco
    Dipartimento di Agraria, Laboratorio di Entomologia E Tremblay, Universita degli Studi di Napoli Federico II, I 80055 Portici, Italy
    Proc Natl Acad Sci U S A 110:18466-71. 2013
    ..Furthermore, this study has implications for the conservation of bees, as it will contribute to the definition of more appropriate guidelines for testing chronic or sublethal effects of pesticides used in agriculture. ..
  48. ncbi [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness]
    Yozo Miyake
    Department of Ophthalmology, Nagoya University School of Medicine, 65 Tsuruma cho, Showa Ku, Nagoya 466 8550, Japan
    Nihon Ganka Gakkai Zasshi 106:737-55; discussion 756. 2002
    ..and incomplete CSNB may be misunderstood as indicating functional classification of one disease, it has been proposed internationally to change the name "complete type" to CSNB1 and that of "incomplete type" to CSNB2.
  49. ncbi Relaxation-based structure refinement and backbone molecular dynamics of the dynein motor domain-associated light chain
    Hongwei Wu
    Department of Biochemistry, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, Connecticut 06030 3305, USA
    Biochemistry 42:57-71. 2003
    ..These results, which were cross validated using the 500 MHz data set, strongly support identification of the predicted LC1 binding surfaces and provide additional insight into the interaction mechanisms of leucine-rich repeat proteins...
  50. ncbi Structural analysis of yoked chorionic gonadotropin-luteinizing hormone receptor ectodomain complexes by circular dichroic spectroscopy
    Gregory B Fralish
    Department of Biochemistry and Molecular Biology, Life Sciences Building, University of Georgia, Athens 30602 7229, USA
    Mol Endocrinol 17:1192-202. 2003
    ..Furthermore, the results support a repeating fold, consistent with the proposed model for the LHR ECD...
  51. pmc Suppression of survival signalling pathways by the phosphatase PHLPP
    Audrey K O'Neill
    Biomedical Sciences Graduate Program, University of California, San Diego, CA 92093 0721, USA
    FEBS J 280:572-83. 2013
    ..This review summarizes the targets and cellular actions of PHLPP, with emphasis on its role as a tumour suppressor in the oncogenic phosphoinositide 3-kinase (PI3K)/Akt signalling cascade...
  52. pmc PHLPP1 gene deletion protects the brain from ischemic injury
    Bo Chen
    Department of Neurology, Cedars Sinai Medical Center, Los Angeles, California, USA
    J Cereb Blood Flow Metab 33:196-204. 2013
    ..Inhibition of PHLPP could be a therapeutic approach to minimize damage after focal ischemia...
  53. pmc Optimization of brush-like cationic copolymers for nonviral gene delivery
    Hua Wei
    Department of Bioengineering and Molecular Engineering and Sciences Institute, University of Washington, Seattle, WA 98195, USA
    Biomacromolecules 14:275-84. 2013
    ..current work is to develop an alternative family of polycations based on controlled living radical polymerization (CLRP) and to optimize the polymer structure for efficient gene delivery...
  54. pmc NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome
    Cecilia B Levandowski
    Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045, USA
    Proc Natl Acad Sci U S A 110:2952-6. 2013
    ....
  55. pmc Pleckstrin homology domain leucine-rich repeat protein phosphatase (PHLPP): a new player in cell signaling
    Noel A Warfel
    Department of Pharmacology, University of California San Diego, La Jolla, California 92093, USA
    J Biol Chem 287:3610-6. 2012
    ..This minireview discusses the structure, function, and regulation of PHLPP, with particular focus on its role in disease...
  56. doi Prevalence and significance of NALP5 autoantibodies in patients with idiopathic hypoparathyroidism
    Neeraj Tomar
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India
    J Clin Endocrinol Metab 97:1219-26. 2012
    ..Recently, parathyroid-specific NACHT leucine-rich-repeat protein 5 (NALP5) autoantibodies (Ab) have been reported in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome...
  57. pmc Serine/threonine kinase akt activation regulates the activity of retinal serine/threonine phosphatases, PHLPP and PHLPPL
    Yogita Kanan
    Departments of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Neurochem 113:477-88. 2010
    ....
  58. doi Localisation of opticin in human proliferative retinal disease
    D M Pattwell
    Unit of Ophthalmology, School of Clinical Sciences, University of Liverpool and St Paul s Eye Unit, Royal Liverpool University Hospital, Liverpool L69 3GA, UK
    Exp Eye Res 90:461-4. 2010
    ..Opticin was co-distributed with vitreous type II collagen and was also present in the pre-retinal membranes of proliferative retinopathies, where it could play a role in their development...
  59. pmc Protein degradation and iron homeostasis
    Joel W Thompson
    Department of Biochemistry, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA
    Biochim Biophys Acta 1823:1484-90. 2012
    ..Moreover, these multiple pathways intersect with one another in larger regulatory networks to maintain iron homeostasis. This article is part of a Special Issue entitled: Cell Biology of Metals...
  60. doi Opticin production is reduced by hypoxia and VEGF in human retinal pigment epithelium via MMP-2 activation
    Jin Ma
    Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jifang Road, Hangzhou 310009, China
    Cytokine 59:100-7. 2012
    Opticin, a small leucine rich repeat protein (SLRP) contributes to vitreoretinal adhesion...
  61. pmc Active site inhibitors protect protein kinase C from dephosphorylation and stabilize its mature form
    Christine M Gould
    Department of Pharmacology, University of California, San Diego, La Jolla, California 92093 0721, USA
    J Biol Chem 286:28922-30. 2011
    ..These data provide a molecular explanation for the recent studies showing that active site inhibitors stabilize the phosphorylation state of protein kinases B/Akt and C...
  62. pmc Some strains of Plasmodium falciparum, a human malaria parasite, evade the complement-like system of Anopheles gambiae mosquitoes
    Alvaro Molina-Cruz
    Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD 20852, USA
    Proc Natl Acad Sci U S A 109:E1957-62. 2012
    ..Evasion of the A. gambiae immune system by P. falciparum may be the result of parasite adaptation to sympatric mosquito vectors and may be an important factor driving malaria transmission...
  63. doi Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness
    Qin Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
    Int J Mol Med 30:521-6. 2012
    The aim of this study was to identify mutations in the TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness (CSNB). Twenty-four unrelated patients with CSNB were ascertained...
  64. pmc TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
    Isabelle Audo
    INSERM, UMR_S968, F 75012, Paris, France
    Am J Hum Genet 85:720-9. 2009
    ..Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response...
  65. pmc Blocking and triggering of plant immunity by Pseudomonas syringae effector AvrPto
    Na Zong
    National Institute of Biological Sciences Changping District, Beijing China
    Plant Signal Behav 3:583-5. 2008
    ..Interestingly, the FLS2-AvrPto and Pto-AvrPto interactions share significant similarity, raising the tantalizing possibility that Pto has evolved as a molecular decoy of the intended targets of AvrPto...
  66. pmc Proteolysis of a negative regulator of innate immunity is dependent on resistance genes in tomato and Nicotiana benthamiana and induced by multiple bacterial effectors
    Yao Luo
    The Genome Center, University of California, Davis, California 95616, USA
    Plant Cell 21:2458-72. 2009
    ..syringae pv tomato DC3000 led to the identification of two additional sequence-unrelated effectors that can also induce degradation of RIN4. Therefore, multiple bacterial effectors besides AvrRpt2 elicit proteolysis of RIN4 in planta...
  67. pmc A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness
    Yonghao Gu
    Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi an, China
    Mol Vis 14:20-8. 2008
    ..To identify the gene mutation responsible for a previously described rat model of X-linked congenital stationary night blindness (CSNB)...
  68. pmc Analysis of intimal proteoglycans in atherosclerosis-prone and atherosclerosis-resistant human arteries by mass spectrometry
    Paul Talusan
    Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Cell Proteomics 4:1350-7. 2005
    ..The enhanced deposition of lumican in the intima of an atherosclerosis prone artery has important implications for the pathogenesis of atherosclerosis...
  69. ncbi Expression and regulation of mouse SERDIN1, a highly conserved cardiac-specific leucine-rich repeat protein
    Igor I Adameyko
    Department of Genetics, Dartmouth Medical School, Hanover, New Hampshire 03755, USA
    Dev Dyn 233:540-52. 2005
    ..Cardiac specificity and localization patterns suggest that SERDIN1 is intimately integrated with the molecular pathways controlling cardiogenesis in vertebrates...
  70. ncbi Synleurin, a novel leucine-rich repeat protein that increases the intensity of pleiotropic cytokine responses
    Wei Wang
    Human Genome Sciences, Inc, 9410 Key West Avenue, Rockville, MD 20850, USA
    Biochem Biophys Res Commun 305:981-8. 2003
    ..Synleurin gene (slrn) maps to human chromosome at 5q12. The name synleurin reflects its synergistic effect on cytokine stimulation and its prominent leucine-rich repeats...
  71. ncbi Functional characterization of podocan, a member of a new class in the small leucine-rich repeat protein family
    Ryoko Shimizu-Hirota
    Department of Internal Medicine, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku ku, Tokyo 160 8582, Japan
    FEBS Lett 563:69-74. 2004
    ....
  72. pmc Molecular basis for the RIN4 negative regulation of RPS2 disease resistance
    Brad Day
    Department of Plant and Microbial Biology, University of California, Berkeley, California 94270, USA
    Plant Cell 17:1292-305. 2005
    ..To this end, we have identified specific amino acids within the C-terminal half of RIN4 that are required for RPS2 regulation and association...
  73. doi Feedback regulation of Drosophila BMP signaling by the novel extracellular protein larval translucida
    Milán Szuperák
    Stowers Institute for Medical Research, Kansas City, MO 64110, USA
    Development 138:715-24. 2011
    ....
  74. pmc PHLPP1 splice variants differentially regulate AKT and PKCα signaling in hippocampal neurons: characterization of PHLPP proteins in the adult hippocampus
    Travis C Jackson
    Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, Florida 32610 0244, USA
    J Neurochem 115:941-55. 2010
    Pleckstrin homology and leucine rich repeat protein phosphatases (PHLPPs) are a novel class of potent protein kinase B (AKT) inhibitors that have been intensely investigated in relation to AKT activity in cancer...
  75. pmc The nucleotide-binding domain of NLRC5 is critical for nuclear import and transactivation activity
    Torsten B Meissner
    Department of Cancer Immunology and AIDS, Dana Farber Cancer Institute, Boston, MA 02215, United States
    Biochem Biophys Res Commun 418:786-91. 2012
    ..NLRC5 may thus provide a promising target for the modulation of MHC class I antigen presentation, especially in the setting of transplant medicine...
  76. pmc Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
    Isabelle Audo
    Institut National de la Sante et de la Recherche Medicale, Paris, France
    Am J Hum Genet 90:321-30. 2012
    ..Mutations in NYX, GRM6, and TRPM1, expressed in the outer plexiform layer (OPL) lead to disruption of the ON-bipolar cell response ..
  77. pmc Molecular mechanisms of synaptic specificity in developing neural circuits
    Megan E Williams
    Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093 0366, USA
    Neuron 68:9-18. 2010
    ..These observations suggest that the coordinated actions of a number of molecular signals contribute to the specification and differentiation of synaptic connections in the developing brain...
  78. doi LRRC19, a novel member of the leucine-rich repeat protein family, activates NF-kappaB and induces expression of proinflammatory cytokines
    Limin Chai
    Department of Immunology, Nankai University School of Medicine, Nankai University, Tianjin 300071, PR China
    Biochem Biophys Res Commun 388:543-8. 2009
    ..Thus, LRRC19 may play an important role in inducing innate immune responses in certain tissues such as the kidney...
  79. doi Molecularly imprinted polymers by reversible addition-fragmentation chain transfer precipitation polymerization for preconcentration of atrazine in food matrices
    Shoufang Xu
    Key Laboratory of Coastal Zone Environmental Processes, CAS, Shandong Provincial Key Laboratory of Coastal Zone Environmental Processes, Yantai Institute of Coastal Zone Research, Chinese Academy of Sciences, Yantai 264003, China
    Talanta 85:282-9. 2011
    Controlled/living free radical polymerization (CLRP) has been accepted as an effective technique in preparation of polymers because of its inherent advantages over traditional free radical polymerization...
  80. pmc Perception of the Arabidopsis danger signal peptide 1 involves the pattern recognition receptor AtPEPR1 and its close homologue AtPEPR2
    Elzbieta Krol
    Department of Molecular Plant Physiology and Biophysics, University of Wuerzburg, 97082 Wuerzburg, Germany
    J Biol Chem 285:13471-9. 2010
    ..Our findings provide a basic framework to study the biological role of AtPep1-related danger signals and their cognate receptors...
  81. doi Gain and loss of extracellular molecules in sporadic inclusion body myositis and polymyositis--a proteomics-based study
    Kathrin Doppler
    Department of Pathology and Neuropathology, Divison of Neuropathology, University Hospital of Tubingen, Tubingen, Germany
    Brain Pathol 22:32-40. 2012
    ..Similar to BM remodeling, the specific deposition of PRELP and biglycan may represent a mechanism to defend against immune attack. Loss of P component may affect the anchorage of the myofiber in the endomysium...
  82. pmc Initiation and progression of axonopathy in experimental autoimmune encephalomyelitis
    Athena M Soulika
    Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine, Sacramento, California 95817, USA
    J Neurosci 29:14965-79. 2009
    ....
  83. doi [Effect of vitamin K on bone material properties]
    Mitsuru Saito
    Department of Orthopaedic Surgery, Jikei University School of Medicine, Japan
    Clin Calcium 19:1797-804. 2009
    ..This kinds of non-collagenous proteins induced by the treatment of vitamin K may also affect proper collagen cross-link formation and show the favorable effect on bone material quality...
  84. pmc The Salmonella type III secretion effector, salmonella leucine-rich repeat protein (SlrP), targets the human chaperone ERdj3
    Joaquín Bernal-Bayard
    Departamento de Genetica, Facultad de Biologia, Universidad de Sevilla, Apartado 1095, 41080 Sevilla, Spain
    J Biol Chem 285:16360-8. 2010
    ....
  85. doi WRR4, a broad-spectrum TIR-NB-LRR gene from Arabidopsis thaliana that confers white rust resistance in transgenic oilseed Brassica crops
    Mohammad Hossein Borhan
    Agriculture and Agri Food Canada, Saskatoon Research Centre, 107 Science Place, Saskatoon, SK, Canada, S7N 0X2
    Mol Plant Pathol 11:283-91. 2010
    ..candida race for each host species. The combined data indicate that WRR4 could potentially provide a novel source of white rust resistance in oilseed and vegetable brassica crops...
  86. ncbi [Construction and analysis of the SSH library with the resistant wheat near-isogenic line and its susceptible parent infected by Puccinia striiformis Westend. f. sp. tritici]
    Wei Shu
    Institute of Plant Protection, Chinese Academy of Agricultural Sciences, Beijing 100193, China
    Yi Chuan 33:1011-6. 2011
    ..Among them, leucine-rich repeat protein belongs to signal transduction protein, and others belong to defense response protein...
  87. pmc 14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization
    R Jeremy Nichols
    University of Dundee, Scotland, UK
    Biochem J 430:393-404. 2010
    ..These results provide the first evidence suggesting that 14-3-3 regulates LRRK2 and that disruption of the interaction of LRRK2 with 14-3-3 may be linked to Parkinson's disease...
  88. pmc The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein
    Capucine Van Rechem
    Massachusetts General Hospital Cancer Center and Department of Medicine, Harvard Medical School, Charlestown, Massachusetts 02129, USA
    J Biol Chem 286:30462-70. 2011
    ..This study highlights a finely tuned mechanism for regulating histone demethylase levels and emphasizes the need to tightly regulate chromatin modifiers so that the cell cycle occurs properly...
  89. pmc Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization
    Nicolas Dzamko
    University of Dundee, Scotland, UK
    Biochem J 430:405-13. 2010
    ..They will also stimulate further research to understand how phosphorylation of Ser910 and Ser935 is controlled by LRRK2, and establish any relationship to development of Parkinson's disease...
  90. pmc Plasmodium falciparum dynein light chain 1 interacts with actin/myosin during blood stage development
    Wassim Daher
    Unité INSERM 547 and Center for Infection and Immunity of Lille INSERM U1019, CNRS UMR 8204, Universite Lille Nord de France, Institut Pasteur de Lille, 1 rue du Prof Calmette, 59019 Lille, France
    J Biol Chem 285:20180-91. 2010
    ..Taken together, these findings suggest that PfDLC1 might play an important role in P. falciparum erythrocytic stages by its interaction with myosin A and actin 1, known to be essential for parasite development...
  91. pmc Construction of a large extracellular protein interaction network and its resolution by spatiotemporal expression profiling
    Stephen Martin
    Cell Surface Signalling Laboratory, Wellcome Trust Sanger Institute, Cambridge CB101HH, United Kingdom
    Mol Cell Proteomics 9:2654-65. 2010
    ..sanger.ac.uk/arnie) and provide a valuable resource of new extracellular signaling interactions for developmental biology...
  92. pmc Identification and characterization of the integrin alpha2beta1 binding motif in chondroadherin mediating cell attachment
    Lisbet Haglund
    Department of Clinical Sciences Lund, Lund University, BMC Plan C12, SE 22184 Lund, Sweden
    J Biol Chem 286:3925-34. 2011
    ..The peptides, particularly the more stable cyclic peptide, open new opportunities to modulate cell behavior in situations of tissue pathology...
  93. pmc PP1 forms an active complex with TLRR (lrrc67), a putative PP1 regulatory subunit, during the early stages of spermiogenesis in mice
    Rong Wang
    Department of Anatomy and Cell Biology, Brody School of Medicine at East Carolina University, Greenville, North Carolina, United States of America
    PLoS ONE 6:e21767. 2011
    ..We have described previously a leucine rich repeat protein, TLRR (also known as lrrc67), which is associated with the spermatid cytoskeleton in mouse testis and ..
  94. doi New biochemical approaches towards understanding the Parkinson's disease-associated kinase, LRRK2
    Geou Yarh Liou
    Department of Cancer Biology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Biochem J 424:e1-3. 2009
    ..In the present commentary, we discuss some of the components of this new LRRK2 biochemical toolbox and how they can be used to better understand this enigmatic kinase...
  95. pmc Ribosome-binding protein p34 is a member of the leucine-rich-repeat-protein superfamily
    T Ohsumi
    Department of Biosystem Science, Graduate School of Science and Technology, Niigata University, Japan
    Biochem J 294:465-72. 1993
    ..The cytoplasmic domain also contains a characteristic hydrophilic region with abundant charged amino acids. These structural regions may be important for the observed ribosome-binding activity of the p34 protein...
  96. pmc Genotype-phenotype correlation in British families with X linked congenital stationary night blindness
    L E Allen
    Eye Department, Addenbrooke s Hospital, Cambridge, UK
    Br J Ophthalmol 87:1413-20. 2003
    ..To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype...
  97. ncbi LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex
    Laura Carim-Todd
    Programme of Bioinformatics and Genomics, Centre de Regulacio Genomica CRG, Passeig Maritim 37 49, 08003 Barcelona, Spain
    Eur J Neurosci 18:3167-82. 2003
    ....
  98. ncbi Structure-activity relationships of snake toxins targeting platelet receptors, glycoprotein Ib-IX-V and glycoprotein VI
    Robert K Andrews
    Vascular Biology Laboratory, Department of Biochemistry and Molecular Biology, Monash University, Clayton 3168, Australia
    Curr Med Chem Cardiovasc Hematol Agents 1:143-9. 2003
    ..Anti-thrombotics based on snake venom GPIIb-IIIa inhibitors have been investigated clinically, however analogous proteins recognizing GPIb-IX-V or GPVI are yet to be therapeutically exploited...
  99. ncbi The leucine-rich repeat protein LRIG1 is a negative regulator of ErbB family receptor tyrosine kinases
    Melanie B Laederich
    University of California Davis Cancer Center, Sacramento, California 95817, USA
    J Biol Chem 279:47050-6. 2004
    ....
  100. ncbi Positional information and mobile transcriptional regulators determine cell pattern in the Arabidopsis root epidermis
    Liam Dolan
    Department of Cell and Developmental Biology, John Innes Centre, Norwich NR4 7UH, UK
    J Exp Bot 57:51-4. 2006
    ....
  101. ncbi The claw paw mutation reveals a role for Lgi4 in peripheral nerve development
    John R Bermingham
    McLaughlin Research Institute, 1520 23rd Street South, Great Falls, Montana 59405, USA
    Nat Neurosci 9:76-84. 2006
    ..Thus, the abnormalities observed in clp mice are attributable to the loss of Lgi4 function, and they identify Lgi4 as a new component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation...

Research Grants69

  1. Zebrafish Mutant Mapping Facility
    Ronald Gregg; Fiscal Year: 2006
    ..abstract_text> ..
  2. Ganglion Cell Function in Retinal Disease
    Maureen A McCall; Fiscal Year: 2010
    ..We have three unique mouse models of CSNB1 that we will continue to use to probe the synaptic circuitry underlying CSNB, in which normal photoreceptor ..
  3. LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTS
    Yongwon Choi; Fiscal Year: 2007
    ....
  4. LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTS
    Yongwon Choi; Fiscal Year: 2009
    ....
  5. MOLECULAR ANALYSIS OF FLAGELLAR DYNEIN FUNCTION
    Stephen King; Fiscal Year: 2009
    ..We will use in vitro assays to define motor function and to test potential mechanisms by which the activity of these two opposing motors is coordinated. ..
  6. MOLECULAR ANALYSIS OF FLAGELLAR DYNEIN FUNCTION
    Stephen M King; Fiscal Year: 2010
    ..We will use in vitro assays to define motor function and to test potential mechanisms by which the activity of these two opposing motors is coordinated. ..
  7. Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein Phosphatase
    ALEXANDRA NEWTON; Fiscal Year: 2009
    ....
  8. Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein Phosphatase
    Alexandra C Newton; Fiscal Year: 2010
    ....
  9. Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein Phosphatase
    ALEXANDRA NEWTON; Fiscal Year: 2009
    ....
  10. Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein Phosphatase
    ALEXANDRA NEWTON; Fiscal Year: 2007
    ....
  11. Mechanisms for regulation of cell adhesion and migration
    Julie L Kadrmas; Fiscal Year: 2010
    ....
  12. Nogo Receptor in Axonal Regeneration
    Stephen Strittmatter; Fiscal Year: 2005
    ..This research may also prove applicable to a wide range of chronic brain axonal injuries, such as traumatic brain injury, white matter strokes and chronic progressive multiple sclerosis. ..
  13. Mechanisms of Receptor Tyrosine Kinase Inhibition
    COLLEEN ANN SWEENEY; Fiscal Year: 2010
    ..The proposed project will lay the biochemical foundation for LRIG1 as a negative regulator of ErbB receptor function. ..
  14. Mechanisms of Receptor Tyrosine Kinase Inhibition
    COLLEEN ANN SWEENEY; Fiscal Year: 2010
    ..The proposed project will lay the biochemical foundation for LRIG1 as a negative regulator of ErbB receptor function. ..
  15. ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
    Ronald Gregg; Fiscal Year: 2009
    ..The studies in this proposal will characterize the nature of the defects and determine new proteins critical to function. ..
  16. ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
    Ronald G Gregg; Fiscal Year: 2010
    ..They have defects in signal transmission between photoreceptors and the second neuron in the pathway. The studies in this proposal will characterize the nature of the defects and determine new proteins critical to function. ..
  17. ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
    Ronald Gregg; Fiscal Year: 2002
    ..the X-chromosome, in a region syntenic to that in humans that contains the genes responsible for CSNB1, CSNB2 and CSNB4, and two forms of retinitis pigmentosa (RP2 and RP3)...
  18. ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
    Ronald Gregg; Fiscal Year: 2006
    ..At the completion of this project, we expect to have a thorough understanding of the role that nyctalopin plays in DBC signal transduction, and to have identified additional proteins involved in this important process. ..
  19. Zebrafish Mutant Mapping Facility
    Ronald Gregg; Fiscal Year: 2007
    ....
  20. The role of nyctalopin in the mammalian retina
    CATHERINE MORGANS; Fiscal Year: 2006
    Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary disease caused by a block in synaptic transmission in the retina between photoreceptors and ON-bipolar cells (ON-BPCs)...
  21. Retinal Mechanisms of Refractive Development
    Machelle Pardue; Fiscal Year: 2009
    ..The proposed research will reveal new insights into the retinal mechanisms that control refractive development, thus identifying novel targets for new interventions that would prevent or retard refractive errors. ..
  22. Retinal Mechanisms of Refractive Development
    Machelle Pardue; Fiscal Year: 2009
    ..The proposed research will reveal new insights into the retinal mechanisms that control refractive development, thus identifying novel targets for new interventions that would prevent or retard refractive errors. ..
  23. B.forsythus BsPA protein: role in virulence
    Ashu Sharma; Fiscal Year: 2003
    ..In the long term, understanding the basic mechanisms of the BspA-mediated pathogenesis of B. forsythus will be vital in developing intervention strategies against periodontal disease. ..
  24. Retinal Mechanisms of Refractive Development
    Machelle T Pardue; Fiscal Year: 2011
    ..The proposed research will reveal new insights into the retinal mechanisms that control refractive development, thus identifying novel targets for new interventions that would prevent or retard refractive errors. ..
  25. Signaling mechanisms of retinal bipolar cells
    Catherine W Morgans; Fiscal Year: 2010
    ....
  26. Genetic Control of Schwann Cell Differentiation
    John Bermingham; Fiscal Year: 2009
    ..By understanding how the Lgi4 protein controls Schwann cell development, we will establish new avenues for the treatment of myelin disorders and nerve injury. ..
  27. GENETIC CONTROL OF SCHWANN CELL MYELINATION
    John Bermingham; Fiscal Year: 2005
    ..In the fourth Specific Aim, it is proposed to study postnatal functions of Oct-6 in peripheral myelination using mice that lack the gene only in Schwann cells. ..
  28. Calcium channels at ribbon synapses in the retina
    CATHERINE MORGANS; Fiscal Year: 2007
    ..The results of these experiments will provide insight into the composition and functional organization of retinal ribbon synapses and into the perturbation of retinal function associated with CSNB2. ..
  29. Signaling mechanisms of retinal bipolar cells
    CATHERINE MORGANS; Fiscal Year: 2009
    ....