rapsyn

Summary

Gene Symbol: rapsyn
Description: receptor-associated protein of the synapse
Alias: RAPSYN, RNF205, 43 kDa receptor-associated protein of the synapse, 43 kda postsynaptic protein, RING finger protein 205, acetylcholine receptor-associated 43 kda protein
Species: human

Top Publications

  1. ncbi Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1
    A Buckel
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom
    Genomics 35:613-6. 1996
  2. ncbi Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex
    E D Apel
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neuron 15:115-26. 1995
  3. ncbi Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold
    E D Apel
    Department of Molecular Biology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neuron 18:623-35. 1997
  4. ncbi N-CAM, 43K-rapsyn, and S-laminin mRNAs are concentrated at synaptic sites in muscle fibers
    L M Moscoso
    Department of Anatomy, Washington University School of Medicine, St. Louis, Missouri 63110, USA
    Mol Cell Neurosci 6:80-9. 1995
  5. ncbi Neuromuscular junction channelopathies: a brief overview
    John Newsom-Davis
    University of Oxford, Department of Clinical Neurology, Oxford, UK
    Acta Neurol Belg 105:181-6. 2005
  6. doi Congenital myasthenic syndromes and the formation of the neuromuscular junction
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Ann N Y Acad Sci 1132:99-103. 2008
  7. ncbi [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse]
    Kinji Ohno
    Division of Neurogenetics, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    Nihon Shinkei Seishin Yakurigaku Zasshi 29:145-51. 2009
  8. doi Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes
    Raffaella Brugnoni
    Laboratory NBS Biotech, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol 257:1119-23. 2010
  9. ncbi Differential targeting of components of the dystrophin complex to the postsynaptic membrane
    S Marchand
    Biologie Cellulaire des Membranes, Institut Jacques Monod, UMR 7592, CNRS Universités Paris 6, Paris 7, 2 place Jussieu, 75251 Paris Cedex 05, France
    Eur J Neurosci 13:221-9. 2001
  10. ncbi Current understanding of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Curr Opin Pharmacol 5:308-21. 2005

Scientific Experts

Detail Information

Publications132 found, 100 shown here

  1. ncbi Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1
    A Buckel
    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom
    Genomics 35:613-6. 1996
    We have isolated and sequenced cDNA clones for the human 43-kDa acetylcholine receptor-associated protein rapsyn. The cDNA encodes a 412-amino-acid protein that has a predicted molecular mass of 46,330 Da and shows 96% sequence identity ..
  2. ncbi Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex
    E D Apel
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neuron 15:115-26. 1995
    The 43 kDa AChR-associated protein rapsyn is required for the clustering of nicotinic acetylcholine receptors (AChRs) at the developing neuromuscular junction, but the functions of other postsynaptic proteins colocalized with the AChR are ..
  3. ncbi Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold
    E D Apel
    Department of Molecular Biology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neuron 18:623-35. 1997
    ..The receptor tyrosine kinase MuSK is a component of the agrin receptor, while the cytoplasmic protein rapsyn is necessary for the clustering of AChRs and all other postsynaptic membrane components studied to date...
  4. ncbi N-CAM, 43K-rapsyn, and S-laminin mRNAs are concentrated at synaptic sites in muscle fibers
    L M Moscoso
    Department of Anatomy, Washington University School of Medicine, St. Louis, Missouri 63110, USA
    Mol Cell Neurosci 6:80-9. 1995
    ..cell adhesion molecule (N-CAM) and for an acetylcholine receptor-associated cytoskeletal protein (43K-rapsyn). In contrast, RNAs encoding proteins present throughout the muscle were distributed all along the muscle fiber...
  5. ncbi Neuromuscular junction channelopathies: a brief overview
    John Newsom-Davis
    University of Oxford, Department of Clinical Neurology, Oxford, UK
    Acta Neurol Belg 105:181-6. 2005
    ..The Congenital Myasthenic Syndromes are a group of genetically determined heterogeneous disorders, usually recessively inherited. The commonest mutation sites appear to be the acetylcholine receptor epsilon-subunit and rapsyn.
  6. doi Congenital myasthenic syndromes and the formation of the neuromuscular junction
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Ann N Y Acad Sci 1132:99-103. 2008
    ..Analysis of the mutations in the AChR-clustering protein, rapsyn, show diverse causes for defective AChR localization and suggest that the common mutation rapsyn-N88K results in ..
  7. ncbi [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse]
    Kinji Ohno
    Division of Neurogenetics, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    Nihon Shinkei Seishin Yakurigaku Zasshi 29:145-51. 2009
    ..4) Rapsyn clusters AChR at the endplate, and its defects cause endplate AChR deficiency...
  8. doi Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes
    Raffaella Brugnoni
    Laboratory NBS Biotech, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol 257:1119-23. 2010
    ..The defects are mainly mutations in the muscle acetylcholine receptor, or associated proteins rapsyn and Dok-7...
  9. ncbi Differential targeting of components of the dystrophin complex to the postsynaptic membrane
    S Marchand
    Biologie Cellulaire des Membranes, Institut Jacques Monod, UMR 7592, CNRS Universités Paris 6, Paris 7, 2 place Jussieu, 75251 Paris Cedex 05, France
    Eur J Neurosci 13:221-9. 2001
    ..We previously demonstrated that acetylcholine receptors and rapsyn, the 43-kDa receptor-associated protein at the synapse, are cotargeted to the postsynaptic membrane via the ..
  10. ncbi Current understanding of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Curr Opin Pharmacol 5:308-21. 2005
    ..mutations in proteins such as the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, MuSK and Na(v)1.4...
  11. pmc Control of rapsyn stability by the CUL-3-containing E3 ligase complex
    Seunghee Nam
    Research Center for Cellulomics, Institute of Molecular Biology and Genetics, School of Biological Sciences, Seoul National University, 151 742 Seoul, Korea
    J Biol Chem 284:8195-206. 2009
    b>Rapsyn is a postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. Here we report the mechanism for posttranslational control of rapsyn protein stability...
  12. pmc IgG1 antibodies to acetylcholine receptors in 'seronegative' myasthenia gravis
    Maria Isabel Leite
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK
    Brain 131:1940-52. 2008
    ..We expressed recombinant AChR subunits with the clustering protein, rapsyn, in human embryonic kidney cells and tested for binding of antibodies by immunofluorescence...
  13. doi Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients
    Espen Homleid Alseth
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Muscle Nerve 43:574-7. 2011
    ..Because late-onset congenital myasthenic syndromes (CMSs) due to RAPSN or DOK7 mutations may be mistaken for SNMG, we investigated their frequency in a nationwide SNMG cohort...
  14. ncbi Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction
    Andrew G Engel
    Neuromuscular Disease Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Ann N Y Acad Sci 998:138-60. 2003
    ..In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane.
  15. ncbi Neural agrin induces ectopic postsynaptic specializations in innervated muscle fibers
    T Meier
    Institute of Physiology, University of Basel, CH 4051 Basel, Switzerland
    J Neurosci 17:6534-44. 1997
    ..AChR clusters: laminin-beta2, MuSK, phosphotyrosine-containing proteins, beta-dystroglycan, utrophin, and rapsyn. These components have been implicated to play a role in the differentiation of neuromuscular junctions...
  16. ncbi Specific phosphorylation of Torpedo 43K rapsyn by endogenous kinase(s) with thiamine triphosphate as the phosphate donor
    H O Nghiêm
    CNRS UA D 1284, Neurobiologie moleculaire, Institut Pasteur, 75724 Paris Cedex, France
    FASEB J 14:543-54. 2000
    43K rapsyn is a peripheral protein specifically associated with the nicotinic acetylcholine receptor (nAChR) present in the postsynaptic membrane of the neuromuscular junction and of the electrocyte, and is essential for its clustering...
  17. doi Wnt/beta-catenin signaling suppresses Rapsyn expression and inhibits acetylcholine receptor clustering at the neuromuscular junction
    Jia Wang
    Institute of Neuroscience, State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai, China
    J Biol Chem 283:21668-75. 2008
    ..we report that Wnt3a negatively regulates acetylcholine receptor (AChR) clustering by repressing the expression of Rapsyn, an AChR-associated protein essential for AChR clustering...
  18. pmc Identification of a motif in the acetylcholine receptor beta subunit whose phosphorylation regulates rapsyn association and postsynaptic receptor localization
    Lucia S Borges
    Department of Anesthesiology and Physiology, University of California, Davis, Davis, California 95616, USA
    J Neurosci 28:11468-76. 2008
    ..the acetylcholine receptor (AChR) is specifically clustered in the postsynaptic membrane via interactions with rapsyn and other scaffolding proteins...
  19. ncbi Myasthenia gravis experimentally induced with muscle-specific kinase
    Kazuhiro Shigemoto
    Department of Preventive Medicine, Ehime University School of Medicine, Ehime, Japan
    Ann N Y Acad Sci 1132:93-8. 2008
    ..membranes of neuromuscular junctions (NMJ) and forms complexes with acetylcholine receptors (AChR) and rapsyn. MuSK is activated by agrin, which is released from motoneurons, and induces AChR clustering and subsequent ..
  20. ncbi A stromal myoid cell line provokes thymic T-cell immigration at the second and third gestational trimesters
    M Lambropoulou
    Democritus University of Thrace Alexandroupolis, Department of Histology Embryology
    Rev Med Chir Soc Med Nat Iasi 111:710-6. 2007
    ..and express muscle proteins including myosin, desmin, acetylcholine receptor (AChR), C-protein, MyoD, troponin T, rapsyn, and utrophin...
  21. pmc Modulation of agrin-induced acetylcholine receptor clustering by extracellular signal-regulated kinases 1 and 2 in cultured myotubes
    Mendell Rimer
    Department of Neuroscience and Experimental Therapeutics, College of Medicine, Texas A and M Health Science Center, College Station, Texas 77843, USA
    J Biol Chem 285:32370-7. 2010
    ..Two critical downstream components of this signaling cascade, Dox-7 and rapsyn, have been identified. However, additional intracellular essential elements remain unknown...
  22. doi Nuclear factor kappaB controls acetylcholine receptor clustering at the neuromuscular junction
    Jia Wang
    Institute of Neuroscience and State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
    J Neurosci 30:11104-13. 2010
    ..and requires a number of intracellular signal or structural proteins, including AChR-associated scaffold protein Rapsyn. Here, we report a role of nuclear factor kappaB (NF-kappaB), a well known transcription factor involved in a ..
  23. pmc The mammalian 43-kD acetylcholine receptor-associated protein (RAPsyn) is expressed in some nonmuscle cells
    L S Musil
    Department of Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110
    J Cell Biol 108:1833-40. 1989
    ..electric organ and vertebrate neuromuscular junctions contain the receptor-associated protein of the synapse (RAPsyn) (previously referred to as the 43K protein), a nonactin, 43,000-Mr peripheral membrane protein associated with ..
  24. ncbi Molecular organization of the extraocular muscle neuromuscular junction: partial conservation of and divergence from the skeletal muscle prototype
    Sangeeta Khanna
    Department of Ophthalmology, Case Western Reserve University and The Research Institute of University Hospitals of Cleveland, Cleveland, Ohio 44106 5068, USA
    Invest Ophthalmol Vis Sci 44:1918-26. 2003
    ....
  25. ncbi Agrin pathway is controlled by leukemia inhibitory factor (LIF) in murine implantation
    Jumpei Terakawa
    Department of Veterinary Anatomy, Faculty of Agriculture, Yamaguchi University
    J Reprod Dev 55:293-8. 2009
    ..well known as the molecule that aggregates acetylcholine receptor (AChR) through muscle specific kinase (MuSK) and rapsyn at neuromuscular junctions...
  26. doi MuSK levels differ between adult skeletal muscles and influence postsynaptic plasticity
    Anna R Punga
    Department of Neurobiology Pharmacology, Biozentrum, University of Basel, Basel, Switzerland
    Eur J Neurosci 33:890-8. 2011
    ..receptor (AChR) α subunit followed a similar expression pattern, whereas expression of Dok-7, Lrp4 and rapsyn was comparable between the muscles...
  27. pmc alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering
    G Clement Dobbins
    Institute of Molecular Medicine and Genetics, Department of Neurobiology, Medical College of Georgia, Augusta, Georgia 30912, USA
    Mol Brain 1:18. 2008
    ..We show that α-actinin, a protein known to cross-link F-actin, interacts with rapsyn, a scaffold protein essential for neuromuscular junction formation...
  28. ncbi Myogenin-dependent nAChR clustering in aneural myotubes
    Peter C D Macpherson
    Molecular and Behavioral Neurosciences Institute and Department of Biological Chemistry, University of Michigan, Ann Arbor, MI 48109, USA
    Mol Cell Neurosci 31:649-60. 2006
    ..This clustering is dependent on activation of the tyrosine kinase, MuSK, which signals receptor clustering via a rapsyn-dependent mechanism...
  29. doi [Synapse formation and regeneration]
    S d'Houtaud
    Service de Neurochirurgie, CHU La Miletrie, 2, rue de la Miletrie, BP 577, 86021 Poitiers Cedex, France
    Neurochirurgie 55:S49-62. 2009
    ..formation require several postsynaptic molecular agents including agrin, the tyrosine kinase receptor MuSK and rapsyn. The agrin or motoneuron dependence of this process continues to be debated while the following steps of axonal ..
  30. ncbi The torpedo electrocyte: a model system to study membrane-cytoskeleton interactions at the postsynaptic membrane
    J Cartaud
    Biologie Cellulaire des Membranes, Institut Jacques Monod, UMR 9275, CNRS, Universités Paris 6 et Paris7, 75251 Paris Cedex 05, France
    Microsc Res Tech 49:73-83. 2000
    ..and the extracellular matrix involved in the assembly of the postsynaptic membrane, namely the 43-kDa protein-rapsyn, the dystrophin/utrophin complex, agrin, and others...
  31. ncbi Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering
    Martijn Moransard
    Department of Neurochemistry, Brain Research Institute, University of Zurich, CH 8057 Zurich, Switzerland
    J Biol Chem 278:7350-9. 2003
    The acetylcholine receptor (AChR)-associated protein rapsyn is essential for neuromuscular synapse formation and clustering of AChRs, but its mode of action remains unclear...
  32. pmc Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms
    Joachim Piguet
    Laboratoire de Chimie Physique des Polymeres et Membranes, Ecole Polytechnique Federale de Lausanne, CH 1015 Lausanne, Switzerland
    J Biol Chem 286:363-9. 2011
    ..b>Rapsyn plays a central role in directing and clustering nAChR during cellular differentiation and neuromuscular junction ..
  33. pmc Role of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivo
    Ira Verena Röder
    Institute of Toxicology and Genetics, Research Center Karlsruhe, Eggenstein Leopoldshafen, Germany
    PLoS ONE 3:e3871. 2008
    ..g. dilute lethal phenotype in mice). We examined the role of myosin Va in the postsynaptic plasticity of the vertebrate neuromuscular junction (NMJ)...
  34. ncbi The tetratricopeptide repeat domains of rapsyn bind directly to cytoplasmic sequences of the muscle-specific kinase
    C Antolik
    Department of Physiology, University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, MD 21201, USA
    Neuroscience 141:87-100. 2006
    ..Acetylcholine receptor clustering is also dependent on the postsynaptic scaffolding protein, rapsyn, which binds to acetylcholine receptors...
  35. ncbi Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse
    A Cartaud
    Biologie Cellulaire des Membranes, , Institut Jacques Monod, UMR 9922, , 2 place Jussieu, , France
    J Biol Chem 273:11321-6. 1998
    ..Co-transfection experiments in which alpha- and beta-dystroglycan form a complex with AChR and rapsyn, a peripheral protein required for AChR clustering (Apel, D. A., Roberds, S. L., Campbell, K. P., and Merlie, J. P...
  36. ncbi Beta-catenin regulates acetylcholine receptor clustering in muscle cells through interaction with rapsyn
    Bin Zhang
    Program of Developmental Neurobiology and Department of Neurology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, Georgia 30912, USA
    J Neurosci 27:3968-73. 2007
    ..Here we demonstrate that the beta-catenin interacts with rapsyn, a molecule key for AChR clustering...
  37. ncbi Kinase- and rapsyn-independent activities of the muscle-specific kinase (MuSK)
    P A Bromann
    Department of Anatomy and Neurobiology, Washington University Medical School, 660 South Euclid, St Louis, MO 63110, USA
    Neuroscience 125:417-26. 2004
    ..kinase activity to promote clustering of AChRs and MuSK itself with a cytoplasmic, receptor-associated protein, rapsyn. These studies, however, have used soluble forms of agrin, whereas agrin is cell- or matrix-attached in vivo...
  38. ncbi The dynamics of the rapsyn scaffolding protein at individual acetylcholine receptor clusters
    Emile Bruneau
    Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA
    J Biol Chem 282:9932-40. 2007
    b>Rapsyn, a cytoplasmic receptor-associated protein, is required for the clustering of acetylcholine receptors (AChRs). Although AChR dynamics have been extensively studied, little is known about the dynamics of rapsyn...
  39. ncbi Thymic myoid cells express high levels of muscle genes
    Laurence Mesnard-Rouiller
    Laboratoire de Physiologie Thymique, CNRS UMR 8078, IPSC, Hopital Marie Lannelongue, 133 avenue de la Resistance, 92350 Le Plessis Robinson, France
    J Neuroimmunol 148:97-105. 2004
    ..by real-time RT-PCR, the expression of 12 muscle genes (the five subunits of acetylcholine receptor, Musk, rapsyn, utrophin, ErbB2, ErbB3, troponin T, and MCK) in a human thymic myoid cell line (MITC), compared to thymic ..
  40. ncbi Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations
    R A Maselli
    Clin Genet 72:63-5. 2007
  41. ncbi Lipid rafts serve as a signaling platform for nicotinic acetylcholine receptor clustering
    Dan Zhu
    Program of Developmental Neurobiology, Institute of Molecular Medicine and Genetics, Department of Neurology, Medical College of Georgia, Augusta, Georgia 30912, USA
    J Neurosci 26:4841-51. 2006
    ..b>Rapsyn, an intracellular protein necessary for AChR clustering, is located constitutively in lipid rafts, but its ..
  42. ncbi Deletion of N-terminal rapsyn domains disrupts clustering and has dominant negative effects on clustering of full-length rapsyn
    S A Eckler
    Department of Pharmacological and Physiological Science, St Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA
    Neuroscience 131:661-70. 2005
    The peripheral muscle membrane protein rapsyn is essential for the formation and maintenance of high density acetylcholine receptor aggregates at the neuromuscular synapse...
  43. pmc The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
    J S Müller
    J Med Genet 41:e104. 2004
  44. ncbi Regulation of acetylcholine receptor clustering by the tumor suppressor APC
    Junmei Wang
    Department of Neurobiology, University of Pittsburgh School of Medicine, 3500 Terrace Street, Room E1440 BST, Pittsburgh, Pennsylvania 15261, USA
    Nat Neurosci 6:1017-8. 2003
    ..Agrin acts by activating the muscle-specific kinase MuSK and inducing coaggregation of the 43-kDa protein rapsyn with AChRs on muscle cell membrane. The signaling mechanism downstream of MuSK is poorly defined...
  45. ncbi [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation]
    F Andreux
    INSERM 582 et Institut de Myologie, Hopital de la Pitie Salpetriere
    Rev Neurol (Paris) 160:163-76. 2004
    ..kinetic abnormalities is caused by recessive mutations in AChR genes (mostly epsilon subunit) or by primary rapsyn deficiency, a post synaptic protein involved in AChR concentration...
  46. pmc Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    J Med Genet 41:e8. 2004
  47. ncbi [Congenital myasthenic syndromes]
    Kinji Ohno
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine
    Rinsho Shinkeigaku 52:1159-61. 2012
    ..Second, mutations in the AChR subunits, rapsyn, agrin, MuSK, Dok-7, plectirn, and GFPT1 lead to endplate AChR deficiency...
  48. ncbi Clustering of nicotinic acetylcholine receptors: from the neuromuscular junction to interneuronal synapses
    Kyung Hye Huh
    Department of Neurochemistry, Brain Research Institute, University of Zurich, Switzerland
    Mol Neurobiol 25:79-112. 2002
    ..MuSK, a receptor tyrosine kinase and component of the agrin receptor, and rapsyn, an AChR-associated anchoring protein, play crucial roles in the postsynaptic assembly...
  49. ncbi Neuromuscular synaptogenesis: clustering of acetylcholine receptors revisited
    R Willmann
    Department of Neurochemistry, Brain Research Institute, University of Zurich, Switzerland
    Cell Mol Life Sci 59:1296-316. 2002
    ..Neurally released agrin, acting through the muscle-specific kinase MuSK and rapsyn, then causes further clustering and localization of clusters underneath the nerve terminal...
  50. ncbi Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
    Judy Cossins
    Neurosciences Group, Weatherall Institute of Molecular Medicine, Churchill Hospital, Oxford, UK
    Brain 129:2773-83. 2006
    ..are severely reduced, may be caused by mutations within genes encoding the AChR or the AChR-clustering protein, rapsyn. Most patients have mutations within the rapsyn coding region and are either homozygous for N88K or heteroallelic ..
  51. ncbi A role for the juxtamembrane domain of beta-dystroglycan in agrin-induced acetylcholine receptor clustering
    Joanna Kahl
    Department of Biochemistry, University of Illinois, Urbana, Illinois 61801, USA
    J Neurosci 23:392-402. 2003
    ..but clearly, it requires the receptor tyrosine kinase MuSK (muscle-specific kinase), the intracellular protein rapsyn, an Src-like kinase, and cytoskeletal components...
  52. pmc Current status of the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, United States
    Neuromuscul Disord 22:99-111. 2012
    ..ChAT), the endplate species of acetylcholinesterase (AChE), β2-laminin, the acetylcholine receptor (AChR), rapsyn, plectin, Na(v)1...
  53. doi Rapsyn mediates subsynaptic anchoring of PKA type I and stabilisation of acetylcholine receptor in vivo
    Kyeong Rok Choi
    Institut für Toxikologie und Genetik, Karlsruhe Institute of Technology, Hermann von Helmholtz Platz 1, 76344, Eggenstein Leopoldshafen, Germany
    J Cell Sci 125:714-23. 2012
    ..Here, we show that the AChR-associated protein, rapsyn, interacts with PKA type I in C2C12 and T-REx293 cells as well as in live mouse muscle beneath the neuromuscular ..
  54. doi Congenital myasthenic syndromes in 2012
    Andrew G Engel
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Curr Neurol Neurosci Rep 12:92-101. 2012
    ..proteins identified to date include the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, and Na(v)1...
  55. doi Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
    Karen Gaudon
    AP HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, GH Pitié Salpétrière, Paris, France
    J Med Genet 47:795-6. 2010
    ..here three patients with a characteristic phenotype of recessive CMS and presenting mutation in the gene encoding rapsyn (RAPSN). Familial analysis showed that one allelic mutation failed to be detected by direct sequencing...
  56. pmc Overexpression of rapsyn in rat muscle increases acetylcholine receptor levels in chronic experimental autoimmune myasthenia gravis
    Pilar Martínez-Martínez
    Department of Neurology, Research Institute Brain and Behaviour, University of Maastricht, Maastricht University Hospital, The Netherlands
    Am J Pathol 170:644-57. 2007
    ..receptor (AChR), is clustered and anchored in the postsynaptic membrane of the neuromuscular junction by rapsyn. Previously, we found that overexpression of rapsyn by cDNA transfection protects AChRs in rat muscles from ..
  57. doi Treatment of myasthenia gravis by preventing acetylcholine receptor modulation
    Mario Losen
    Neuroimmunology Group, Department of Neuroscience, Institute of Mental Health and Neuroscience, University of Maastricht, The Netherlands
    Ann N Y Acad Sci 1132:174-9. 2008
    ..Reduction of antigenic modulation by increasing the expression of the receptor-associated anchor protein, rapsyn, or by functionally monovalent competing IgG4 anti-AChR antibodies was shown to prevent MG disease activity...
  58. pmc The actin binding domain of ACF7 binds directly to the tetratricopeptide repeat domains of rapsyn
    C Antolik
    Department of Physiology, University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, MD 21201, USA
    Neuroscience 145:56-65. 2007
    ..While the postsynaptic scaffolding protein rapsyn is vital for high density AChR aggregation, little is known about the mechanism through which AChRs are ..
  59. ncbi [Genetic defects and disorders at the neuromuscular junction]
    Kinji Ohno
    Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Brain Nerve 63:669-78. 2011
    ..Mutations identified to date include (i) muscle nicotinic acetylcholine receptor (AChR) subunits, (ii) rapsyn that anchors and clusters AChRs at the neuromuscular junction, (iii) agrin that is released from the nerve ..
  60. ncbi In vivo distribution of human adipose-derived mesenchymal stem cells in novel xenotransplantation models
    Todd E Meyerrose
    Washington University School of Medicine, Division of Oncology, Hematopoietic Development and Malignancy Section, St Louis, Missouri 63110, USA
    Stem Cells 25:220-7. 2007
    ..Duplex quantitative PCR using human beta-globin and murine rapsyn primers assessed the contribution of human cells to each tissue...
  61. pmc Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes
    P Richard
    Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B and IFR 14, Hopital de la Salpetriere, Paris, France
    J Med Genet 40:e81. 2003
  62. pmc Nicotinic acetylcholine receptor stability at the NMJ deficient in α-syntrophin in vivo
    Isabel Martinez-Pena y Valenzuela
    Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA
    J Neurosci 31:15586-96. 2011
    ..Biochemical analyses show that in muscle cells of adult knock-out α-syn mice, total AChRs and scaffold protein rapsyn are significantly reduced, the 89 kDa and 75 kDa isoforms of tyrosine phosphorylated α-dystrobrevin (α-dbn) 1 (..
  63. doi Glutamatergic reinnervation and assembly of glutamatergic synapses in adult rat skeletal muscle occurs at cholinergic endplates
    Maura Francolini
    Department of Medical Pharmacology, University of Milan and CNR Neuroscience Institute, Via Vanvitelli 32, Milan, Italy
    J Neuropathol Exp Neurol 68:1103-15. 2009
    ..of membranes from reinnervated muscle showed that AMPA receptor subunits GluR1 and GluR2 coimmunoprecipitate with rapsyn, the AChR-anchoring protein at the NMJ...
  64. pmc Dystroglycan versatility in cell adhesion: a tale of multiple motifs
    Chris J Moore
    Department of Biomedical Science, University of Sheffield, Firth Court, Western Bank, Sheffield, S10 2TN, UK
    Cell Commun Signal 8:3. 2010
    ..overlapping functions: in the juxtamembrane region; a nuclear localisation signal, ezrin/radixin/moesin protein, rapsyn and ERK MAP Kinase binding function, and at the C terminus a regulatory tyrosine governing WW, SH2 and SH3 domain ..
  65. pmc Dynamics of the rapsyn scaffolding protein at the neuromuscular junction of live mice
    Emile G Bruneau
    Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA
    J Neurosci 30:614-9. 2010
    ..Here, we focused on the dynamics of rapsyn, a protein required for the clustering and maintenance of acetylcholine receptor (AChR) density at postsynaptic ..
  66. ncbi [Establishment of an xenogeneic acute graft-versus-host disease model in NOD/SCID mice by engraftment of G-CSF mobilized human mononuclear cells]
    Lei Gao
    Department of Hematology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China
    Zhonghua Xue Ye Xue Za Zhi 29:87-91. 2008
    ..To establish an xenogeneic acute graft-versus-host disease model by engraftment of G-CSF mobilized human mononuclear cells into NOD/SCID mice...
  67. doi Congenital myasthenic syndromes in childhood: diagnostic and management challenges
    M Kinali
    The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and Institute of Child Health, University College, London, UK
    J Neuroimmunol 201:6-12. 2008
    ..This guides rational therapy and multidisciplinary management, which may be crucial for survival, particularly in pedigrees where previous deaths have occurred in infancy...
  68. pmc Rapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops
    Y Lee
    Department of Anesthesiology and Physiology and Membrane Biology, University of California Davis, One Shields Avenue, Davis, CA 95616, USA
    Neuroscience 163:222-32. 2009
    ..is regulated by the motoneuron-derived factor, agrin, and requires an intracellular, scaffolding protein called rapsyn. However, it remains unclear where rapsyn binds on the acetylcholine receptor and how their interaction is ..
  69. doi Neural agrin increases postsynaptic ACh receptor packing by elevating rapsyn protein at the mouse neuromuscular synapse
    Jennifer Brockhausen
    School of Medical Sciences Physiology, Bosch Institute, University of Sydney, Sydney, Australia
    Dev Neurobiol 68:1153-69. 2008
    ..aggregates was reduced in 4-week postnatal mice that had reduced amounts of the AChR-associated protein, rapsyn, in the postsynaptic membrane (rapsyn(+/-) mice)...
  70. doi Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy
    Nicole Monnier
    Laboratoire de Biochimie et Génétique Moléculaire and Centre de Référence des Maladies Neuro Musculaires, CHU Grenoble, France
    Neuromuscul Disord 19:118-23. 2009
    ..This first report of the clinical expression of the complete absence of TPM2 in human indicated that TPM2 expression at the early period of prenatal life plays a major role for normal fetal movements...
  71. doi Role of lipid rafts in agrin-elicited acetylcholine receptor clustering
    C Pato
    Institut Jacques Monod, UMR 7592, Centre National de la Recherche Scientifique, Universite Pierre et Marie Curie Paris 6, 2 place Jussieu, Paris, France
    Chem Biol Interact 175:64-7. 2008
    ..content, which are enriched in several signalling postsynaptic components, notably AChR, the agrin receptor MuSK, rapsyn and syntrophin...
  72. ncbi [Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]
    Keiko Ishigaki
    Department of Pediatrics, Tokyo Women s Medical University, School of Medicine, Tokyo
    No To Hattatsu 41:37-42. 2009
    ..Genetic analyses for AchR, Rapsyn, Musk and AChE were negative...
  73. pmc Rapsyn carboxyl terminal domains mediate muscle specific kinase-induced phosphorylation of the muscle acetylcholine receptor
    Y Lee
    Departments of Anesthesiology and Physiology and Membrane Biology, One Shields Avenue, University of California Davis, Davis, CA 95616, USA
    Neuroscience 153:997-1007. 2008
    ..by agrin signaling via the muscle specific kinase (MuSK) and requires an intracellular scaffolding protein called rapsyn. In addition to its structural role, rapsyn is also necessary for agrin-induced tyrosine phosphorylation of the ..
  74. doi Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding
    Pilar Martínez-Martínez
    Department of Neuroscience, School of Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands, Maastricht, The Netherlands
    Neurobiol Dis 35:14-23. 2009
    The receptor-associated protein of the synapse (rapsyn) is required for anchoring and stabilizing the nicotinic acetylcholine receptor (AChR) in the postsynaptic membrane of the neuromuscular junction (NMJ) during development...
  75. pmc Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning
    Yun Liu
    Department of Neuroscience, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75235 9111, USA
    Development 135:1957-67. 2008
    ..branching, increased motoneuron survival, as well as aberrant distribution of acetylcholinesterase (AChE) and rapsyn. However, clustering of muscle specific kinase (MuSK) proceeded normally in the gamma-null muscles...
  76. pmc The role of Wnt/beta-catenin signaling in postsynaptic differentiation
    Jia Wang
    Institute of Neuroscience and Key Laboratory of Neurobiology Chinese Academy of Sciences Shanghai P R China
    Commun Integr Biol 1:158-60. 2008
    ..the underlying mechanism and found that Wnt/beta-catenin signaling negatively regulated AChR clustering by downregulating the expression of Rapsyn, an AChR-associated protein required for formation and stabilization of AChR clusters.
  77. pmc Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear
    Abdullah A Osman
    Department of Otolaryngology, Washington University School of Medicine, 660 South Euclid Ave, St Louis MO 63110, USA
    Mol Cell Neurosci 38:153-69. 2008
    ..MuSK, rapsyn and RIC-3 are accessory molecules associated with muscle and brain nAChR function...
  78. ncbi Just in time and place: NOS/NO system assembly in neuromuscular junction formation
    D Blottner
    Department of Anatomy 1, Neurobiology Group, Freie Universitat Berlin, Königin Luise Strasse 15, D 14195 Berlin Dahlem, Germany
    Microsc Res Tech 55:171-80. 2001
    ..g., PSD-95, 43K-rapsyn), suggests targeting and assembly of the NO-signaling pathway at postsynaptic membrane components...
  79. ncbi Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'
    C R Slater
    School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Bath, Newcastle upon Tyne, UK
    Brain 129:2061-76. 2006
    ..DNA analysis failed to detect mutations in the genes encoding any of the following proteins: AChR subunits, rapsyn, ColQ, ChAT or muscle-specific kinase...
  80. ncbi Synapse-associated expression of an acetylcholine receptor-inducing protein, ARIA/heregulin, and its putative receptors, ErbB2 and ErbB3, in developing mammalian muscle
    L M Moscoso
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Dev Biol 172:158-69. 1995
    ..Finally, we show that erbB3 is not concentrated at synaptic sites in mutant mice that lack rapsyn, a cytoskeletal protein required for AChR clustering, suggesting that pathways for synaptic AChR expression and ..
  81. ncbi Motoneuron survival is enhanced in the absence of neuromuscular junction formation in embryos
    J Terrado
    Division of Clinical Neuromuscular Research and Department of Anesthesiology, Pharmacology and Surgical Intensive Care, Faculty of Medicine, Centre Medical Universitaire, 1211 Geneva 4, Switzerland
    J Neurosci 21:3144-50. 2001
    ..e., null mutants for agrin, nerve-derived agrin, rapsyn, and MuSK)...
  82. pmc Muscle activity and muscle agrin regulate the organization of cytoskeletal proteins and attached acetylcholine receptor (AchR) aggregates in skeletal muscle fibers
    G Bezakova
    Department of Physiology, University of Oslo, 0317 Oslo, Norway
    J Cell Biol 153:1453-63. 2001
    ..aggregates, which colocalized with longitudinally oriented beta-dystroglycan, dystrophin, utrophin, syntrophin, rapsyn, and beta 2-laminin in denervated unstimulated fibers and with the same but transversely oriented proteins in ..
  83. ncbi Paralytic zebrafish lacking acetylcholine receptors fail to localize rapsyn clusters to the synapse
    F Ono
    Department of Neurobiology and Behavior, State University of New York at Stony Brook, Stony Brook, New York 11794, USA
    J Neurosci 21:5439-48. 2001
    ..Specifically, in the absence of ACh receptors, clusters of the receptor-aggregating protein rapsyn form in the extrasynaptic membrane but generally fail to localize to the subsynaptic region...
  84. ncbi Mass spectrometry of nicotinic acetylcholine receptors and associated proteins as models for complex transmembrane proteins
    Ronald J Lukas
    Division of Neurobiology, Barrow Neurological Institute, 350 West Thomas Road, Phoenix, Arizona 85013, USA
    Anal Biochem 301:175-88. 2002
    ..can be determined for nAChR subunits and for other protein components in Torpedo membrane preparations, such as RAPsyn and Na(+)-K(+)-ATPase alpha and beta subunits...
  85. ncbi Diseases of the neuromuscular junction
    John McConville
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK
    Curr Opin Pharmacol 2:296-301. 2002
    ..Recent advances have revealed agrin, muscle-specific kinase (MuSK) and rapsyn as important signalling elements in the development and maintainance of the molecular architecture of the ..
  86. pmc Laminin-1 redistributes postsynaptic proteins and requires rapsyn, tyrosine phosphorylation, and Src and Fyn to stably cluster acetylcholine receptors
    P Angelo Marangi
    Department of Neurochemistry, Brain Research Institute, University of Zurich, CH 8057, Switzerland
    J Cell Biol 157:883-95. 2002
    ..Laminin-1 also caused extensive coclustering of rapsyn and phosphotyrosine with AChRs, but none of these clusters were observed in rapsyn -/- myotubes...
  87. ncbi The spectrum of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Mol Neurobiol 26:347-67. 2002
    ..mutation in an AChR subunit; endplate AChR deficiency suggested mutations residing in an AChR subunit or in rapsyn; absence of acetylcholinesterase (AChE) from the endplate predicted mutations in the catalytic or collagen-tailed ..
  88. ncbi Congenital myasthenic syndromes: progress over the past decade
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Muscle Nerve 27:4-25. 2003
    ..In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane.
  89. ncbi Promotion of motoneuron survival and branching in rapsyn-deficient mice
    G B Banks
    Department of Physiology and Pharmacology, University of Queensland, St Lucia, Queensland 4072, Australia
    J Comp Neurol 429:156-65. 2001
    ..of synapse formation on motoneuron survival during embryonic development, we counted the number of motoneurons in rapsyn-deficient mice...
  90. ncbi Different functions of fetal and adult AChR subtypes for the formation and maintenance of neuromuscular synapses revealed in epsilon-subunit-deficient mice
    H Schwarz
    Abteilung Zellphysiologie, Max Planck Institut fur medizinische Forschung, Jahnstr 29, D 69120 Heidelberg, Germany
    Eur J Neurosci 12:3107-16. 2000
    ..The decrease in AChR concentration is correlated with a decrease of postsynaptic rapsyn, but has less effect on agrin, a neuronally released aggregating factor for AChRs...
  91. ncbi Induction of dystrophin-associated proteins together with nicotinic acetylcholine receptors by denervation in the absence of dystrophin in skeletal muscles of mdx mice
    T Mitsui
    First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan
    Biochem Biophys Res Commun 224:802-7. 1996
    ..and detected many proteins linked to AChR, including dystrophin, adhalin, beta-dystroglycan, utrophin, rapsyn, and actin...
  92. pmc Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn
    M K Ramarao
    Department of Neurobiology, Harvard Medical School, 220 Longwood Avenue, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 95:4007-12. 1998
    b>Rapsyn, a peripheral membrane protein of skeletal muscle, clusters nicotinic acetylcholine receptors (nAChRs) at high density in the postsynaptic membrane...
  93. ncbi Rapsyn clusters neuronal acetylcholine receptors but is inessential for formation of an interneuronal cholinergic synapse
    G Feng
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 18:4166-76. 1998
    ..A cytoplasmic protein, rapsyn, is essential for AChR clustering in muscle...
  94. ncbi Identification of the mouse muscle 43,000-dalton acetylcholine receptor-associated protein (RAPsyn) by cDNA cloning
    D E Frail
    Department of Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110
    J Biol Chem 263:15602-7. 1988
    ..The deduced sequence of mouse RAPsyn has 412 amino acids and a molecular mass of 46,392 daltons...
  95. ncbi Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn
    M Gautam
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, 660 S Euclid Avenue, St Louis, MO 63110, USA
    Brain Res Dev Brain Res 114:171-8. 1999
    ..junction requires agrin, a nerve-derived signal; MuSK, a critical component of the agrin receptor in muscle; and rapsyn, a protein that interacts with acetylcholine receptors (AChRs)...
  96. ncbi The myristoylated protein rapsyn is cotargeted with the nicotinic acetylcholine receptor to the postsynaptic membrane via the exocytic pathway
    S Marchand
    Biologie Cellulaire des Membranes, , Institut Jacques Monod, , Centre National de la Recherche Scientifique, , 75251, Paris, France
    J Neurosci 20:521-8. 2000
    b>Rapsyn, a 43 kDa protein required to cluster nicotinic acetylcholine receptors (AChRs) at the neuromuscular junction, is tightly associated with the postsynaptic membrane via an N-terminal myristoylated site...
  97. ncbi Functional association between nicotinic acetylcholine receptor and sarcomeric proteins via actin and desmin filaments
    T Mitsui
    First Department of Internal Medicine, School of Medicine, University of Tokushima, Tokushima 770 8503, Japan
    J Cell Biochem 77:584-95. 2000
    ..previously reported to bind to AChR (including dystrophin-dystrophin-associated protein (DAP) complex, utrophin, rapsyn, and actin; Mitsui et al. [1996] Biochem. Biophys. Res. Commun...
  98. ncbi Nerve terminals form but fail to mature when postsynaptic differentiation is blocked: in vivo analysis using mammalian nerve-muscle chimeras
    Q T Nguyen
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 20:6077-86. 2000
    ..nerves entered transplanted muscles derived from mice lacking muscle-specific receptor tyrosine kinase (MuSK) or rapsyn, muscle-specific components required for postsynaptic differentiation...
  99. ncbi E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Hum Mol Genet 12:739-48. 2003
    ..No E-box mutation has been reported to date. RAPSN encodes rapsyn, a 43 kDa postsynaptic peripheral membrane protein that clusters the nicotinic acetylcholine receptor at the motor ..
  100. ncbi Neuromuscular synapses mediate motor axon branching and motoneuron survival during the embryonic period of programmed cell death
    Glen B Banks
    School of Biomedical Sciences, Department of Physiology and Pharmacology and SRC for Bio informatics and Applied Genomics, University of Queensland, 4072, St Lucia, Queensland, Australia
    Dev Biol 257:71-84. 2003
    ..We achieved this by comparing agrin and rapsyn mutant mice that lack acetylcholine receptor (AChR) clusters...

Research Grants68

  1. REGULATION OF ACETYLCHOLINE RECEPTORS ON MUSCLE
    Paul Brehm; Fiscal Year: 2004
    ..Recently, we have shown the defect in one mutant line results from a defective rapsyn gene, and we have succeeded in rescuing the behavioral defect in the mutant fish...
  2. Maturation and Maintenance of the Postsynaptic Apparatus
    Joshua Sanes; Fiscal Year: 2009
    ..at the NMJ in which the proteoglycan z-agrin is a nerve-derived signal, MuSK is its main receptor, and rapsyn is a critical intracellular effector leading to aggregation of acetylcholine receptors...
  3. Maturation and Maintenance of the Postsynaptic Apparatus
    Joshua R Sanes; Fiscal Year: 2010
    ..at the NMJ in which the proteoglycan z-agrin is a nerve-derived signal, MuSK is its main receptor, and rapsyn is a critical intracellular effector leading to aggregation of acetylcholine receptors...
  4. REGULATION OF ACETYLCHOLINESTERASE SYNTHESIS & ASSEMBLY
    RICHARD ROTUNDO; Fiscal Year: 2005
    ..Here we will co-express the major components of the AChE complex including dystroglycan, perlecan, rapsyn, ColQ and AChE to define the necessary components for trafficking ColQ AChE to the cell surface and assembling ..
  5. Development of Cholinergic Synapses in the Inner Ear
    DWAYNE SIMMONS; Fiscal Year: 2009
    ..We will investigate nAChR expression and clustering in transgenic mutant models that lack agrin, rapsyn or MuSK, all shown to be key factors in clustering at the NMJ...
  6. SIGNALING BY MUSK, A COMPONENT OF THE AGRIN RECEPTOR
    STEVEN BURDEN; Fiscal Year: 2010
    ..Third, because mutations in other synaptic genes (e.g. AChR subunits, rapsyn, MuSK, AChE) also cause CMS, mutations that interfere with the function of Lrp4 selectively in muscle may also be ..
  7. SIGNALING BY MUSK, A COMPONENT OF THE AGRIN RECEPTOR
    STEVEN BURDEN; Fiscal Year: 2010
    ..Third, because mutations in other synaptic genes (e.g. AChR subunits, rapsyn, MuSK, AChE) also cause CMS, mutations that interfere with the function of Lrp4 selectively in muscle may also be ..
  8. REGULATION OF ACETYLCHOLINESTERASE SYNTHESIS & ASSEMBLY
    RICHARD ROTUNDO; Fiscal Year: 2009
    ..Here we will co-express the major components of the AChE complex including dystroglycan, perlecan, rapsyn, ColQ and AChE to define the necessary components for trafficking ColQ AChE to the cell surface and assembling ..
  9. Structure-Function Studies of the Receptor Tyrosine Kinase MuSK
    STEVAN HUBBARD; Fiscal Year: 2009
    ..in the redistribution of muscle proteins to the postsynaptic site, including the acetylcholine receptor (AChR), rapsyn, ErbBs and MuSK itself...
  10. Structure-Function Studies of the Receptor Tyrosine Kinase MuSK
    STEVAN HUBBARD; Fiscal Year: 2007
    ..in the redistribution of muscle proteins to the postsynaptic site, including the acetylcholine receptor (AChR), rapsyn, ErbBs and MuSK itself...
  11. Role of Ab1/Arg Kinases in the Formation of the NMJ
    HANNAH TULLY; Fiscal Year: 2004
    ..We will also elucidate the mechanisms by which Abl mediates receptor clustering, including an investigation of whether Abl activity is partially mediated by Rapsyn, a protein known to directly affect receptor clustering.
  12. Regulation of the Synaptic Localization of the nAChR
    Michael Ferns; Fiscal Year: 2007
    ..by inducing phosphorylation of the AChR and altering its association with the intracellular scaffolding protein, rapsyn. We have the following specific aims: (1) To define the role of agrin-induced phosphoryation of the beta subunit ..
  13. AXONAL PATHWAY SELECTION IN THE ZEBRAFISH EMBRYO
    Michael Granato; Fiscal Year: 2009
    ..There, the prevailing model is that Agrin signals through MuSK to recruit the intracellular linker Rapsyn, which "clusters acetylcholine receptors (AChRs) on the postsynaptic membrane of neuromuscular junctions...
  14. Analysis of the shocked zebrafish motility mutant
    Julia Dallman; Fiscal Year: 2007
    ..including sofa potato (acetylcholine receptor delta subunit), relaxed (dihydropyridine receptor), and twitch once (rapsyn)...
  15. Rapsyn regulation of ACh receptor function
    MARK VERDECIA; Fiscal Year: 2006
    My main objective is to determine how rapsyn directs the increase in AChR density at the neuromuscular junction (NMJ). Severe effects on development and health result when the NMJ becomes impaired...
  16. The dynamics of rapsyn in vitro and in vivo
    Emile Bruneau; Fiscal Year: 2007
    ..study is to determine the dynamics and intracellular trafficking of the acetylcholine receptor associated protein, rapsyn. Rapsyn is the only intracellular protein known to bind directly to acetylcholine receptors, and is functionally ..
  17. Synapse Development in Zebrafish
    Paul Brehm; Fiscal Year: 2006
    ..experiments will use the unique advantages offered by zebrafish genetics and development to identify the roles of rapsyn, acetylcholine receptor, MuSK and beta-dystroglycan in synapse formation in vivo...
  18. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1990
    ..In dermatomyositis the hypothesis will be tested that the pathologic features of the disease are mediated by a circulating autoantibody...
  19. In vivo studies of synapse formation in zebrafish
    KIMBERLY EPLEY; Fiscal Year: 2007
    ..Nicotinic acetylcholine receptors (AChR) and rapsyn will be the focus of this proposal...
  20. Congenital Myasthenic Syndromes: Pathogenic Mechanisms
    RICARDO ANIBAL MASELLI; Fiscal Year: 2010
    ..last decade the genes encoding six other molecular targets, including the enzyme choline acetyltransferase (CHAT), rapsyn (RAPSN), the voltage-gated muscle sodium channel (SCN4A), the muscle-specific kinase (MUSK), Dok-7 (DOK7) and the ..