neuromuscular junction

Summary

Summary: The synapse between a neuron and a muscle.

Top Publications

  1. ncbi Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP
    G Feng
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neuron 28:41-51. 2000
  2. ncbi Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila
    Dhananjay A Wagh
    Lehrstuhl für Genetik und Neurobiologie, Theodor Boveri Institut für Biowissenschaften, Am Hubland, D 97074 Wurzburg, Germany
    Neuron 49:833-44. 2006
  3. ncbi The BMP homolog Gbb provides a retrograde signal that regulates synaptic growth at the Drosophila neuromuscular junction
    Brian D McCabe
    Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA
    Neuron 39:241-54. 2003
  4. ncbi Improved stability of Drosophila larval neuromuscular preparations in haemolymph-like physiological solutions
    B A Stewart
    Department of Physiology, University of Toronto, Ontario, Canada
    J Comp Physiol A 175:179-91. 1994
  5. pmc Maturation of active zone assembly by Drosophila Bruchpilot
    Wernher Fouquet
    Institute for Biology Genetics, Free University Berlin, Berlin, Germany
    J Cell Biol 186:129-45. 2009
  6. pmc Distinct roles for two synaptotagmin isoforms in synchronous and asynchronous transmitter release at zebrafish neuromuscular junction
    Hua Wen
    Vollum Institute, Oregon Health and Sciences University, Portland, OR 97239, USA
    Proc Natl Acad Sci U S A 107:13906-11. 2010
  7. pmc Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
    Lingling Kong
    Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
    J Neurosci 29:842-51. 2009
  8. ncbi Synaptic development: insights from Drosophila
    Catherine A Collins
    Department of Molecular Biology and Pharmacology, Campus Box 8103, 660 South Euclid, Washington University School of Medicine, St Louis, MO 63110, USA
    Curr Opin Neurobiol 17:35-42. 2007
  9. ncbi Neuromuscular synapses can form in vivo by incorporation of initially aneural postsynaptic specializations
    Heather Flanagan-Steet
    Department of Anatomy and Neurobiology, Washington University Medical School, St Louis, MO 63110, USA
    Development 132:4471-81. 2005
  10. ncbi Retrograde BMP signaling controls synaptic growth at the NMJ by regulating trio expression in motor neurons
    Robin W Ball
    Department of Physiology, McGill University, Montreal, QC H3G 1Y6, Canada
    Neuron 66:536-49. 2010

Detail Information

Publications385 found, 100 shown here

  1. ncbi Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP
    G Feng
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Neuron 28:41-51. 2000
    ..In some lines, intense labeling of small neuronal subsets provided a Golgi-like vital stain. In double transgenic mice expressing two different XFPs, it was possible to differentially label 3 neuronal subsets in a single animal...
  2. ncbi Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila
    Dhananjay A Wagh
    Lehrstuhl für Genetik und Neurobiologie, Theodor Boveri Institut für Biowissenschaften, Am Hubland, D 97074 Wurzburg, Germany
    Neuron 49:833-44. 2006
    ..We propose that BRP is critical for intact AZ structure and normal-evoked neurotransmitter release at chemical synapses of Drosophila...
  3. ncbi The BMP homolog Gbb provides a retrograde signal that regulates synaptic growth at the Drosophila neuromuscular junction
    Brian D McCabe
    Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA
    Neuron 39:241-54. 2003
    ..the BMP ortholog Gbb can signal by a retrograde mechanism to regulate synapse growth of the Drosophila neuromuscular junction (NMJ)...
  4. ncbi Improved stability of Drosophila larval neuromuscular preparations in haemolymph-like physiological solutions
    B A Stewart
    Department of Physiology, University of Toronto, Ontario, Canada
    J Comp Physiol A 175:179-91. 1994
    ..Thus, haemolymph-like solutions allow for prolonged, stable recording of synaptic transmission...
  5. pmc Maturation of active zone assembly by Drosophila Bruchpilot
    Wernher Fouquet
    Institute for Biology Genetics, Free University Berlin, Berlin, Germany
    J Cell Biol 186:129-45. 2009
    ..BRP seems responsible for effectively clustering Ca(2+) channels beneath the T-bar density late in a protracted AZ formation process, potentially through a direct molecular interaction with intracellular Ca(2+) channel domains...
  6. pmc Distinct roles for two synaptotagmin isoforms in synchronous and asynchronous transmitter release at zebrafish neuromuscular junction
    Hua Wen
    Vollum Institute, Oregon Health and Sciences University, Portland, OR 97239, USA
    Proc Natl Acad Sci U S A 107:13906-11. 2010
    ..The zebrafish neuromuscular junction is unique in having a very small quantal content and a high release probability under conditions of either ..
  7. pmc Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
    Lingling Kong
    Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
    J Neurosci 29:842-51. 2009
    ..Here, we examined the function and corresponding structure of neuromuscular junction (NMJ) synapses in a mouse model of severe SMA (hSMN2/delta7SMN/mSmn-/-)...
  8. ncbi Synaptic development: insights from Drosophila
    Catherine A Collins
    Department of Molecular Biology and Pharmacology, Campus Box 8103, 660 South Euclid, Washington University School of Medicine, St Louis, MO 63110, USA
    Curr Opin Neurobiol 17:35-42. 2007
    In Drosophila, the larval neuromuscular junction is particularly tractable for studying how synapses develop and function...
  9. ncbi Neuromuscular synapses can form in vivo by incorporation of initially aneural postsynaptic specializations
    Heather Flanagan-Steet
    Department of Anatomy and Neurobiology, Washington University Medical School, St Louis, MO 63110, USA
    Development 132:4471-81. 2005
    ..Moreover, many AChR clusters on later-born fast muscle fibers formed at sites that had already been contacted by axons, suggesting heterogeneity in the signaling mechanisms leading to synapse formation by a single axon...
  10. ncbi Retrograde BMP signaling controls synaptic growth at the NMJ by regulating trio expression in motor neurons
    Robin W Ball
    Department of Physiology, McGill University, Montreal, QC H3G 1Y6, Canada
    Neuron 66:536-49. 2010
    ..We show that loss of retrograde bone morphogenic protein (BMP) signaling at the Drosophila larval neuromuscular junction (NMJ) leads to a significant reduction in levels of Rac GEF Trio and a diminution of transcription at the ..
  11. ncbi Defective neuromuscular synaptogenesis in agrin-deficient mutant mice
    M Gautam
    Department of Anatomy and Neurobiology, Washington University Medical School St Louis, Missouri 63110, USA
    Cell 85:525-35. 1996
    ....
  12. ncbi Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases
    D Frey
    Friedrich Miescher Institute, CH 4058 Basel, Switzerland
    J Neurosci 20:2534-42. 2000
    ....
  13. pmc Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    Michelle L McWhorter
    Center for Molecular Neurobiology, The Ohio State University, Columbus, OH 43210, USA
    J Cell Biol 162:919-31. 2003
    ..These results show for the first time, in vivo, that Smn functions in motor axon development and suggest that these early developmental defects may lead to subsequent motoneuron loss...
  14. ncbi Aging of the human neuromuscular system
    Anthony A Vandervoort
    School of Physical Therapy, University of Western Ontario, Room 1400, Elborn College, 1201 Western Road, London, Ontario N6G 1H1, Canada
    Muscle Nerve 25:17-25. 2002
    ....
  15. ncbi Distinct target-derived signals organize formation, maturation, and maintenance of motor nerve terminals
    Michael A Fox
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Cell 129:179-93. 2007
    ..Thus, multiple target-derived signals permit discrete control of the formation, maturation, and maintenance of presynaptic specializations...
  16. pmc The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases
    Vafa Bayat
    Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA
    Curr Opin Neurobiol 21:182-8. 2011
    The Drosophila neuromuscular junction (NMJ) has recently provided new insights into the roles of various proteins in neurodegenerative diseases including Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA), Multiple ..
  17. ncbi Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy
    R M Grady
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Cell 90:729-38. 1997
    ..Thus, utrophin attenuates the effects of dystrophin deficiency, and the double mutant may provide a useful model for studies of pathogenesis and therapy...
  18. pmc A postsynaptic spectrin scaffold defines active zone size, spacing, and efficacy at the Drosophila neuromuscular junction
    Jan Pielage
    Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94143, USA
    J Cell Biol 175:491-503. 2006
    ..Although Ankyrin is not required for the localization of the Spectrin skeleton to the neuromuscular junction, it contributes to Spectrin-mediated synapse development...
  19. pmc Increased superoxide in vivo accelerates age-associated muscle atrophy through mitochondrial dysfunction and neuromuscular junction degeneration
    Youngmok C Jang
    Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245, USA
    FASEB J 24:1376-90. 2010
    ....
  20. ncbi wishful thinking encodes a BMP type II receptor that regulates synaptic growth in Drosophila
    Hermann Aberle
    Howard Hughes Medical Institute, Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA
    Neuron 33:545-58. 2002
    We conducted a large-scale screen for Drosophila mutants that have structural abnormalities of the larval neuromuscular junction (NMJ). We recovered mutations in wishful thinking (wit), a gene that positively regulates synaptic growth...
  21. ncbi Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy
    A E Deconinck
    Department of Biochemistry, University of Oxford, United Kingdom
    Cell 90:717-27. 1997
    ..Detailed study of these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies...
  22. pmc UNC-13 is required for synaptic vesicle fusion in C. elegans
    J E Richmond
    Department of Biology, University of Utah, 257 South 1400 East, Salt Lake City, Utah 84112-0840, USA
    Nat Neurosci 2:959-64. 1999
    ..nervous system architecture, and the densities of synapses and postsynaptic receptors were normal at the neuromuscular junction. However, the number of synaptic vesicles at neuromuscular junctions was two- to threefold greater in unc-..
  23. ncbi A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43
    Nicholas A Lanson
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA
    Hum Mol Genet 20:2510-23. 2011
    ....
  24. pmc Trans-synaptic transmission of vesicular Wnt signals through Evi/Wntless
    Ceren Korkut
    Department of Neurobiology, University of Massachusetts Medical School, Worcester, MA 01655, USA
    Cell 139:393-404. 2009
    ..We show that at the Drosophila larval neuromuscular junction (NMJ), presynaptic vesicular release of Evi is required for the secretion of the Wnt, Wingless (Wg)...
  25. ncbi Overexpression of the neural growth-associated protein GAP-43 induces nerve sprouting in the adult nervous system of transgenic mice
    L Aigner
    Friedrich Miescher Institute, Basel, Switzerland
    Cell 83:269-78. 1995
    ..Such mice showed striking spontaneous nerve sprouting at the neuromuscular junction and in the terminal field of hippocampal mossy fibers...
  26. pmc Lrp4 is a receptor for Agrin and forms a complex with MuSK
    Natalie Kim
    Molecular Neurobiology Program, Skirball Institute of Biomolecular Medicine, Helen and Martin Kimmel Center for Biology and Medicine, NYU Medical School, New York, NY 10016, USA
    Cell 135:334-42. 2008
    ..Here, we report that Lrp4, a member of the LDLR family, is a receptor for Agrin, forms a complex with MuSK, and mediates MuSK activation by Agrin...
  27. pmc LRP4 serves as a coreceptor of agrin
    Bin Zhang
    Program of Developmental Neurobiology, Institute of Molecular Medicine and Genetics, Department of Neurology, Medical College of Georgia, Augusta, GA 30912, USA
    Neuron 60:285-97. 2008
    b>Neuromuscular junction (NMJ) formation requires agrin, a factor released from motoneurons, and MuSK, a transmembrane tyrosine kinase that is activated by agrin. However, how signal is transduced from agrin to MuSK remains unclear...
  28. ncbi The HSPGs Syndecan and Dallylike bind the receptor phosphatase LAR and exert distinct effects on synaptic development
    Karl G Johnson
    Department of Cell Biology and Program in Neuroscience, Harvard Medical School, 240 Longwood Avenue, Boston, Massachusetts 02115, USA
    Neuron 49:517-31. 2006
    ....
  29. pmc Attenuation of age-related changes in mouse neuromuscular synapses by caloric restriction and exercise
    Gregorio Valdez
    Department of Molecular and Cellular Biology and Center for Brain Science, Harvard University, Cambridge, MA 02138, USA
    Proc Natl Acad Sci U S A 107:14863-8. 2010
    ..As a starting point in testing these ideas, we studied the skeletal neuromuscular junction (NMJ), a large, accessible peripheral synapse...
  30. ncbi Physiological and methodological considerations for the use of neuromuscular electrical stimulation
    Nicola A Maffiuletti
    Neuromuscular Research Laboratory, Schulthess Clinic, Zurich, Switzerland
    Eur J Appl Physiol 110:223-34. 2010
    ..The second section of the article focuses on the most common NMES parameters, which entail the characteristics of both the electrical current (the input) and the evoked contraction (the output)...
  31. pmc Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction
    Neha Singhal
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio 43205, USA
    Dev Neurobiol 71:982-1005. 2011
    The vertebrate neuromuscular junction (NMJ) remains the best-studied model for understanding the mechanisms involved in synaptogenesis, due to its relatively large size, its simplicity of patterning, and its unparalleled experimental ..
  32. ncbi LIM Kinase1 controls synaptic stability downstream of the type II BMP receptor
    Benjamin A Eaton
    Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, California 94143, USA
    Neuron 47:695-708. 2005
    ..DLIMK1 localizes near synaptic microtubules and functions independently of ADF/cofilin, highlighting a novel requirement for DLIMK1 during synapse stabilization rather than actin-dependent axon outgrowth...
  33. ncbi A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
    Melissa Bowerman
    Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada K1H 8L6
    Neuromuscul Disord 22:263-76. 2012
    ..Importantly, these mice are phenotype-free until P10 with a median life expectancy of 28 days. They show neuromuscular junction (NMJ) pathology with an inter-muscular differential vulnerability and an association between pre- and post-..
  34. ncbi The expression pattern of the Drosophila vesicular glutamate transporter: a marker protein for motoneurons and glutamatergic centers in the brain
    Andrea Mahr
    Max Planck Institut fur Entwicklungsbiologie, Abt III Genetik, Spemannstr 35, 72076 Tubingen, Germany
    Gene Expr Patterns 6:299-309. 2006
    ..Given that vesicular glutamate transporters are essential for the uptake of the neurotransmitter glutamate into synaptic vesicles these tools provide a means to test gene function in these functionally important neurons...
  35. ncbi cAMP acts on exchange protein activated by cAMP/cAMP-regulated guanine nucleotide exchange protein to regulate transmitter release at the crayfish neuromuscular junction
    Ning Zhong
    Department of Molecular and Cell Biology and Helen Wills Neuroscience Institute, University of California, Berkeley, California 9472, USA
    J Neurosci 25:208-14. 2005
    ..Epac also mediates the enhancement of tagged synapses. Thus, the cAMP-dependent enhancement of transmission is mediated by two separate pathways, neither of which involves protein kinase A...
  36. pmc Clathrin dependence of synaptic-vesicle formation at the Drosophila neuromuscular junction
    HEATHER HEERSSEN
    Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, California 94158, USA
    Curr Biol 18:401-9. 2008
    ..Remarkably, it remains unknown whether clathrin is strictly necessary for the stimulus-dependent re-formation of a synaptic vesicle and, conversely, whether clathrin-independent vesicle endocytosis exists at the neuronal synapse...
  37. pmc ITSN-1 controls vesicle recycling at the neuromuscular junction and functions in parallel with DAB-1
    Wei Wang
    Program in Developmental and Stem Cell Biology, The Hospital for Sick Children 101 College Street, TMDT East Tower, Toronto, Ontario M5G 1L7, Canada
    Traffic 9:742-54. 2008
    ..These results show for the first time that intersectin and Eps15 proteins function in the same genetic pathway, and appear to function synergistically with the clathrin-coat-associated sorting protein, Disabled, for viability...
  38. pmc Rapid activity-dependent modifications in synaptic structure and function require bidirectional Wnt signaling
    Bulent Ataman
    Department of Neurobiology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Neuron 57:705-18. 2008
    ..We propose that activation of the postsynaptic Wg pathway is required for the assembly of the postsynaptic apparatus, while activation of the presynaptic Wg pathway regulates cytoskeletal dynamics...
  39. ncbi The Drosophila beta-amyloid precursor protein homolog promotes synapse differentiation at the neuromuscular junction
    L Torroja
    Department of Biology, Brandeis University, Waltham, Massachusetts 02454, USA
    J Neurosci 19:7793-803. 1999
    ..Wild-type and mutant forms of APPL were expressed in motoneurons to determine the effect of APPL at the neuromuscular junction (NMJ)...
  40. ncbi Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy
    L M Murray
    Centre for Integrative Physiology, University of Edinburgh Medical School, Edinburgh, EH8 9XD, UK
    Neuropathol Appl Neurobiol 36:133-56. 2010
    ..We conclude that future experiments developing therapeutic approaches specifically targeting neuromuscular synaptic vulnerability are likely to be required to prevent or delay disease onset and progression in human MND patients...
  41. ncbi Complete dissociation of motor neuron death from motor dysfunction by Bax deletion in a mouse model of ALS
    Thomas W Gould
    Department of Neurobiology and Anatomy and Program in Neuroscience, Wake Forest University, Winston Salem, North Carolina 27157 1010, USA
    J Neurosci 26:8774-86. 2006
    ..Interestingly, MNs exhibited mitochondrial abnormalities at the innervated neuromuscular junction at the onset of neuromuscular denervation...
  42. ncbi Regulation of synapse structure and function by the Drosophila tumor suppressor gene dlg
    V Budnik
    Department of Biology, University of Massachusetts, Amherst 01003, USA
    Neuron 17:627-40. 1996
    ..We propose that DLG is an integral part of a mechanism by which changes in both neurotransmitter release and synapse structure are accomplished during development and plasticity...
  43. pmc A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
    Tennore Ramesh
    Center for Molecular Neurobiology and Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA
    Dis Model Mech 3:652-62. 2010
    ..Focusing on two G93R lines, we found that they displayed the major phenotypes of ALS. Changes at the neuromuscular junction were observed at larval and adult stages...
  44. ncbi Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner
    Giuseppa Pennetta
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 35:291-306. 2002
    ..We propose that a DVAP-33A-mediated interaction between microtubules and presynaptic membrane plays a pivotal role during bouton budding...
  45. pmc PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy
    Christoph Handschin
    Dana Farber Cancer Institute and Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 21:770-83. 2007
    ..protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and enhances transcription of a broad neuromuscular junction gene program...
  46. ncbi Circadian changes in Drosophila motor terminals
    Kerstin I Mehnert
    Zoology Department, Stockholm University, Stockholm, Sweden
    Dev Neurobiol 67:415-21. 2007
    ..These unexpected results reveal further circadian as well as nonclock related pleiotropic effects for these classic behavioral mutants...
  47. ncbi Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle
    K Matsumura
    Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242
    Nature 360:588-91. 1992
    ..complex of sarcolemmal proteins and that DRP and the dystrophin/DRP-associated proteins colocalize to the neuromuscular junction in Duchenne muscular dystrophy and mdx muscle...
  48. ncbi Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophy
    Elisabet Dachs
    Unitat de Neurobiologia Cellular, Departament de Medicina Experimental, Universitat de Lleida and Institut de Recerca Biomèdica de Lleida, Catalonia, Spain
    J Neuropathol Exp Neurol 70:444-61. 2011
    ..These findings raise questions regarding the primary contribution of a muscle cell defect to the SMA phenotype...
  49. pmc A conditional tissue-specific transgene expression system using inducible GAL4
    T Osterwalder
    Department of Molecular, Cellular, and Developmental Biology, and Pharmacology Department, Yale University, P O Box 208103, New Haven, CT 06511, USA
    Proc Natl Acad Sci U S A 98:12596-601. 2001
    ..here the applicability of GeneSwitch for conditional tissue-specific expression in Drosophila, and we provide tools to control pre- and postsynaptic expression of transgenes at the larval neuromuscular junction during postembryonic life.
  50. pmc Shared resistance to aging and ALS in neuromuscular junctions of specific muscles
    Gregorio Valdez
    Department of Molecular and Cellular Biology and Center for Brain Science, Harvard University, Cambridge, Massachusetts, United States of America
    PLoS ONE 7:e34640. 2012
    ..Together, these results reveal novel structural, regional and molecular parallels between aging and ALS...
  51. pmc Wild-type and A315T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS
    Patricia S Estes
    Department of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85721, USA
    Hum Mol Genet 20:2308-21. 2011
    ..We found that when expressed at comparable levels, wild-type TDP-43 exerts more severe effects on neuromuscular junction architecture, viability and motor neuron loss compared with the A315T allele...
  52. pmc Modeling spinal muscular atrophy in Drosophila
    Howard Chia Hao Chang
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 3:e3209. 2008
    ..Here we show that a normal neuromuscular junction (NMJ) structure depends on SMN expression and that SMN concentrates in the post-synaptic NMJ regions...
  53. pmc Graded synaptic transmission at the Caenorhabditis elegans neuromuscular junction
    Qiang Liu
    Department of Biology and Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT 84112 0840, USA
    Proc Natl Acad Sci U S A 106:10823-8. 2009
    ..Graded release precisely transmits stimulation intensity, even hyperpolarizing inputs. Synaptic plasticity alters the balance of excitatory and inhibitory inputs into the muscle in a use-dependent manner...
  54. pmc Striking denervation of neuromuscular junctions without lumbar motoneuron loss in geriatric mouse muscle
    Ruth Jinfen Chai
    School of Anatomy and Human Biology, The University of Western Australia, Perth, Western Australia, Australia
    PLoS ONE 6:e28090. 2011
    ..The challenge is to identify which components of the neuromuscular system are primarily responsible for the marked changes within the NMJ and muscle, in order to selectively target future interventions to reduce sarcopenia...
  55. ncbi The Drosophila BMP type II receptor Wishful Thinking regulates neuromuscular synapse morphology and function
    Guillermo Marques
    The Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Neuron 33:529-43. 2002
    ..These results reveal a novel role for BMP signaling in regulating Drosophila neuromuscular junction synapse assembly and activity and may indicate that similar pathways could govern vertebrate synapse ..
  56. ncbi acr-16 encodes an essential subunit of the levamisole-resistant nicotinic receptor at the Caenorhabditis elegans neuromuscular junction
    Denis Touroutine
    Department of Biology, University of Illinois, Chicago, Illinois 60607, USA
    J Biol Chem 280:27013-21. 2005
    The Caenorhabditis elegans neuromuscular junction (NMJ) contains three pharmacologically distinct ionotropic receptors: gamma-aminobutyric acid receptors, levamisole-sensitive nicotinic receptors, and levamisole-insensitive nicotinic ..
  57. ncbi 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
    The stabilisation of acetylcholine receptors (AChRs) at the neuromuscular junction depends on muscle activity and the cooperative action of myosin Va and protein kinase A (PKA) type I...
  58. pmc Presynaptic alpha2delta-3 is required for synaptic morphogenesis independent of its Ca2+-channel functions
    Peri T Kurshan
    F M Kirby Neurobiology Center, Children s Hospital Boston, Boston, Massachusetts, USA
    Nat Neurosci 12:1415-23. 2009
    ..Our results indicate that alpha(2)delta proteins have functions that are independent of their roles in the biophysics and localization of Ca(2+) channels and that synaptic architecture depends on these functions...
  59. ncbi Macromolecular connections of active zone material to docked synaptic vesicles and presynaptic membrane at neuromuscular junctions of mouse
    Sharuna Nagwaney
    Department of Neurobiology, Stanford University School of Medicine, Stanford, California 94305, USA
    J Comp Neurol 513:457-68. 2009
    ..These secondary docked vesicles had a different relationship to the membrane and AZM macromolecules than primary docked vesicles, consistent with their having a different AZM-regulated behavior...
  60. ncbi Wnt signaling positions neuromuscular connectivity by inhibiting synapse formation in C. elegans
    Matthew P Klassen
    Department of Biological Sciences and Neurosciences Program, Stanford University, Stanford, CA 94305, USA
    Cell 130:704-16. 2007
    ..These results suggest that morphogenetic signals can spatially regulate the patterning of synaptic connections by subdividing an axon into discrete domains...
  61. pmc Rab3 dynamically controls protein composition at active zones
    Ethan R Graf
    Department of Developmental Biology, Washington University School of Medicine, Saint Louis, MO 63110, USA
    Neuron 64:663-77. 2009
    ..While previous studies of Rab3 have focused on its role in the synaptic vesicle cycle, these findings demonstrate an additional and unexpected function for Rab3 in the localization of presynaptic proteins to active zones...
  62. pmc Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS
    Ruohan Xia
    Markey Cancer Center, University of Kentucky, Lexington, KY 40536, USA
    Mol Neurodegener 7:10. 2012
    ..However, it is not clear how mutations of Fus lead to motor neuron degeneration in ALS. In this study, we present a Drosophila model to examine the toxicity of Fus, its Drosophila orthologue Cabeza (Caz), and the ALS-related Fus mutants...
  63. ncbi Expression and localization of acetylcholinesterase at the neuromuscular junction
    Richard L Rotundo
    Department of Cell Biology and Anatomy and Neuroscience Program, University of Miami School of Medicine, Miami, Florida 33136, USA
    J Neurocytol 32:743-66. 2003
    ..affinity for choline esters, and for a long time provided the conceptual scaffold for studies of the neuromuscular junction (NMJ)...
  64. ncbi Nervous wreck, an SH3 adaptor protein that interacts with Wsp, regulates synaptic growth in Drosophila
    Ian P Coyle
    Laboratory of Genetics, University of Wisconsin, Madison, WI 53706, USA
    Neuron 41:521-34. 2004
    ..We propose that Nwk controls synapse morphology by regulating actin dynamics downstream of growth signals in presynaptic terminals...
  65. ncbi An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan
    Gai Ayalon
    Howard Hughes Medical Institute and Departments of Cell Biology, Biochemistry, and Neurobiology, Duke University Medical Center, Durham, NC 27710, USA
    Cell 135:1189-200. 2008
    ..The neuromuscular junction requires ankyrin-B for localization of dystrophin/utrophin and beta-DG and for maintenance of its ..
  66. ncbi The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo
    T M DeChiara
    Regeneron Pharmaceuticals, Inc, Tarrytown, New York 10591, USA
    Cell 85:501-12. 1996
    ....
  67. pmc Nuclear trafficking of Drosophila Frizzled-2 during synapse development requires the PDZ protein dGRIP
    Bulent Ataman
    Department of Neurobiology, University of Massachusetts Medical School, Worcester, MA 01605 2324, USA
    Proc Natl Acad Sci U S A 103:7841-6. 2006
    ..These results provide a mechanism by which DFz2 is transported from the postsynaptic membrane to the postsynaptic nucleus during synapse formation and implicate dGRIP as an essential molecule in the transport of this signal...
  68. ncbi The Ror receptor tyrosine kinase CAM-1 is required for ACR-16-mediated synaptic transmission at the C. elegans neuromuscular junction
    Michael M Francis
    Department of Biology, University of Utah, Salt Lake City 84112, USA
    Neuron 46:581-94. 2005
    ..The C. elegans neuromuscular junction (NMJ) shares many characteristics with neuronal synapses, including multiple classes of postsynaptic ..
  69. ncbi Presynaptic spectrin is essential for synapse stabilization
    Jan Pielage
    Department of Biochemistry and Biophysics, Program in Neuroscience, University of California, San Francisco, San Francisco, California 94143, USA
    Curr Biol 15:918-28. 2005
    ..Precise neural circuitry is established and maintained through a regulated balance of synapse stabilization and disassembly. Currently, little is known about the molecular mechanisms that specify synapse stability versus disassembly...
  70. ncbi Development of the vertebrate neuromuscular junction
    J R Sanes
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Annu Rev Neurosci 22:389-442. 1999
    ..Finally, we consider the extent to which the NMJ is a suitable model for development of neuron-neuron synapses...
  71. pmc To build a synapse: signaling pathways in neuromuscular junction assembly
    Haitao Wu
    Program of Developmental Neurobiology, Institute of Molecular Medicine and Genetics, Department of Neurology, Medical College of Georgia, Augusta, GA 30912, USA
    Development 137:1017-33. 2010
    Synapses, as fundamental units of the neural circuitry, enable complex behaviors. The neuromuscular junction (NMJ) is a synapse type that forms between motoneurons and skeletal muscle fibers and that exhibits a high degree of subcellular ..
  72. pmc LRRK2 kinase regulates synaptic morphology through distinct substrates at the presynaptic and postsynaptic compartments of the Drosophila neuromuscular junction
    Seongsoo Lee
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    J Neurosci 30:16959-69. 2010
    ..Here, we show that LRRK2 controls synaptic morphogenesis at the Drosophila neuromuscular junction. Loss of Drosophila LRRK2 results in synaptic overgrowth, whereas overexpression of Drosophila LRRK or ..
  73. ncbi CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein
    Annette Schenck
    Department of Molecular Pathology, Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Boite Postale 10142, 67404 Illkirch, Cedex, France
    Neuron 38:887-98. 2003
    ..CYFIP interacts biochemically and genetically with dFMR1 and dRac1. Finally, CYFIP acts as a dRac1 effector that antagonizes FMR1 function, providing a bridge between signal-dependent cytoskeleton remodeling and translation...
  74. pmc Syne proteins anchor muscle nuclei at the neuromuscular junction
    R Mark Grady
    Department of Anatomy and Neurobiology, Washington University, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 102:4359-64. 2005
    ..three to six are functionally specialized and stably anchored beneath the postsynaptic membrane at the neuromuscular junction (NMJ)...
  75. pmc Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
    Gyu Hwan Park
    Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA
    J Neurosci 30:12005-19. 2010
    ..This realization is tempered by the relatively mild SMA phenotype in our model mice, one explanation for which is the presence of normal SMN levels in non-neuronal tissue that serves to modulate disease severity...
  76. pmc Wingless signaling at synapses is through cleavage and nuclear import of receptor DFrizzled2
    Dennis Mathew
    Department of Neurobiology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Science 310:1344-7. 2005
    ..We conclude that, at synapses, Wingless signal transduction occurs through the nuclear localization of DFrizzled2-C for potential transcriptional regulation of synapse development...
  77. pmc Calcium channels link the muscle-derived synapse organizer laminin β2 to Bassoon and CAST/Erc2 to organize presynaptic active zones
    Jie Chen
    Department of Anatomy and Cell Biology and Kansas Intellectual and Developmental Disabilities Research Center, University of Kansas Medical School, Kansas City, Kansas 66160, USA
    J Neurosci 31:512-25. 2011
    ..The neuromuscular junction of double knock-out mice for P/Q- and N-type VDCCs displayed a normal size but had significantly reduced ..
  78. ncbi The architecture of active zone material at the frog's neuromuscular junction
    M L Harlow
    Department of Neurobiology, Stanford University School of Medicine, California 94305, USA
    Nature 409:479-84. 2001
    ..and associations of structural components of this compact organelle at a model synapse, the frog's neuromuscular junction. Our findings indicate that the active zone material helps to dock the vesicles and anchor the channels, ..
  79. pmc Presynaptic local signaling by a canonical wingless pathway regulates development of the Drosophila neuromuscular junction
    Claudia Miech
    F M Kirby Neurobiology Center, Children s Hospital, Boston, Massachusetts 02115, USA
    J Neurosci 28:10875-84. 2008
    Wnt/wingless signaling contributes to the development of neuronal synapses, including the Drosophila neuromuscular junction. Loss of wg (wingless) function alters the number and structure of boutons at this model synapse...
  80. pmc Schwann cells promote synaptogenesis at the neuromuscular junction via transforming growth factor-beta1
    Zhihua Feng
    Department of Biological Sciences, Section of Neurobiology, University of Southern California, Los Angeles, California 90089 2520, USA
    J Neurosci 28:9599-609. 2008
    ..sufficient and necessary for mediating the synapse-promoting effects of Schwann cells at the developing neuromuscular junction. Schwann cell-derived TGF-beta1 thus joins other astrocyte-derived synaptogenic factors in further ..
  81. pmc Oxidative stress induces overgrowth of the Drosophila neuromuscular junction
    Valerie J Milton
    Department of Biology and Hull York Medical School, University of York, York YO10 5DD, United Kingdom
    Proc Natl Acad Sci U S A 108:17521-6. 2011
    ..Our data describe a previously unexplored link between oxidative stress and synapse overgrowth via the JNK signaling pathway...
  82. pmc Ubiquitin carboxyl-terminal hydrolase L1 is required for maintaining the structure and function of the neuromuscular junction
    Fujun Chen
    Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
    Proc Natl Acad Sci U S A 107:1636-41. 2010
    ..These findings demonstrate that UCH-L1 is required for the maintenance of the structure and function of the NMJ and that the loss of normal UCH-L1 activity may result in neurodegeneration in the peripheral nervous system...
  83. ncbi Specific proteolytic cleavage of agrin regulates maturation of the neuromuscular junction
    Marc F Bolliger
    Department of Biochemistry, University of Zurich, 8057 Zurich, Switzerland
    J Cell Sci 123:3944-55. 2010
    During the initial stage of neuromuscular junction (NMJ) formation, nerve-derived agrin cooperates with muscle-autonomous mechanisms in the organization and stabilization of a plaque-like postsynaptic specialization at the site of nerve-..
  84. ncbi The role of glial cells in the formation and maintenance of the neuromuscular junction
    Zhihua Feng
    Section of Neurobiology, Department of Biological Sciences, University of Southern California, 3641 Watt Way, Los Angeles, CA 90089 2520, USA
    Ann N Y Acad Sci 1132:19-28. 2008
    The vertebrate neuromuscular junction (NMJ) is a "tripartite" synapse, composed of three cellular elements: the presynaptic nerve terminal, the postsynaptic specialization, and synapse-associated glial cells, called perisynaptic Schwann ..
  85. 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
    The formation of the vertebrate neuromuscular junction (NMJ) requires the receptor tyrosine kinase MuSK and the adaptor molecule rapsyn...
  86. ncbi Glycobiology of the neuromuscular junction
    Paul T Martin
    Department of Neuroscience, Glycobiology Research and Training Center, University of California San Diego, School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
    J Neurocytol 32:915-29. 2003
    ..Here, I will review the evidence that there are unique synaptic carbohydrates at the neuromuscular junction. Then, I will review the evidence that such carbohydrates can affect the function of synaptic proteins, ..
  87. ncbi Genetic evidence that relative synaptic efficacy biases the outcome of synaptic competition
    Mario Buffelli
    Department of Anatomy and Neurobiology, Washington University School of Medicine, 660 South Euclid, St Louis, Missouri 63110, USA
    Nature 424:430-4. 2003
    ..At the neuromuscular junction, where synapse elimination has been analysed in detail, muscle fibres are initially innervated by multiple ..
  88. ncbi Beta-bungarotoxin-induced depletion of synaptic vesicles at the mammalian neuromuscular junction
    S Prasarnpun
    School of Neurology, Neurobiology and Psychiatry, Faculty of Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
    Neuropharmacology 47:304-14. 2004
    ..toxin were similar to control values, and the binding of FITC-labelled alpha-bungarotoxin to nAChR at the neuromuscular junction was unchanged...
  89. ncbi Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure
    O Agbulut
    , UMR 7000, CNRS, Paris, France
    Cell Motil Cytoskeleton 49:51-66. 2001
    ..the consequences of an absence of desmin on the mechanisms of regeneration and the integrity of the neuromuscular junction. The muscles of desmin knock-out and wild-type mice were made to regenerate by injecting cardiotoxin and ..
  90. ncbi Neuregulins at the neuromuscular synapse: past, present, and future
    Mendell Rimer
    Section of Neurobiology, Institute for Neuroscience and Institute for Cellular and Molecular Biology, University of Texas at Austin, Austin, Texas 78712 0248, USA
    J Neurosci Res 85:1827-33. 2007
    At the developing vertebrate neuromuscular junction, neuregulins are growth/differentiation factors essential for terminal Schwann cell survival...
  91. ncbi Antibody effector mechanisms in myasthenia gravis-pathogenesis at the neuromuscular junction
    Alejandro M Gomez
    Neuroimmunology Group, Department of Neuroscience, School of Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands
    Autoimmunity 43:353-70. 2010
    ..Both AChR and MuSK are expressed on the postsynaptic membrane of the neuromuscular junction (NMJ), which is a highly specialized region of the muscle dedicated to receive and process signals from ..
  92. ncbi Destabilization of the neuromuscular junction by proteolytic cleavage of agrin results in precocious sarcopenia
    Lukas Bütikofer
    University of Zurich, Department of Biochemistry, Winterthurerstrasse 190, CH 8057 Zurich, Switzerland
    FASEB J 25:4378-93. 2011
    ..Our results define neurotrypsin- and age-dependent sarcopenia as the common final outcome of 2 etiologically distinct entities...
  93. pmc Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
    Karen K Y Ling
    Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089 2520, USA
    Hum Mol Genet 21:185-95. 2012
    ..Our findings suggest that neuromuscular denervation in vulnerable muscles is a widespread pathology in SMA, and can serve as a preparation for elucidating the biological basis of synapse loss, and for evaluating therapeutic efficacy...
  94. pmc Optimised and rapid pre-clinical screening in the SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS)
    Richard J Mead
    Sheffield Institute for Translational Neuroscience, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, United Kingdom
    PLoS ONE 6:e23244. 2011
    ..Such an approach will increase throughput for reduced costs, whilst reducing the severity of the experimental procedures involved...
  95. ncbi Presynaptic development at the Drosophila neuromuscular junction: assembly and localization of presynaptic active zones
    A Prokop
    Department of Zoology, University of Cambridge, United Kingdom
    Neuron 17:617-26. 1996
    We describe the extent to which presynaptic structures at the embryonic neuromuscular junction of Drosophila can form in mutants where development of postsynaptic somatic muscles is affected...
  96. ncbi Myotonic dystrophy transgenic mice exhibit pathologic abnormalities in diaphragm neuromuscular junctions and phrenic nerves
    Petrica Adrian Panaite
    Neurology Service, Centre Hospitalier Universitaire Vaudois, Switzerland
    J Neuropathol Exp Neurol 67:763-72. 2008
    ....
  97. ncbi Increased neurotransmitter release at the neuromuscular junction in a mouse model of polyglutamine disease
    José L Rozas
    Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Rocío Consejo Superior de Investigaciones Científicas CSIC Universidad de Sevilla, Departamento de Fisiología Médica y Biofísica Universidad de Sevilla, 41009 Sevilla, Spain
    J Neurosci 31:1106-13. 2011
    ..Here, we have studied synaptic transmission at the neuromuscular junction of transgenic mice expressing a mutant form of htt (R6/1 mice)...
  98. ncbi 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
    ..between positive and negative signals is necessary for remodeling of postsynaptic structures at the neuromuscular junction. Here we report that Wnt3a negatively regulates acetylcholine receptor (AChR) clustering by repressing the ..
  99. pmc Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
    Kum Loong Boon
    Center for Molecular Neurobiology, Department of Neuroscience, Ohio State University, Columbus, OH, USA
    Hum Mol Genet 18:3615-25. 2009
    ..Our analysis indicates the requirement for Smn in motoneurons to maintain SV2 in presynaptic terminals indicating that Smn, either directly or indirectly, plays a role in presynaptic integrity...
  100. ncbi Integrins regulate DLG/FAS2 via a CaM kinase II-dependent pathway to mediate synapse elaboration and stabilization during postembryonic development
    Kelly Beumer
    Department of Biology, University of Utah, Salt Lake City, UT 84112 0840, USA
    Development 129:3381-91. 2002
    ..all known to regulate the postembryonic development of synaptic terminal arborization at the Drosophila neuromuscular junction (NMJ)...
  101. pmc FM 1-43 labeling of synaptic vesicle pools at the Drosophila neuromuscular junction
    Patrik Verstreken
    VIB, Department of Molecular and Developmental Genetics and K U Leuven, Center for Human Genetics, Leuven, Belgium
    Methods Mol Biol 440:349-69. 2008
    ..Most synapses, including the Drosophila neuromuscular junction (NMJ), can also recycle synaptic vesicles directly by closing the fusion pore, a process referred to as "..

Research Grants71

  1. Agrin/alpha 3 Na,K-ATPase signaling at the neuromuscular junction
    Martin A Smith; Fiscal Year: 2012
    ..neurons and the skeletal muscle fibers they innervate that takes place at a specialized contact called the neuromuscular junction. Disruption of this system by disease, as occurs in various myasthenic disorders, spinal muscular atrophy, ..
  2. Genetics of the Neuromuscular Junction: Mechanisms and Disease Models
    Robert W Burgess; Fiscal Year: 2013
    ....
  3. Cellular and Animal Models of FUS Mutations in ALS
    Eric J Huang; Fiscal Year: 2013
    ..development and maintenance of synaptic connectivity of motor neurons within the spinal cord and at the neuromuscular junction (NMJ). We propose two specific aims to achieve these goals...
  4. Ca Signaling in Progression of Amyotrophic Lateral Sclerosis in Skeletal Muscle
    Jingsong Zhou; Fiscal Year: 2013
    ..project will test the hypothesis that "during the development of ALS, action potential activity at the neuromuscular junction (NMJ) will cause local Ca overload in mitochondria compromised by the presence of mutant SOD1...
  5. The Role of PGC-1aplha in the Pathogenesis of Myotonic Dystrophy Type 1
    Xiang Fang; Fiscal Year: 2013
    ..respiration, metabolism of fatty acid and glucose and reactive oxygen species (ROS), and activity of the neuromuscular junction (NMJ)...
  6. Determinants of developing efferent synapses in the mammalian cochlea
    ISABELLE CATHERINA ROUX; Fiscal Year: 2013
    ..The extensive characterization of synapse formation and maintenance at the neuromuscular junction can then aid our understanding on how these processes might work in the inner ear.
  7. Nemo-Like Kinase and the Pathogenesis of Spinal and Bulbar Muscular Atrophy
    TIFFANY WERLYNE TODD; Fiscal Year: 2013
    ..a genetic interaction between NLK and the mutant AR using both photoreceptor neurons and the motor neurons/neuromuscular junction as model tissues...
  8. Unconventional Synaptic Modulation at the Vertebrate Neuromuscular Junction
    Clark A Lindgren; Fiscal Year: 2010
    ..have been known about for many years;however, their participation in synaptic modulation at the vertebrate neuromuscular junction (NMJ), where a motor nerve synapses onto a muscle cell, is a more recent finding...
  9. Mechanisms of degeneration in the spinal cord and musculoskeletal system in SMA
    SANIYA FAYZULLINA; Fiscal Year: 2013
    ..MN injury may b a secondary result of skeletal muscle or musculoskeletal pathology that causes neuromuscular junction abnormalities...
  10. Regulation of Synapse Morphogenesis in Drosophila
    David L Van Vactor; Fiscal Year: 2013
    ..Using the Drosophila neuromuscular junction (NMJ) as a genetic model system, we have discovered that miR- 8, a member of the highly conserved miR-200 ..
  11. Investigation of Anaphase Promoting Complex function in synaptic transmission
    Jennifer Kowalski; Fiscal Year: 2012
    ..that, in addition to regulating glutamatergic synapses, the APC negatively regulates transmission at the neuromuscular junction (NMJ), a tripartite synapse in C...
  12. Cellular and Molecular Analysis of Defects at Aging Neuromuscular Synapses
    Joshua R Sanes; Fiscal Year: 2012
    ..and specific decline in levels of known developmentally important molecules (laminins and agrin) at aging neuromuscular junction (NMJs), the synapses made by motoneurons on muscle fibers...
  13. Mechanisms of diaphragm muscle dysfunction in critical-illness myopathy
    CATHERINE S SASSOON; Fiscal Year: 2012
    ..myopathy," occurs commonly in patients receiving prolonged mechanical ventilation combined with both neuromuscular junction blocking agents (NMBA) and corticosteroid (methylprednisolone, MP)...
  14. Role of miR-8 and Ena in Synaptic Structure and Function
    CARLOS MANUEL LOYA; Fiscal Year: 2010
    ..eliminate microRNA activity with spatial and temporal specificity, we have discovered that miR-8 promotes neuromuscular junction (NMJ) growth by muscle-specific repression of Ena, a well-established regulator of actin dynamics...
  15. The role of Usp 14 in regulating neuronal function
    SCOTT MICHAEL WILSON; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Alterations in the neuromuscular junction (NMJ) have recently been reported in motor neuron diseases such as Spinal muscular atrophy (SMA);however, little is known about the pathways that regulate ..
  16. Role of ERK1/2 in Neuromuscular Synapses and Myofiber Development in vivo
    Mendell Rimer; Fiscal Year: 2013
    ..receptor (AChR) clustering and other aspects of postsynaptic differentiation at the vertebrate neuromuscular junction (NMJ), the synapse between a motoneuron in the spinal cord and a skeletal muscle fiber...
  17. Receptors for clostridial neurotoxins
    Edwin R Chapman; Fiscal Year: 2010
    ..cleaves SNARE proteins in the cytosol, thereby blocking the release of neurotransmitters at the neuromuscular junction. This can result in paralysis and death...
  18. Phase II Trial of methotrexate in myasthenia gravis FDA IND#:101,306 01/06/2008
    Richard J Barohn; Fiscal Year: 2012
    ..disease in which there are antibodies that bind to the acetylcholine receptor and interfere with neuromuscular junction transmission. The estimated prevalence is 20/100,000...
  19. Congenital Myasthenic Syndromes: Pathogenic Mechanisms
    RICARDO ANIBAL MASELLI; Fiscal Year: 2013
    ..group of inborn diseases characterized by impaired transmission of electrical impulses at the neuromuscular junction (NMJ), result from defects in one of multiple genes involved with the function of the NMJ...
  20. GENETIC ANALYSIS OF SYNAPSE FORMATION AND FUNCTION
    Kendal Broadie; Fiscal Year: 2013
    ..interactive roles of secreted signals and extracellular matrix proteoglycans in the development of neuromuscular junction (NMJ) synapses...
  21. Role of Target-derived FGFs in Maintaining and Repairing Synapses
    Gregorio Valdez; Fiscal Year: 2013
    ..In this proposal, I hypothesize that maintaining the normal function of the neuromuscular junction (NMJ), a large and experimentally accessible synapse formed between motor neurons and muscles fibers, ..
  22. Molecular mechanisms of aging in the intrinsic laryngeal muscles
    Colleen McMullen; Fiscal Year: 2009
    ..to the NIDCD Small Grant (R03) Program, will achieve two objectives: (1) it will determine how age alters neuromuscular junction organization and function in the intrinsic laryngeal muscles;(2) it will provide a mechanism to further ..
  23. Investigating the Role of Atg1 in the Regulation of Glutamate Receptors
    Faith Liebl; Fiscal Year: 2009
    ..A recent forward genetic screen for mutations that affect GluR cluster formation at the Drosophila neuromuscular junction revealed that the autophagy-specific gene 1 (Atg1) is necessary for the formation of glutamate receptor (..
  24. Heparan sulfate proteoglycans in aging and development
    GREGORY COLE; Fiscal Year: 2009
    ..on its involvement in the aggregation of acetylcholine receptors (AChRs) during synaptogenesis at the neuromuscular junction (NMJ)...
  25. Dynactin function in axons, synapses, and neurodegenerative disease
    Thomas Lloyd; Fiscal Year: 2013
    ..at the distal-most end of synapses (called terminal boutons) and block neurotransmitter release at the neuromuscular junction (NMJ)...
  26. Maturation and Maintenance of the Postsynaptic Apparatus
    Joshua R Sanes; Fiscal Year: 2012
    ..The simplicity, size and accessibility of the skeletal neuromuscular junction (NMJ) make it an excellent preparation for studying these signals and the intracellular signal ..
  27. Can drug targets from parasitic nematodes be usefully expressed in C. elegans?
    ADRIAN JOHN WOLSTENHOLME; Fiscal Year: 2013
    ..channel (GluCl) formed by the AVR-14B gene product and the levamisole-sensitive receptor found at the neuromuscular junction. We have previously shown that we can express AVR-14B from parasitic nematodes in C...
  28. Synapse Loss in Spinal Muscular Atrophy
    Chien Ping Ko; Fiscal Year: 2010
    ..Aim 1 will test the hypothesis that the neuromuscular junction is not the major site of defects in type II SMA mice...
  29. Skeletal Muscle Mechanisms of Disease in ALS
    Lee J Martin; Fiscal Year: 2013
    ..cells alters their intracellular redox state, Ca2+ handling, and ion channel function and disrupts the neuromuscular junction, thus provoking MN degeneration...
  30. Development of Animal Models of Anti-MuSK Myasthenia
    David P Richman; Fiscal Year: 2011
    ..analysis of the pathogenic mechanisms underlying the human disease, including the mechanisms active at the neuromuscular junction (NMJ) and the mechanisms underlying the immune attack on this synapse...
  31. Activation and regulation of MuSK
    Lin Mei; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The mammalian neuromuscular junction (NMJ) is a cholinergic synapse between motoneuron axons and skeletal muscles that is essential to control muscle contraction...
  32. A Drosophila model of motor neuron disease using mutations in P150 / Dynactin.
    Thomas Lloyd; Fiscal Year: 2012
    ..Aim 2 will test the hypothesis that disease-associated P150 mutations cause motor neuron and neuromuscular junction pathology resembling that seen in ALS patients...
  33. Proteomics in Drosophila to Identify Autism Candidate Substrates of UBE3A
    Lawrence T Reiter; Fiscal Year: 2011
    ..Potential targets will be validated though genetic interactions in the eye and neuromuscular junction, binding assays in 293T cells and immunohistochemistry in the brains of both Ube3a-deficient and over-..
  34. Genetic Analysis of Neuromuscular Junction Formation
    John Y Kuwada; Fiscal Year: 2012
    ..PROJECT SUMMARY The molecular process regulating the localization of acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ) requires agrin, a factor secreted by motor neurons...
  35. Histone deacetylase 4 and neural activity-dependent muscle remodeling and atrophy
    Tso Pang Yao; Fiscal Year: 2012
    ..We have also found that HDAC4 is dynamically associated with the neuromuscular junction (NMJ) where it co-localizes with calcium/calmodulin dependent kinases (CaMK) and 14-3-3, two signaling ..
  36. Mechanism of FUS Mutations in the Pathogenesis of ALS
    Eric J Huang; Fiscal Year: 2013
    ..mouse models to determine how mutant FUS proteins lead to neuronal cell death and the maintenance of the neuromuscular junction. In support of this view, our data indicate that spinal motor neurons in transgenic mice expressing mutant ..
  37. 12th International Conference on Myasthenia Gravis and Related Disorders
    Gil I Wolfe; Fiscal Year: 2012
    ..will span the full spectrum of research from bench to bedside, including structure and function of the neuromuscular junction, advances in immunology, recent clinical developments related to MG, outcome measurements, clinical trial ..
  38. Distal effects of botulinum neurotoxins
    Edwin R Chapman; Fiscal Year: 2013
    ..e. at the neuromuscular junction), BoNT/A can also undergo retrograde transport, away from the site of uptake (nerve terminals in the ..
  39. Stress Regulation of Synaptic Transmission
    Derek Sieburth; Fiscal Year: 2013
    ..in vertebrates, WDR-23, in a functional genomic screen for genes required for synaptic transmission at the neuromuscular junction. We found that WDR-23 promotes the secretion of neurotransmitter from presynaptic terminals by ..
  40. Encoding Long Term Stability of Neuronal Function
    Bruno Marie; Fiscal Year: 2013
    ..The Drosophila neuromuscular junction (NMJ) provides a model that is well-suited to the study of fully developed MNs...
  41. FORMATION AND MAINTENANCE OF NEUROMUSCULAR SYNAPSES
    Wesley J Thompson; Fiscal Year: 2012
    ..applicant): How terminal Schwann cells (tSCs), glia that cover the terminal branches of motoneurons at the neuromuscular junction (NMJ), function in synaptic maintenance and turnover remains incompletely understood...
  42. A Multi-user Super Resolution Microscope for Developmental Biology
    SAMUEL M KUNES; Fiscal Year: 2010
    ..plans to decipher the development of complex patterns of axonal circuitry and synaptic connectivity at the neuromuscular junction, and between neurons in the parasympathetic ganglia and cerebral cortex, using Brainbow mice...
  43. An In Vitro Model of Stem Cell Innervation of Myotubes
    James J Hickman; Fiscal Year: 2013
    ..2) We have demonstrated neuromuscular junction formation between these rat and human derived motoneurons with myotubes derived from both rat and human ..
  44. The Frizzled Nuclear Import Pathway in Synapse Development
    VIVIAN G BUDNIK; Fiscal Year: 2013
    ..Using powerful strategies at the Drosophila larval neuromuscular junction (NMJ) we have uncovered a non-canonical Wnt signaling pathway, the Frizzled Nuclear Import (FNI) pathway, ..
  45. Molecular basis of age-related synaptic alterations
    Gregorio Valdez; Fiscal Year: 2010
    ..The neuromuscular junction (NMJ) is an ideal system to examine age-associated structural and functional alterations in synapses, and ..
  46. Pharmacotherapy to counterACT parathion-induced NMJ dysfunction
    Steven B Bird; Fiscal Year: 2013
    ..This failure of the neuromuscular junction (NMJ) has recently been shown to occur within hours after severe poisoning...
  47. The Dynamics of Synaptic Component at the Neuromuscular Junction of Living Animal
    Mohammed Akaaboune; Fiscal Year: 2013
    ..We are using the neuromuscular junction (NMJ), an excitatory cholinergic synapse between motor neurons and muscle fibers as our model system, ..
  48. Ubiquitin proteasome system regulation of synaptic function
    Kevin F Haas; Fiscal Year: 2010
    ..ubiquitin proteasome system (UPS) in regulating glutamatergic synaptic transmission, using the Drosophila neuromuscular junction (NMJ) and cultured hippocampal neurons as model synaptic systems...
  49. Mechanisms of prion transport
    Richard A Bessen; Fiscal Year: 2013
    ..The neuromuscular junction, a peripheral synapse, will be used to study transynaptic spread of prions between peripheral nerves and ..
  50. A 2-photon/confocal microscope for imaging of neural development and function
    Wesley J Thompson; Fiscal Year: 2010
    ..the zebrafish eye, and an NINDS-funded study of mechanisms by which glia shape synaptic development at the neuromuscular junction. The instrument will allow several experiments that are not possible now and accelerate the progress of ..
  51. Studies with Nicotinic Null Mutant Mice
    Michael J Marks; Fiscal Year: 2013
    ..of these subunits closely resemble the a1 subunit that is included in the nAChR that is expressed at the neuromuscular junction (the so-called peripheral-type receptor). These a1-like subunits are called: a2, a3.....
  52. Molecular Analysis of Synaptic Transmission Mutants
    William L Pak; Fiscal Year: 2010
    ..These mutants have also been shown to display specific impairments of synaptic transmission at the larval neuromuscular junction, indicating that the mutations affect basic mechanisms of synaptic transmission common in multiple classes ..
  53. Acetylcholine Receptor Genes in Slow-Channel Syndrome
    CHRISTOPHER MANUEL GOMEZ; Fiscal Year: 2013
    ..to mutations in the muscle acetylcholine receptor (AChR) that cause Ca2+ overload and degeneration of the neuromuscular junction (NMJ)...
  54. Role of DYRK1A/MNB in Synaptic growth and function
    Karen T Chang; Fiscal Year: 2013
    ..Our preliminary results show that DYRK1A/MNB is enriched in the neuromuscular junction, and DYRK1A/MNB hypomorphic mutations have profound effects on synaptic morphology and endocytosis...
  55. Preclinical Development of a Novel Therapeutic Strategy for LGMD2B
    SAMUEL T LAMITINA; Fiscal Year: 2010
    ..g. Acetylcholine Receptor (AChR) recycling &maintenance of synaptic transmission at the neuromuscular junction-NMJ). Using powerful pharmacogenetic tools available in the C...
  56. Soluble Neuregulins in Neuromuscular and Peripheral Nerve Development
    Jeffrey A Loeb; Fiscal Year: 2013
    ..the mechanisms that regulate the release and localization of neuregulin at the peripheral nerve and neuromuscular junction will be critical to design effective therapeutics for diseases of peripheral nerve and neuromuscular ..
  57. Novel Neuromuscular Protection to CounterACT Organophosphorus (OP) Poisoning
    Steven B Bird; Fiscal Year: 2012
    ..This failure of the neuromuscular junction (NMJ) has recently been shown to occur within hours after severe poisoning...
  58. Exploring a New Mouse Model of Locomotor Development
    MARTIN G HANSON; Fiscal Year: 2010
    ..subtype identity and ontology of locomotor activity with axonal guidance and early spinal cord and neuromuscular junction synapse formation remain to be discovered...
  59. Molecular Signatures of Amyotrophic Lateral Sclerosis in Skeletal Muscle
    Peter H King; Fiscal Year: 2013
    ..occur in skeletal muscle prior to motor neuron death and clinical onset, such as structural changes in the neuromuscular junction, muscle restricted mitochondrial dysfunction, and fiber atrophy...
  60. A role for the miroRNA miR-133b in synapse development
    MARY PATRICIA HEYER; Fiscal Year: 2010
    ..The neuromuscular junction (NMJ) has been extensively studied as a model synapse, as it is large and readily accessible...
  61. Protein Mass Spectrometry Core Facility for Neuroscience
    Thomas A Neubert; Fiscal Year: 2013
    ..Research areas that would greatly benefit from this core facility include nerve growth and regeneration, neuromuscular junction formation, cancer metastasis, axon guidance, axon domain assembly, lesion induced synaptic plasticity, ..
  62. Genetics and Cell Biology of Synaptic Development and Function
    Bing Zhang; Fiscal Year: 2013
    ..we aim to study the in vivo role of epsin and its signaling pathways in synaptic development at the neuromuscular junction (NMJ) of the fruit fly, Drosophila melanogaster...
  63. PHYSIOLOGIC RESPONSE TO THERMAL INJURY
    EDWARD PAVLIN; Fiscal Year: 1990
    ..system amenable to study of mechanisms of altered response is the nicotinic acetylcholine receptor of the neuromuscular junction. Burned patients develop resistance to non-depolarizing muscle relaxants (NDMR) such as d- tubocurarine...
  64. TESTOSTERONE EFFECTS ON DIAPHRAGM MUSCLE FATIGUE
    Cesar Blanco; Fiscal Year: 2002
    ..of type 2X and 2B DIA fibers and, also selectively increases axon terminal and motor endplate size at the neuromuscular junction of type 2X and 2B DIA fiber...
  65. Trafficking of BMP signals in neurons
    Guillermo Marques; Fiscal Year: 2007
    ..its receptor Wishful thinking (Wit) define a signaling system that regulates synaptic plasticity at the neuromuscular junction (NMJ)...
  66. STRUCTURAL AND FUNCTIONAL ANALYSIS OF AGRIN PROTEINS
    Martin Smith; Fiscal Year: 1991
    ..The neuromuscular junction is a useful model system in which to address these questions...
  67. TYROSINE PHOSPHORYLATION AT THE NEUROMUSCULAR JUNCTION
    Richard Huganir; Fiscal Year: 1999
    ..receptor (AChR) is the neurotransmitter-gated ion channel which mediates synaptic transmission at the neuromuscular junction (NMJ) and is the most well-characterized neurotransmitter receptor in biology...
  68. 11th International Myasthenia Gravis Meeting
    RICHARD BAROHN; Fiscal Year: 2007
    ..best understood autoimmune disorder and serves as a paradigm for understanding autoimmunity as well as the neuromuscular junction, a "model" synapse...
  69. NEUROMUSCULAR JUNCTION DEVELOPMENT IN VIVO
    GURKIRPAL SOHAL; Fiscal Year: 1992
    The long-term goal of this study is to enhance our understanding of the cause, prevention and cure of neuromuscular junction disorders...
  70. Characterizing the function of Syndecan during CNS development
    Karl Johnson; Fiscal Year: 2009
    ..including axon guidance at the midline of the central nervous system, and synapse growth at the developing neuromuscular junction. Extracellular binding partners that interact with the heparan sulfate sidechains of Sdc have recently ..
  71. MECHANISMS OF SYNAPSE FORMATION
    Bruce Wallace; Fiscal Year: 1999
    ..For example, at the vertebrate skeletal neuromuscular junction the axon terminal releases signals that direct the muscle fiber to organize a postsynaptic apparatus, ..