NYX

Summary

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

Top Publications

  1. 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
  2. ncbi Identification of the gene and the mutation responsible for the mouse nob phenotype
    Ronald G Gregg
    Department of Biochemistry and Molecular Biology, University of Louisville, 319 Abraham Flexner Way, Louisville, KY 40202, USA
    Invest Ophthalmol Vis Sci 44:378-84. 2003
  3. ncbi Localization of nyctalopin in the mammalian retina
    Catherine W Morgans
    Neurological Sciences Institute, Oregon Health and Science University, Beaverton, 97006, USA
    Eur J Neurosci 23:1163-71. 2006
  4. 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
  5. doi A novel missense mutation in the NYX gene associated with high myopia
    Shea Ping Yip
    Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    Ophthalmic Physiol Opt 33:346-53. 2013
  6. 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
  7. doi A common NYX mutation in Flemish patients with X linked CSNB
    B P Leroy
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Br J Ophthalmol 93:692-6. 2009
  8. pmc Mutations in NYX of individuals with high myopia, but without night blindness
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:330-6. 2007
  9. 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
  10. 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

Research Grants

  1. Mouse Model of DBC Dysfunction
    Neal S Peachey; Fiscal Year: 2012
  2. Ganglion Cell Function in Retinal Disease
    Maureen A McCall; Fiscal Year: 2013
  3. ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
    Ronald G Gregg; Fiscal Year: 2013
  4. Mechanisms for regulation of cell adhesion and migration
    Julie L Kadrmas; Fiscal Year: 2013
  5. The Role of FBXL4 in T-cell Acute Lymphoblastic Leukemia
    JULIE ERIKA M HAYDU; Fiscal Year: 2013
  6. LRIG Proteins in mammary gland development and carcinogenesis
    COLLEEN ANN SWEENEY; Fiscal Year: 2013
  7. Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein Phosphatase
    Alexandra C Newton; Fiscal Year: 2013
  8. LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTS
    Yongwon Choi; Fiscal Year: 2009
  9. Zebrafish Mutant Mapping Facility
    Ronald Gregg; Fiscal Year: 2007
  10. Genetic Control of Schwann Cell Differentiation
    JOHN RUTLEDGE BERMINGHAM; Fiscal Year: 2011

Detail Information

Publications210 found, 100 shown here

  1. 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...
  2. ncbi Identification of the gene and the mutation responsible for the mouse nob phenotype
    Ronald G Gregg
    Department of Biochemistry and Molecular Biology, University of Louisville, 319 Abraham Flexner Way, Louisville, KY 40202, USA
    Invest Ophthalmol Vis Sci 44:378-84. 2003
    ..b-wave) provides an animal model for the complete form of human X-linked congenital stationary night blindness (CSNB1)...
  3. ncbi Localization of nyctalopin in the mammalian retina
    Catherine W Morgans
    Neurological Sciences Institute, Oregon Health and Science University, Beaverton, 97006, USA
    Eur J Neurosci 23:1163-71. 2006
    Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary visual disease characterized by abnormalities in both the dark- and light-adapted electroretinogram, consistent with a defect in synaptic transmission ..
  4. 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)...
  5. doi A novel missense mutation in the NYX gene associated with high myopia
    Shea Ping Yip
    Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
    Ophthalmic Physiol Opt 33:346-53. 2013
    Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene...
  6. 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...
  7. doi A common NYX mutation in Flemish patients with X linked CSNB
    B P Leroy
    Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
    Br J Ophthalmol 93:692-6. 2009
    ..So far, mutations in two genes, NYX (nyctalopin) and GRM6 (metabotropic glutamate receptor 6) have been associated with this form of CSNB...
  8. pmc Mutations in NYX of individuals with high myopia, but without night blindness
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:330-6. 2007
    ..4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1...
  9. 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...
  10. 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...
  11. 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...
  12. 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.
  13. 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.
  14. 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
    ....
  15. 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).
  16. 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...
  17. 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)...
  18. 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...
  19. 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...
  20. 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.
  21. 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)...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  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. 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...
  28. 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)...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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
    ....
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. 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...
  41. 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
    ....
  42. 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
    ....
  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. pmc A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites
    Jillian N Pearring
    Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, Kentucky 40202, USA
    J Neurosci 31:10060-6. 2011
    ..Biochemical and genetic data indicate that nyctalopin and TRPM1 interact directly, suggesting that nyctalopin is acting as an accessory TRP channel subunit critical for proper channel localization to the synapse...
  46. doi PH domain leucine-rich repeat protein phosphatase 1 contributes to maintain the activation of the PI3K/Akt pro-survival pathway in Huntington's disease striatum
    A Saavedra
    Departament de Biologia Cellular, Immunologia i Neurociencies, Facultat de Medicina, Universitat de Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Casanova 143, Barcelona, Spain
    Cell Death Differ 17:324-35. 2010
    ..In the striatum, these reduced levels of PHLPP1 can contribute to maintain high levels of activated Akt that may delay cell death and allow the recovery of neuronal viability after mutant huntingtin silencing...
  47. ncbi The Anp32 family of proteins containing leucine-rich repeats
    Antoni Matilla
    Institute of Child Health, University College London, London, UK
    Cerebellum 4:7-18. 2005
    ....
  48. pmc Thioredoxin h5 is required for victorin sensitivity mediated by a CC-NBS-LRR gene in Arabidopsis
    Teresa A Sweat
    Department of Botany and Plant Pathology, Center for Genome Research and Biocomputing, Oregon State University, Corvallis, Oregon 97331 2902, USA
    Plant Cell 19:673-87. 2007
    ..Finally, we determined that only the first of the two active-site Cys residues in ATTRX5 is required for the response to victorin, suggesting that ATTRX5 function in the victorin pathway involves an atypical mechanism of action...
  49. 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...
  50. doi Benchmarking EGSnrc in the kilovoltage energy range against experimental measurements of charged particle backscatter coefficients
    E S M Ali
    Carleton Laboratory for Radiotherapy Physics, Ottawa Carleton Institute of Physics, Carleton University, 1125 Colonel By Drive, Ottawa, ON K1S 5B6, Canada
    Phys Med Biol 53:1527-43. 2008
    ..A documented EGSnrc user-code customized for backscatter calculations is available from the authors at http://www.physics.carleton.ca/clrp/backscatter.
  51. 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...
  52. ncbi The Arabidopsis gain-of-function mutant ssi4 requires RAR1 and SGT1b differentially for defense activation and morphological alterations
    Fasong Zhou
    Boyce Thompson Institute for Plant Research, Tower Road, Ithaca, NY 14853, USA
    Mol Plant Microbe Interact 21:40-9. 2008
    ..Thus, multiple environmental factors impact on ssi4 signaling, as has been observed for other constitutive defense mutants and R gene-triggered pathways...
  53. pmc Depletion of Pleckstrin homology domain leucine-rich repeat protein phosphatases 1 and 2 by Bcr-Abl promotes chronic myelogenous leukemia cell proliferation through continuous phosphorylation of Akt isoforms
    Isao Hirano
    Department of Internal Medicine III, Cancer Center, Hamamatsu University School of Medicine, Shizuoka, Japan
    J Biol Chem 284:22155-65. 2009
    ..Thus, Bcr-Abl represses the expression of PHLPP1 and PHLPP2 and continuously activates Akt1, -2, and -3 via phosphorylation on Ser-473, resulting in the proliferation of CML cells...
  54. ncbi Nephrocan, a novel member of the small leucine-rich repeat protein family, is an inhibitor of transforming growth factor-beta signaling
    Yoshiyuki Mochida
    Dental Research Center, University of North Carolina, Chapel Hill, North Carolina 27599 7455, USA
    J Biol Chem 281:36044-51. 2006
    ..Taken together, NPN is a novel member of the SLRP family that may play important roles in kidney development and pathophysiology by functioning as an endogenous inhibitor of TGF-beta signaling...
  55. pmc Identification of a novel antigen of Schistosoma mansoni shared with Plasmodium falciparum and evaluation of different cross-reactive antibody subclasses induced by human schistosomiasis and malaria
    Christine Pierrot
    Unité INSERM 547, IFR 17, Institut Pasteur de Lille, 1 rue du Prof Calmette, 59019 Lille, France
    Infect Immun 74:3347-54. 2006
    ..In addition, the levels of anti-SmLRR IgG4, but not the levels of IgG3, correlated positively with the intensity of S. mansoni infection...
  56. ncbi Bacterial killing by heparin-binding peptides from PRELP and thrombospondin
    Martin Malmsten
    Department of Pharmacy, Uppsala University, SE 751 23 Uppsala, Sweden
    Matrix Biol 25:294-300. 2006
    ..Thus, the data disclose a novel antimicrobial activity of heparin-binding regions of matrix glycoproteins. The findings can be utilized in the development of novel AMPs for therapeutic use...
  57. pmc Leucine-rich repeat protein complex activates mosquito complement in defense against Plasmodium parasites
    Michael Povelones
    Division of Cell and Molecular Biology, Department of Life Sciences, Imperial College London, Exhibition Road, London SW7 2AZ, UK
    Science 324:258-61. 2009
    ..LRIM1 and APL1C are members of a protein family with orthologs in other disease vector mosquitoes and appear to be important effectors in innate mosquito defenses against human pathogens...
  58. pmc Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons
    Y Ezura
    Department of Pathology Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Cell Biol 151:779-88. 2000
    ..These studies indicate that lumican and fibromodulin have different developmental stage and leucine-rich repeat protein specific functions in the regulation of fibrillogenesis...
  59. doi Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility?
    Jessica L Andrews
    Centre for Translational Neuroscience, Illawarra Health and Medical Research Institute, Faculty of Science, Medicine and Health, University of Wollongong, New South Wales 2522, Australia
    Genet Res (Camb) 96:e15. 2014
    ..Regarding the rising interest in ubiquitin-related proteins as a therapeutic target in other pathologies such as cancer, further research into the role of ubiquitin pathways in schizophrenia seems topical and timely...
  60. pmc Refractive index measurement of the mouse crystalline lens using optical coherence tomography
    Ranjay Chakraborty
    Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Rd NE Atlanta, GA 30322, USA Center of Excellence in Visual and Neurocognitive Rehabilitation, Atlanta VA Medical Center, 1670 Clairmont Road, Decatur, GA 30033, USA
    Exp Eye Res 125:62-70. 2014
    ..in thickness and refractive index of the mouse crystalline lens for two different strains, wild-type (WT) and a nyx mutant (nob) over the course of normal visual development or after form deprivation...
  61. pmc AAV-mediated expression of human PRELP inhibits complement activation, choroidal neovascularization and deposition of membrane attack complex in mice
    M T Birke
    Department of Ophthalmology, Tufts University School of Medicine, Boston, MA, USA
    Gene Ther 21:507-13. 2014
    ..PRELP reduced deposition of MAC in vivo by 25.5%. Our results have implications for the development of complement inhibitors as a therapy for AMD...
  62. doi Specification of synaptic connectivity by cell surface interactions
    Joris De Wit
    VIB Center for the Biology of Disease and Center for Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium
    Nat Rev Neurosci 17:4. 2016
    ..The emerging evidence suggests that the concerted actions of these proteins may critically contribute to the assembly of neural circuits. ..
  63. ncbi Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
    Richard G Weleber
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
    Ophthalmic Genet 23:71-97. 2002
    ..CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which ..
  64. 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...
  65. pmc Essential role of PH domain and leucine-rich repeat protein phosphatase 2 in Nrf2 suppression via modulation of Akt/GSK3β/Fyn kinase axis during oxidative hepatocellular toxicity
    F Rizvi
    1 Academy of Scientific and Innovative Research, New Delhi, India 2 Herbal Research Section, Food Drug and Chemical Toxicology Division, Council of Scientific and Industrial Research Indian Institute of Toxicology Research CSIR IITR, Lucknow, India
    Cell Death Dis 5:e1153. 2014
    ..The study indicates that PHLPP2 could serve as a new target for developing strategies to manage pathological conditions exacerbated due to oxidative stress. ..
  66. ncbi Fliih, the murine homologue of the Drosophila melanogaster flightless I gene: nucleotide sequence, chromosomal mapping and overlap with Llglh
    H D Campbell
    Centre for Molecular Structure and Function, Research School of Biological Sciences, John Curtin School of Medical Research, The Australian National University, Canberra, ACT
    DNA Seq 11:29-40. 2000
    ..The overlap region contains polyA signals for both genes and is conserved between human and mouse...
  67. doi Nightblindness-associated transient tonic downgaze (NATTD) in infant boys with chin-up head posture
    H J Simonsz
    Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Amsterdam
    Strabismus 17:158-64. 2009
    ..Eight boys had CACNA1F mutations, and 1 boy had a NYX mutation, compatible with incomplete or complete congenital stationary nightblindness (iCSNB or cCSNB), ..
  68. pmc Diacylglycerol kinase δ modulates Akt phosphorylation through pleckstrin homology domain leucine-rich repeat protein phosphatase 2 (PHLPP2)
    Tracy M Crotty
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112, USA
    J Biol Chem 288:1439-47. 2013
    ..Our collective data indicate that DGKδ is a pertinent cancer target, and our studies could lay the groundwork for development of novel cancer therapeutics...
  69. pmc Artificial Recruitment of UAF1-USP Complexes by a PHLPP1-E1 Chimeric Helicase Enhances Human Papillomavirus DNA Replication
    David Gagnon
    Institut de recherches cliniques de Montreal IRCM, Montreal, Quebec, Canada Department of Biochemistry and Molecular Medicine, Universite de Montreal, Montreal, Quebec, Canada
    J Virol 89:6227-39. 2015
    ....
  70. pmc Novel small leucine-rich repeat protein podocan is a negative regulator of migration and proliferation of smooth muscle cells, modulates neointima formation, and is expressed in human atheroma
    Randolph Hutter
    Departments of Medicine and Cardiology, Mount Sinai School of Medicine, New York, NY R H, L H, W S S, C G, P T, V F, J J B Department of Cardiology, Elisabeth Klinikum, Schmalkalden, Germany G B Department of Medicine, Duke University, Durham, NC M E K and Department of Medicine, Baylor College of Medicine, Houston, TX P E K
    Circulation 128:2351-63. 2013
    ..In all these conditions, we concomitantly evaluated the Wnt-TCF (T-cell factor) pathway...
  71. pmc The EGP1 gene may be a positive regulator of protein phosphatase type 1 in the growth control of Saccharomyces cerevisiae
    N Hisamoto
    Department of Molecular Biology, Faculty of Science, Nagoya University, Japan
    Mol Cell Biol 15:3767-76. 1995
    ..Egp1 and PP1 directly interact, as assayed by coimmunoprecipitation. These results suggest that Egp1 functions as a positive modulator of PP1 in the growth control of S. cerevisiae...
  72. pmc Molecular recognition of human angiogenin by placental ribonuclease inhibitor--an X-ray crystallographic study at 2.0 A resolution
    A C Papageorgiou
    Department of Biology and Biochemistry, University of Bath, Claverton Down, Bath BA2 7AY, UK
    EMBO J 16:5162-77. 1997
    ..The implications of these findings for the development of small, hRI-based inhibitors of Ang for therapeutic use are discussed...
  73. ncbi Sequence and expression of LRR47, a novel embryonic leucine rich repeat protein of Drosophila
    M Ntwasa
    Department of Biochemistry, University of Cambridge, UK
    Biochim Biophys Acta 1218:181-6. 1994
    ..The LRR47 gene maps to position 32A on the left arm of chromosome 2, an interval in which three genes with semi-lethal maternal effects (dal, hup and wdl) are located...
  74. pmc NYX mutations in four families with high myopia with or without CSNB1
    Lin Zhou
    Department of Ophthalmology, Remin Hospital of Wuhan University, Wuhan, Hubei Province, People s Republic of China Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People s Republic of China
    Mol Vis 21:213-23. 2015
    Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia...
  75. ncbi Drosophila windpipe codes for a leucine-rich repeat protein expressed in the developing trachea
    Janice L Huff
    Department of Biological Sciences, University of Nevada Las Vegas, 4505 Maryland Parkway, Las Vegas, NV 89154 4004, USA
    Mech Dev 111:173-6. 2002
    ..wdp transcripts appear abruptly at stage 15 and are restricted to primary tracheal branches that give rise to secondary branches...
  76. pmc Allergic airway inflammation by nasal inoculation of particulate matter (PM2.5) in NC/Nga mice
    Keiki Ogino
    Department of Public Health, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
    PLoS ONE 9:e92710. 2014
    ..5 can induce airway hyperresponsiveness in mice with genetically high sensitivity to mite allergens by an inflammasome-associated mechanism and synergistic action of insoluble particulates and soluble components. ..
  77. pmc Leureptin: a soluble, extracellular leucine-rich repeat protein from Manduca sexta that binds lipopolysaccharide
    Yifei Zhu
    Department of Biochemistry, Kansas State University, 141 Chalmers Hall, Manhattan, KS 66506, USA
    Insect Biochem Mol Biol 40:713-22. 2010
    ..Sequence database searches suggest similar proteins are present in other Lepidopteran species...
  78. ncbi Identification of a novel pathogen-induced gene encoding a leucine-rich repeat protein expressed in phloem cells of Capsicum annuum
    Eui Hwan Jung
    Laboratory of Molecular Plant Pathology, College of Life and Environmental Sciences, Korea University, Anam Dong, Sungbuk Ku, Seoul 136 701, South Korea
    Biochim Biophys Acta 1676:211-22. 2004
    ..The location characteristics and the spatio-temporal expression pattern of CALRR1 suggest that it may play a role in protecting phloem cells against biotic and abiotic stresses affecting phloem function...
  79. pmc WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1)
    Narmadha Reddy Gangula
    From the Laboratory of Cell Death and Cell Survival, Centre for DNA Fingerprinting and Diagnostics CDFD, Nampally, Hyderabad 500001, India
    J Biol Chem 288:34545-54. 2013
    ..Together, our results reveal WDR48 and USP12 as novel PHLPP1 regulators and potential suppressors of tumor cell survival. ..
  80. ncbi Copper-mediated controlled/"living" radical polymerization in polar solvents: insights into some relevant mechanistic aspects
    Tamaz Guliashvili
    GE Power and Water Water and Process Technologies, 4636 Somerton Road, Trevose, PA 19053 USA, Fax 1 215 953 2361
    Chemistry 18:4607-12. 2012
    The field of transition-metal-mediated controlled/"living" radical polymerization (CLRP) has become the subject of intense discussion regarding the mechanism of this widely-used and versatile process...
  81. doi [Roles of NLRP1 in blood diseases]
    Jin Yan Wu
    Department of Hematology, Affiliated Hospital of Xuzhou Medical College, Xuzhou 221002, Jiangsu Province, China
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 22:1476-9. 2014
    ..This review briefly summarizes the structure, activation mechanism, regulation and the role of NLRP1 in the hematopoietic system. ..
  82. doi Characterization of a novel anther-specific gene encoding a leucine-rich repeat protein in petunia
    Y Z Yue
    Key Laboratory of Horticultural Plant Biology Ministry of Education, College of Horticulture and Forestry Sciences, Huazhong Agricultural University, Wuhan, Hubei Province, China
    Genet Mol Res 13:9889-98. 2014
    ..These results suggested that PhLRR is a novel anther-specific gene that may be essential for the early development of anthers. ..
  83. doi Autoantibody response against NALP5/MATER in primary ovarian insufficiency and in autoimmune Addison's disease
    Annalisa Brozzetti
    Department of Internal Medicine A B, S M, V M, A F, University of Perugia, 06126 Perugia, Italy Department of Medical Sciences M A, O K, Science for Life Laboratory, Uppsala University, 750 03 Uppsala, Sweden Centre of Molecular Medicine M A, A H, O K, Department of Medicine Solna, Karolinska Institutet, 171 76 Stockholm, Sweden Division of Endocrinology, Diabetology, and Metabolism R G, Department of Medical Sciences, University of Turin, 10126 Turin, Italy Department of Cardio Thoracic and Respiratory Science A D B, Endocrinology Unit, Second University of Naples, 80132 Naples, Italy and Department of Pediatrics Neonatal Intensive Care R P, V Fazzi Regional Hospital, 73100 Lecce, Italy
    J Clin Endocrinol Metab 100:1941-8. 2015
    ..Mater is an autoantigen in experimental autoimmune oophoritis...
  84. doi LRT, a tendon-specific leucine-rich repeat protein, promotes muscle-tendon targeting through its interaction with Robo
    Bess Wayburn
    Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel
    Development 136:3607-15. 2009
    ..Taken together, our data suggest a novel mechanism by which muscles are targeted towards tendon cells as a result of LRT-Robo interactions. This mechanism may apply to the Robo-dependent migration of a wide variety of cell types...
  85. pmc Hal Is a Bacillus anthracis heme acquisition protein
    Miriam A Balderas
    Department of Molecular Virology and Microbiology, Baylor College of Medicine, Houston, Texas, USA
    J Bacteriol 194:5513-21. 2012
    ..These studies advance our understanding of heme acquisition by this dangerous pathogen and justify efforts to determine the mechanistic function of this novel protein for vaccine or inhibitor development...
  86. 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
    ....
  87. pmc Regional hippocampal differences in AKT survival signaling across the lifespan: implications for CA1 vulnerability with aging
    T C Jackson
    Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, FL 32610 0244, USA
    Cell Death Differ 16:439-48. 2009
    ....
  88. 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)...
  89. pmc LRRK2 dephosphorylation increases its ubiquitination
    Jing Zhao
    The Parkinson s Institute, 675 Almanor Ave, Sunnyvale, CA 94085, U S A
    Biochem J 469:107-20. 2015
    Activating mutations in the leucine rich repeat protein kinase 2 (LRRK2) gene are the most common cause of inherited Parkinson's disease (PD)...
  90. pmc PHLPP is a negative regulator of RAF1, which reduces colorectal cancer cell motility and prevents tumor progression in mice
    Xin Li
    Markey Cancer Center, University of Kentucky, Lexington, Kentucky
    Gastroenterology 146:1301-12.e1-10. 2014
    ..Little is known about how RAS-RAF signaling is turned off once activated. We investigated how the pH domain and leucine-rich repeat protein phosphatases (PHLPPs) control RAS-RAF signaling and colorectal cancer (CRC) development...
  91. doi Cloning and characterization of r3b; members of the r3 superfamily of late blight resistance genes show sequence and functional divergence
    Guangcun Li
    key Laboratory of Corp Genetic Improvement and Biotechnology, Shandong Province, Shandong Academy of Agricultural Sciences, Jinan 250100, P R China
    Mol Plant Microbe Interact 24:1132-42. 2011
    ..In addition to the Rpi-mcd1/Rpi-blb3 locus on chromosome IV, the R3 locus on chromosome XI is the second example of an R-gene cluster with multiple genes recognizing different races of P. infestans...
  92. ncbi Neuronal expression of F-box and leucine-rich-repeat protein 2 decreases over Braak stages in the brains of Alzheimer's disease patients
    Tomomichi Watanabe
    CNS Drug Discovery Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
    Neurodegener Dis 11:1-12. 2013
    ....
  93. doi Evaluation of NLRP1 gene polymorphisms in Vogt-Koyanagi-Harada disease
    Yukihiro Horie
    Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Jpn J Ophthalmol 55:57-61. 2011
    ..In this study, genetic associations between VKH disease and single-nucleotide polymorphisms (SNPs) surrounding the NLRP1 gene were investigated...
  94. doi F-box and leucine-rich repeat protein 22 is a cardiac-enriched F-box protein that regulates sarcomeric protein turnover and is essential for maintenance of contractile function in vivo
    Sebastian Spaich
    Department of Internal Medicine III, University of Heidelberg, Heidelberg, Germany
    Circ Res 111:1504-16. 2012
    ..The emerging role of the ubiquitin-proteasome system in cardiomyocyte function and homeostasis implies the necessity of tight regulation of protein degradation. However, little is known about cardiac components of this machinery...
  95. doi PRELP (proline/arginine-rich end leucine-rich repeat protein) promotes osteoblastic differentiation of preosteoblastic MC3T3-E1 cells by regulating the β-catenin pathway
    Haiying Li
    School of Medicine and Life Sciences, University of Jinan Shandong Academy of Medical Science, Ji Nan, Shandong, China Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji Nan, Shandong, China
    Biochem Biophys Res Commun 470:558-62. 2016
    ..Therefore, this study established a new role of PRELP in modulating β-catenin/connexin43 pathway and osteoblast differentiation. ..
  96. doi Incipient stem cell niche conversion in tissue culture: using a systems approach to probe early events in WUSCHEL-dependent conversion of lateral root primordia into shoot meristems
    Steven P Chatfield
    Department of Cell and Systems Biology, University of Toronto, 25 Harbord Street, Toronto, ON M5S 3G5, Canada
    Plant J 73:798-813. 2013
    ..Cytokinin treatment induces the expression of the shoot meristematic gene WUSCHEL (WUS) in converting LRP (cLRP) within 24-30 h, and WUS is required for LRP → SM conversion...
  97. doi Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly
    Tsuyoshi Fukuda
    Laboratory of Developmental Genetics, Center for Experimental Medicine and Systems Biology, Institute of Medical Science, University of Tokyo, 4 6 1, Shirokanedai, Minato ku, Tokyo, Japan
    Mol Cell Neurosci 46:614-24. 2011
    ..5 brain. Our findings suggest that the Fbxl10 gene makes important contributions to embryonic neural development by regulating cell proliferation and cell death in mice...
  98. pmc miR-190-mediated downregulation of PHLPP contributes to arsenic-induced Akt activation and carcinogenesis
    Kevin Beezhold
    The Health Effects Laboratory Division, National Institute for Occupational Safety and Health, Morgantown, West Virginia 26505, USA
    Toxicol Sci 123:411-20. 2011
    ..Accordingly, the data presented suggest that induction of miR-190 is one of the key mechanisms in As(3+)-induced carcinogenesis...
  99. pmc Discovery of small molecule inhibitors of the PH domain leucine-rich repeat protein phosphatase (PHLPP) by chemical and virtual screening
    Emma Sierecki
    Department of Pharmacology, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093
    J Med Chem 53:6899-911. 2010
    ..Thus, chemical and virtual screening has resulted in the identification of small molecules that promote Akt signaling by inhibiting its negative regulator PHLPP...
  100. pmc Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
    Christina Zeitz
    Unité Mixte de Recherche S968, Institut National de la Sante et de la Recherche Medicale, F 75012 Paris, France
    Am J Hum Genet 92:67-75. 2013
    ..The mode of inheritance of this form can be X-linked or autosomal recessive, and the dysfunction of four genes (NYX, GRM6, TRPM1, and GPR179) has been described so far...
  101. doi Proline/arginine-rich end leucine-rich repeat protein converts stem cells to ligament tissue and Zn(II) influences its nuclear expression
    Michiyo Tsuru
    Department of Orthopaedic Surgery, School of Medicine, Kurume University, Kurume, Japan
    Stem Cells Dev 22:2057-70. 2013
    ..This important finding may lead to treatments for gonarthrosis, cruciate ligament, and periodontal ligament ruptures, and ossification of the posterior longitudinal ligament. ..

Research Grants15

  1. Mouse Model of DBC Dysfunction
    Neal S Peachey; Fiscal Year: 2012
    ..by defects in depolarizing bipolar cell (DBC) signal transduction and in patients has been linked to mutations in NYX, GRM6 or TRPM1...
  2. Ganglion Cell Function in Retinal Disease
    Maureen A McCall; Fiscal Year: 2013
    ..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. ISOLATION OF CONGENITAL STATIONARY NIGHT BLINDNESS GENES
    Ronald G Gregg; Fiscal Year: 2013
    ..Mutations in GRM6, NYX, TRPM1 and GPR179 cause cCSNB. The mechanism by which mGluR6 signals TRPM1 is largely unknown...
  4. Mechanisms for regulation of cell adhesion and migration
    Julie L Kadrmas; Fiscal Year: 2013
    ..abstract_text> ..
  5. The Role of FBXL4 in T-cell Acute Lymphoblastic Leukemia
    JULIE ERIKA M HAYDU; Fiscal Year: 2013
    ..Overall, these studies will characterize the roles and mechanisms of FBXL4 in the pathogenesis of T-ALL. ..
  6. LRIG Proteins in mammary gland development and carcinogenesis
    COLLEEN ANN SWEENEY; Fiscal Year: 2013
    ..In Aim 2, we will examine the role of Lrig1 in crosstalk between the estrogen receptor-a and ErbB2 with implications for endocrine resistance. ..
  7. Signal Termination by PHLPP, PH domain Leucine-rich repeat Protein Phosphatase
    Alexandra C Newton; Fiscal Year: 2013
    ..In addition, we will address the roles of PHLPP1 and PHLPP2 in prostate cancer using a mouse model and in breast cell growth using a 3D culture model. ..
  8. LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTS
    Yongwon Choi; Fiscal Year: 2009
    ....
  9. Zebrafish Mutant Mapping Facility
    Ronald Gregg; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  10. Genetic Control of Schwann Cell Differentiation
    JOHN RUTLEDGE BERMINGHAM; Fiscal Year: 2011
    ..By understanding how the Lgi4 protein controls Schwann cell development, we will establish new avenues for the treatment of myelin disorders and nerve injury. ..
  11. Oral spirochetes: molecular genetic analysis
    Ashu Sharma; Fiscal Year: 2004
    ..pallidum, may play a role in periodontitis will be examined. These approaches should increase understanding of the molecular basis for the pathogenicity of spirochetes. ..
  12. MOLECULAR GENETIC ANALYSIS OF S. MUTANS CARIOGENICITY
    Ashu Sharma; Fiscal Year: 2004
    ..The specific aims of this proposal are designed to provide new information regarding essential virulence factors of S. mutans which could be exploited to design novel anticaries strategies. ..
  13. PROTEIN KINASE C AND PHOTORECEPTORS
    ALEXANDRA NEWTON; Fiscal Year: 2002
    ..Specifically, the effect of this phosphorylation on rhodopsin s macromolecular interactions (transducin coupling, arrestin binding) will be explored. ..
  14. The role of nyctalopin in the mammalian retina
    CATHERINE MORGANS; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): 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 ..
  15. Calcium channels at ribbon synapses in the retina
    CATHERINE MORGANS; Fiscal Year: 2008
    ..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. ..