rapsyn

Summary

Gene Symbol: rapsyn
Description: receptor associated protein of the synapse
Alias: CMS11, CMS4C, FADS, 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

Research Grants

  1. RICARDO ANIBAL MASELLI; Fiscal Year: 2014
  2. Maturation and Maintenance of the Postsynaptic Apparatus
    Joshua R Sanes; Fiscal Year: 2012
  3. SIGNALING BY MUSK, A COMPONENT OF THE AGRIN RECEPTOR
    STEVEN BURDEN; Fiscal Year: 2012
  4. REGULATION OF ACETYLCHOLINE RECEPTORS ON MUSCLE
    Paul Brehm; Fiscal Year: 2004
  5. Analysis of the shocked zebrafish motility mutant
    Julia Dallman; Fiscal Year: 2009
  6. Acetylcholine Receptor-Mediated Competition for Synaptic Input
    Michael W Linhoff; Fiscal Year: 2011
  7. STEVEN BURDEN; Fiscal Year: 2015
  8. Development of Cholinergic Synapses in the Inner Ear
    DWAYNE SIMMONS; Fiscal Year: 2009
  9. REGULATION OF ACETYLCHOLINESTERASE SYNTHESIS & ASSEMBLY
    RICHARD ROTUNDO; Fiscal Year: 2009
  10. Structure-Function Studies of the Receptor Tyrosine Kinase MuSK
    STEVAN HUBBARD; Fiscal Year: 2009

Scientific Experts

Detail Information

Publications161 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. 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...
  12. 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 ..
  13. 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 ..
  14. 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...
  15. 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...
  16. 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...
  17. 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 ..
  18. 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
    ....
  19. 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...
  20. 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...
  21. 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 ..
  22. 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...
  23. 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...
  24. 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 ..
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. ncbi Expression of RAPsyn (43K protein) and nicotinic acetylcholine receptor genes is not coordinately regulated in mouse muscle
    D E Frail
    Department of Pharmacology, Washington University School of Medicine, St Louis, Missouri 63110
    Neuron 2:1077-86. 1989
    b>RAPsyn (also known as 43K protein), a mouse muscle protein localized to the synaptic membrane, is thought to be involved in the localization of nicotinic acetylcholine receptors at the neuromuscular junction...
  30. ncbi Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice
    M Gautam
    Department of Molecular Biology, Washington University Medical School, St Louis, Missouri 63110, USA
    Nature 377:232-6. 1995
    ..A key component of this complex is rapsyn, a peripheral membrane protein of relative molecular mass 43K (refs 4, 5), which is precisely colocalized with ..
  31. ncbi Characterization and mapping of the Rapsn gene encoding the 43-kDa acetylcholine receptor-associated protein
    M Gautam
    Department of Molecular Biology and Pharmacology, Washington University Medical School, St Louis, Missouri 63110
    Genomics 24:366-9. 1994
    ..Finally, the 43K locus, designated Rapsn, has been mapped to the central region of mouse chromosome 2...
  32. 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...
  33. ncbi GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton
    H Wang
    Molecular Biology Institute, University of California, Los Angeles 90095, USA
    Nature 397:69-72. 1999
    ..of ligand-gated ion-channel receptors associate in postsynaptic-membrane clusters by binding to the proteins rapsyn or gephyrin...
  34. 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...
  35. 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.
  36. pmc Inhibition of synapse assembly in mammalian muscle in vivo by RNA interference
    Xian Chu Kong
    Biozentrum, University of Basel, Basel, Switzerland
    EMBO Rep 5:183-8. 2004
    ..of the vertebrate neuromuscular junction (NMJ) requires the receptor tyrosine kinase MuSK and the adaptor molecule rapsyn. Here, we report that the phenotypes of mice deficient in these two molecules can be reproduced by RNA ..
  37. ncbi The postsynaptic submembrane machinery at the neuromuscular junction: requirement for rapsyn and the utrophin/dystrophin-associated complex
    Glen B Banks
    Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195 7290, USA
    J Neurocytol 32:709-26. 2003
    ..terminal to activate its muscle-specific kinase (MuSK) receptor that leads to a second messenger cascade requiring rapsyn to ultimately bring about AChR clustering in the muscle membrane...
  38. ncbi Acetylcholine receptors direct rapsyn clusters to the neuromuscular synapse in zebrafish
    Fumihito Ono
    The Whitney Laboratory, University of Florida, St Augustine, Florida 32080, USA
    J Neurosci 24:5475-81. 2004
    Clustering of nicotinic muscle acetylcholine receptors (AChRs) requires association with intracellular rapsyn, a protein with an intrinsic ability to self-cluster...
  39. ncbi Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects
    Eleni N Levedakou
    Jack Miller Center for Peripheral Neuropathy, Department of Neurology, MC 2030, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    Mol Cell Neurosci 28:757-69. 2005
    ..receptor clustering with reduced immunostaining for beta-dystroglycan, laminin, agrin, MuSK, and to a lesser extent acetylcholinesterase and rapsyn. These data implicate LARGE in nerve, muscle, and neuromuscular junction function.
  40. 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...
  41. 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...
  42. ncbi CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn
    Juliane S Muller
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Brain 129:2784-93. 2006
    ..Subsequently, we conducted functional studies of AChR mutants co-transfected with rapsyn in HEK 293 cells. Heterozygously to a 2...
  43. ncbi MuSK signaling at the neuromuscular junction
    Qiang Wang
    Program of Developmental Neurobiology, Institute of Molecular Medicine and Genetics, Department of Neurology, Medical College of Georgia, Augusta, GA, USA
    J Mol Neurosci 30:223-6. 2006
    ..Three molecules are essential for NMJ formation: agrin, MuSK, and rapsyn. MuSK appears to be involved in every aspect of NMJ development and maintenance...
  44. ncbi Developmental increase in the amount of rapsyn per acetylcholine receptor promotes postsynaptic receptor packing and stability
    Othon L Gervasio
    School of Medical Sciences Physiology, Bosch Institute, University of Sydney, Sydney, Australia
    Dev Biol 305:262-75. 2007
    ..was a concurrent two-fold increase in immunofluorescent labeling for the AChR-associated cytoplasmic protein, rapsyn. When 1-month old muscle was denervated, postsynaptic rapsyn immunostaining was reduced, as was the efficiency of ..
  45. ncbi Rapsyn interaction with calpain stabilizes AChR clusters at the neuromuscular junction
    Fei Chen
    Institute of Neuroscience and Key Laboratory of Neurobiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
    Neuron 55:247-60. 2007
    ..Interestingly, the AChR-associated protein rapsyn interacted with calpain in an agrin-dependent manner, and this interaction inhibited the protease activity of ..
  46. pmc Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
    Anne Michalk
    Institute for Medical Genetics, Charite University Medicine, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Hum Genet 82:464-76. 2008
    Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors...
  47. 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...
  48. 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...
  49. ncbi [Basic and clinical importance of nicotinic acetylcholine receptors]
    Takahiro Suzuki
    Department of Anesthesiology, Surugadai Nihon University Hospital, Tokyo 101 8309
    Masui 57:813-8. 2008
    ..Agrin also regulates the distribution of other synaptic proteins, including rapsyn, ErbB receptor...
  50. 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)...
  51. 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...
  52. 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...
  53. pmc Postsynaptic development of the neuromuscular junction in mice lacking the gamma-subunit of muscle nicotinic acetylcholine receptor
    Yun Liu
    Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX 75390 9111, USA
    J Mol Neurosci 40:21-6. 2010
    ..These results also suggest that the gamma-subunit maybe involved in interacting with rapsyn, a cytoplasmic protein required for AChR clustering.
  54. pmc Partition profile of the nicotinic acetylcholine receptor in lipid domains upon reconstitution
    Vicente Bermúdez
    Instituto de Investigaciones Bioquimicas de Bahia Blanca, Consejo Nacional de Investigaciones Cientificas y Tecnicas, and UNESCO Chair of Biophysics and Molecular Neurobiology, Universidad Nacional del Sur, Buenos Aires, Argentina
    J Lipid Res 51:2629-41. 2010
    ..The influence of rapsyn, a peripheral protein involved in AChR aggregation, was studied...
  55. pmc Wnt4 participates in the formation of vertebrate neuromuscular junction
    Laure Strochlic
    Universite Paris Descartes, Sorbonne Paris Cité, France
    PLoS ONE 7:e29976. 2012
    ..muscle structure and the localization of several synaptic proteins including acetylcholinesterase, MuSK and rapsyn are not perturbed in the Wnt4 mutant. Finally, we identify MuSK as a Wnt4 receptor...
  56. pmc Acetylcholine receptors enable the transport of rapsyn from the Golgi complex to the plasma membrane
    Jee Young Park
    Section on Model Synaptic Systems, Laboratory of Molecular Physiology, NIAAA, NIH, Bethesda, MD 20892 9411, USA
    J Neurosci 32:7356-63. 2012
    ..receptors (AChRs) at nerve terminals is critical for signal transmission at the neuromuscular junction, and rapsyn is essential for this process...
  57. pmc Mechanosensitivity of nicotinic receptors
    N Clara Pan
    Division of Life Science, State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
    Pflugers Arch 464:193-203. 2012
    ..b>Rapsyn, which binds to AChRs and mediates their cytoskeletal interaction in muscle, suppressed AChR mechanosensitivity ..
  58. pmc Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair
    Piero Pavone
    Unit of Pediatrics and Pediatric Emergency, University Hospital OVE Policlinico, Catania, Italy
    BMJ Case Rep 2013:. 2013
    ..Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene. The present report highlights the clinical variability of the CMS...
  59. pmc LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner
    Bisei Ohkawara
    Division of Neurogenetics, Center for Neurological Diseases and Cancer and
    Hum Mol Genet 23:1856-68. 2014
    ..Activated MuSK in concert with Dok-7 stimulates rapsyn to concentrate and anchor AChR on the postsynaptic membrane and interacts with other proteins implicated in the ..
  60. pmc Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two
    Dustin Herrmann
    From the Institut für Biochemie, Friedrich Alexander Universitat Erlangen Nurnberg, Fahrstrasse 17, D 91054 Erlangen, Germany
    J Biol Chem 290:22370-84. 2015
    ..the nicotinic acetylcholine receptors with weak interaction, (b) dishevelled (Dsh), and (c) another four proteins, Rapsyn, Rac1, 14-3-3γ, and Dok-7, with strong interaction...
  61. doi IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome
    Akihide Shibata
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Hum Genet 61:633-40. 2016
    ..We created a web service program, IntSplice (http://www.med.nagoya-u.ac.jp/neurogenetics/IntSplice) to predict splicing-affecting SNVs at intronic positions from -50 to -3. ..
  62. doi Axonal degeneration, distal collateral branching and neuromuscular junction architecture alterations occur prior to symptom onset in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis
    Jayden A Clark
    Menzies Institute for Medical Research, University of Tasmania, Hobart Tasmania 7000, Australia
    J Chem Neuroanat 76:35-47. 2016
    ..analysis demonstrated that the colocalisation of the scaffolding proteins nestin, LRP-4, dystrophin and rapsyn were diminished before post-synaptic receptors in the gastrocnemius, and the degree of loss differed between ..
  63. pmc Dynein disruption perturbs post-synaptic components and contributes to impaired MuSK clustering at the NMJ: implication in ALS
    Valérie Vilmont
    Myology Research Center, UM76 INSERM U974 CNRS FRE 3617 Sorbonne Universités, UPMC Universite Paris 06, Paris, France
    Sci Rep 6:27804. 2016
    ..the expression and the clustering of acetylcholine receptors (AChRs), muscle specific tyrosine kinase (MuSK) and Rapsyn. We also show that myofibers with dynein impairment or from an amyotrophic lateral sclerosis (ALS) model (SOD1(..
  64. pmc DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA
    Qiuqiong Tang
    Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany
    Oncotarget 7:64191-64202. 2016
    ..Our study suggests that hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with BC and might serve as blood-based marker supplements for BC if these could be verified in prospective studies...
  65. doi Laminin is instructive and calmodulin dependent kinase II is non-permissive for the formation of complex aggregates of acetylcholine receptors on myotubes in culture
    Raphaël Vézina-Audette
    Centre for Research in Neuroscience, and Dept of Neurology, McGill University Health Centre, 1650, Cedar Ave, Montreal, Quebec, H3G 1A4, Canada
    Matrix Biol . 2016
    ..The permissive period requires ongoing protein synthesis. The latter may reflect a requirement for rapsyn, which turns over rapidly, and is necessary for aggregation...
  66. pmc Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
    Sharon Aharoni
    Institute of Child Neurology, Schneider Children s Medical Center of Israel, Petach Tikva, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Electronic address
    Neuromuscul Disord . 2016
    ..Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected...
  67. 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...
  68. 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...
  69. 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...
  70. 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...
  71. 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
  72. 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 ..
  73. 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...
  74. pmc The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
    J S Müller
    J Med Genet 41:e104. 2004
  75. 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...
  76. 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 ..
  77. 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 ..
  78. ncbi Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations
    R A Maselli
    Clin Genet 72:63-5. 2007
  79. 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...
  80. 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...
  81. 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 ..
  82. 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...
  83. 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 ..
  84. 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...
  85. 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...
  86. 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...
  87. 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)...
  88. 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...
  89. 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...
  90. 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...
  91. 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...
  92. 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...
  93. 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)...
  94. 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 ..
  95. 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...
  96. 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...
  97. 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...
  98. 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 ..
  99. 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...

Research Grants18

  1. RICARDO ANIBAL MASELLI; Fiscal Year: 2014
    ..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 ..
  2. Maturation and Maintenance of the Postsynaptic Apparatus
    Joshua R Sanes; Fiscal Year: 2012
    ..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. SIGNALING BY MUSK, A COMPONENT OF THE AGRIN RECEPTOR
    STEVEN BURDEN; Fiscal Year: 2012
    ..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 ..
  4. 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...
  5. Analysis of the shocked zebrafish motility mutant
    Julia Dallman; Fiscal Year: 2009
    ..including sofa potato (acetylcholine receptor delta subunit), relaxed (dihydropyridine receptor), and twitch once (rapsyn)...
  6. Acetylcholine Receptor-Mediated Competition for Synaptic Input
    Michael W Linhoff; Fiscal Year: 2011
    ..motility mutants have served as models for Brody's disease and episodic apnea as well as revealing a role for rapsyn in conferring congenital forms of human myasthenic syndrome...
  7. STEVEN BURDEN; Fiscal Year: 2015
    ..The proposed experiments will identify proteins that associate with Rapsyn, an AChR-associated protein that is essential to cluster AChRs, and analyze how these newly identified synaptic ..
  8. 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...
  9. 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 ..
  10. 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...
  11. 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 ..
  12. 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.
  13. 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 ..
  14. 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...
  15. Rapsyn regulation of ACh receptor function
    MARK VERDECIA; Fiscal Year: 2008
    unreadable] DESCRIPTION (provided by applicant): My main objective is to determine how rapsyn directs the increase in AChR density at the neuromuscular junction (NMJ)...
  16. HOMOMERIC NICOTINIC ACETYLCHOLINE RECEPTORS
    RONALD LUKAS; Fiscal Year: 2002
    ..Findings in the project are relevant to our understanding of the important roles played by nAChR in nervous system function and disease and in nicotine dependence. ..
  17. Molecular Bases for Effects of Nicotine
    RONALD LUKAS; Fiscal Year: 2007
    ..Insights will also be provided into the kinds of drugs that block or mimic nicotine's actions. Collectively, this knowledge will benefit development of strategies to treat mood, cognitive, and other nervous system disorders. ..
  18. Neuregulin-2 and the formation of neuromuscular synapses
    Mendell Rimer; Fiscal Year: 2006
    ..Results from the proposed research are expected to yield new insights into the molecular mechanisms that control neurotransmitter receptor density at the NMJ, which may bear on such control at synapses in the brain. ..