Genomes and Genes
Gene Symbol: NYX
Alias: CLRP, CSNB1, CSNB1A, CSNB4, NBM1, leucine-rich repeat protein
Publications143 found, 100 shown here
- Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night BlindnessNaheed W Khan
National Eye Institute, Bldg 31 Room 6A03, 31 Center Drive, MSC 2510, Bethesda, MD 20892 2110, USA
J Neurophysiol 93:481-92. 2005Retinal 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...
- The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat proteinC 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)...
- CSNB1 in Chinese families associated with novel mutations in NYXXueshan 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...
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessN 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...
- Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria 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...
- Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindnessChristina 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...
- Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX geneFelix K Jacobi
Molekulargenetisches Labor Universitäts Augenklinik, Tubingen, Germany
Graefes Arch Clin Exp Ophthalmol 240:822-8. 2002To 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.
- Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindnessR 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.
- Structural macromolecules and supramolecular organisation of the vitreous gelP 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....
- Blue-on-yellow perimetry in the complete type of congenital stationary night blindnessH Terasaki
Department of Ophthalmology, Nagoya University School of Medicine, Japan
Invest Ophthalmol Vis Sci 40:2761-4. 1999To 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).
- Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindnessKeith Bradshaw
Ophthalmology Department, Addenbrooke s Hospital, Hills Road, Cambridge, UK
Doc Ophthalmol 107:155-64. 2003STRs and dark-adapted ERGs were recorded in nine normal subjects, nine patients with XLRS, 11 patients with CSNB1 and one patient with CSNB2...
- 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-p11.2O 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)...
- Localization of the mouse nob (no b-wave) gene to the centromeric region of the X chromosomeS 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...
- Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindnessRonald G Gregg
Department of Biochemistry and Molecular Biology, University of Louisville, KY 40202, USA
J Neurophysiol 98:3023-33. 2007Mutations in the NYX gene that encodes the protein nyctalopin cause congenital stationary night blindness type 1...
- Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX geneH P Scholl
Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital Tubingen, Germany
Invest Ophthalmol Vis Sci 42:2728-36. 2001To 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.
- TRPM1 mutations are associated with the complete form of congenital stationary night blindnessMakoto 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)...
- 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...
- Postreceptoral contributions to the light-adapted ERG of mice lacking b-wavesSuguru 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...
- Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chickN 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...
- Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogramChristina 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...
- Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian familyC 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...
- Congenital stationary night blindness: report of an autosomal recessive family and linkage analysisMarc 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...
- A potential spontaneous rat model of X-linked congenital stationary night blindnessZuoming 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)...
- Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindnessDonald 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)...
- Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng 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...
- Genotyping microarray for CSNB-associated genesChristina 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....
- Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathyKeith 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...
- Differential adherence of osteoarthritis and rheumatoid arthritis synovial fibroblasts to cartilage and bone matrix proteins and its implication for osteoarthritis pathogenesisJ 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...
- Retrospective evaluation of 131I deposition density and thyroid dose in Poland after the Chernobyl accidentZofia 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...
- Molecular characterization and cellular localization of TpLRR, a processed leucine-rich repeat protein of Treponema pallidum, the syphilis spirocheteD 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...
- The C-terminal tail of Yersinia pseudotuberculosis YopM is critical for interacting with RSK1 and for virulenceMelissa 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...
- Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selectionJ 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...
- Complement inhibitor C4b-binding protein interacts directly with small glycoproteins of the extracellular matrixKaisa E Happonen
Department of Laboratory Medicine, Wallenberg Laboratory, University Hospital Malmo, Lund University, Malmo, Sweden
J Immunol 182:1518-25. 2009....
- The CRL2LRR-1 ubiquitin ligase regulates cell cycle progression during C. elegans developmentJorge 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...
- FBXL16 is a novel E2F1-regulated gene commonly upregulated in p16INK4A- and p14ARF-silenced HeLa cellsKazuyuki 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...
- Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoosporesReena 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...
- Tannerella forsythia-induced alveolar bone loss in mice involves leucine-rich-repeat BspA proteinA 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...
- TLRR (lrrc67) interacts with PP1 and is associated with a cytoskeletal complex in the testisRong 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....
- Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigenMohammad Alimohammadi
University Hospital, Uppsala University, Uppsala, Sweden
N Engl J Med 358:1018-28. 2008....
- An evolutionarily conserved leucine-rich repeat protein CLERC is a centrosomal protein required for spindle pole integrityYoshinori 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...
- A molecular platform in neurons regulates inflammation after spinal cord injuryJuan 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...
- CUL-2 and ZYG-11 promote meiotic anaphase II and the proper placement of the anterior-posterior axis in C. elegansJi 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...
- A leucine-rich repeat protein is required for growth promotion and enhanced seed production mediated by the endophytic fungus Piriformospora indica in Arabidopsis thalianaBationa 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...
- Neuronal leucine-rich repeat protein-3 amplifies MAPK activation by epidermal growth factor through a carboxyl-terminal region containing endocytosis motifsKatsumi 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...
- LeSTIG1, an extracellular binding partner for the pollen receptor kinases LePRK1 and LePRK2, promotes pollen tube growth in vitroWeihua 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...
- The Pseudomonas syringae type III effector AvrRpm1 induces significant defenses by activating the Arabidopsis nucleotide-binding leucine-rich repeat protein RPS2Min 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....
- Neonicotinoid clothianidin adversely affects insect immunity and promotes replication of a viral pathogen in honey beesGennaro 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. ..
- [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.
- Relaxation-based structure refinement and backbone molecular dynamics of the dynein motor domain-associated light chainHongwei 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...
- Structural analysis of yoked chorionic gonadotropin-luteinizing hormone receptor ectodomain complexes by circular dichroic spectroscopyGregory 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...
- Suppression of survival signalling pathways by the phosphatase PHLPPAudrey 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...
- PHLPP1 gene deletion protects the brain from ischemic injuryBo 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...
- Optimization of brush-like cationic copolymers for nonviral gene deliveryHua 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...
- NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasomeCecilia 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....
- Pleckstrin homology domain leucine-rich repeat protein phosphatase (PHLPP): a new player in cell signalingNoel 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...
- Prevalence and significance of NALP5 autoantibodies in patients with idiopathic hypoparathyroidismNeeraj 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...
- Serine/threonine kinase akt activation regulates the activity of retinal serine/threonine phosphatases, PHLPP and PHLPPLYogita Kanan
Departments of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
J Neurochem 113:477-88. 2010....
- Localisation of opticin in human proliferative retinal diseaseD 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...
- Protein degradation and iron homeostasisJoel 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...
- Opticin production is reduced by hypoxia and VEGF in human retinal pigment epithelium via MMP-2 activationJin Ma
Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jifang Road, Hangzhou 310009, China
Cytokine 59:100-7. 2012Opticin, a small leucine rich repeat protein (SLRP) contributes to vitreoretinal adhesion...
- Active site inhibitors protect protein kinase C from dephosphorylation and stabilize its mature formChristine 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...
- Some strains of Plasmodium falciparum, a human malaria parasite, evade the complement-like system of Anopheles gambiae mosquitoesAlvaro 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...
- Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindnessQin Wang
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
Int J Mol Med 30:521-6. 2012The 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...
- TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle 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...
- Blocking and triggering of plant immunity by Pseudomonas syringae effector AvrPtoNa 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...
- Proteolysis of a negative regulator of innate immunity is dependent on resistance genes in tomato and Nicotiana benthamiana and induced by multiple bacterial effectorsYao 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...
- A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindnessYonghao 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)...
- Analysis of intimal proteoglycans in atherosclerosis-prone and atherosclerosis-resistant human arteries by mass spectrometryPaul 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...
- Expression and regulation of mouse SERDIN1, a highly conserved cardiac-specific leucine-rich repeat proteinIgor 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...
- Synleurin, a novel leucine-rich repeat protein that increases the intensity of pleiotropic cytokine responsesWei 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...
- Functional characterization of podocan, a member of a new class in the small leucine-rich repeat protein familyRyoko 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....
- Molecular basis for the RIN4 negative regulation of RPS2 disease resistanceBrad 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...
- Feedback regulation of Drosophila BMP signaling by the novel extracellular protein larval translucidaMilán Szuperák
Stowers Institute for Medical Research, Kansas City, MO 64110, USA
Development 138:715-24. 2011....
- PHLPP1 splice variants differentially regulate AKT and PKCα signaling in hippocampal neurons: characterization of PHLPP proteins in the adult hippocampusTravis C Jackson
Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, Florida 32610 0244, USA
J Neurochem 115:941-55. 2010Pleckstrin 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...
- The nucleotide-binding domain of NLRC5 is critical for nuclear import and transactivation activityTorsten 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...
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle 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 ..
- Molecular mechanisms of synaptic specificity in developing neural circuitsMegan 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...
- LRRC19, a novel member of the leucine-rich repeat protein family, activates NF-kappaB and induces expression of proinflammatory cytokinesLimin 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...
- Molecularly imprinted polymers by reversible addition-fragmentation chain transfer precipitation polymerization for preconcentration of atrazine in food matricesShoufang 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. 2011Controlled/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...
- Perception of the Arabidopsis danger signal peptide 1 involves the pattern recognition receptor AtPEPR1 and its close homologue AtPEPR2Elzbieta 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...
- Gain and loss of extracellular molecules in sporadic inclusion body myositis and polymyositis--a proteomics-based studyKathrin 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...
- Initiation and progression of axonopathy in experimental autoimmune encephalomyelitisAthena M Soulika
Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine, Sacramento, California 95817, USA
J Neurosci 29:14965-79. 2009....
- [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...
- The Salmonella type III secretion effector, salmonella leucine-rich repeat protein (SlrP), targets the human chaperone ERdj3Joaquín Bernal-Bayard
Departamento de Genetica, Facultad de Biologia, Universidad de Sevilla, Apartado 1095, 41080 Sevilla, Spain
J Biol Chem 285:16360-8. 2010....
- WRR4, a broad-spectrum TIR-NB-LRR gene from Arabidopsis thaliana that confers white rust resistance in transgenic oilseed Brassica cropsMohammad 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...
- [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...
- 14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localizationR 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...
- 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) proteinCapucine 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...
- Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localizationNicolas 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...
- Plasmodium falciparum dynein light chain 1 interacts with actin/myosin during blood stage developmentWassim 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...
- Construction of a large extracellular protein interaction network and its resolution by spatiotemporal expression profilingStephen 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...
- Identification and characterization of the integrin alpha2beta1 binding motif in chondroadherin mediating cell attachmentLisbet 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...
- PP1 forms an active complex with TLRR (lrrc67), a putative PP1 regulatory subunit, during the early stages of spermiogenesis in miceRong 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 ..
- New biochemical approaches towards understanding the Parkinson's disease-associated kinase, LRRK2Geou 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...
- Ribosome-binding protein p34 is a member of the leucine-rich-repeat-protein superfamilyT 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...
- Genotype-phenotype correlation in British families with X linked congenital stationary night blindnessL 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...
- LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortexLaura 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....
- Structure-activity relationships of snake toxins targeting platelet receptors, glycoprotein Ib-IX-V and glycoprotein VIRobert 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...
- The leucine-rich repeat protein LRIG1 is a negative regulator of ErbB family receptor tyrosine kinasesMelanie B Laederich
University of California Davis Cancer Center, Sacramento, California 95817, USA
J Biol Chem 279:47050-6. 2004....
- Positional information and mobile transcriptional regulators determine cell pattern in the Arabidopsis root epidermisLiam Dolan
Department of Cell and Developmental Biology, John Innes Centre, Norwich NR4 7UH, UK
J Exp Bot 57:51-4. 2006....
- The claw paw mutation reveals a role for Lgi4 in peripheral nerve developmentJohn 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...
- LEUCINE-RICH REPEAT PROTEIN LRRc17 AND OSTEOCLASTSYongwon Choi; Fiscal Year: 2009....
- Zebrafish Mutant Mapping FacilityRonald Gregg; Fiscal Year: 2007..unreadable] [unreadable]..
- The role of nyctalopin in the mammalian retinaCATHERINE MORGANS; Fiscal Year: 2006unreadable] 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 ..
- Calcium channels at ribbon synapses in the retinaCATHERINE 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. ..