Relevant bibliographies by topics / Neuromuscular junction; Synapses; Myasthenic

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Academic literature on the topic 'Neuromuscular junction; Synapses; Myasthenic'

Author: Grafiati
Published: 4 June 2021
Last updated: 14 February 2022

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Journal articles on the topic "Neuromuscular junction; Synapses; Myasthenic"

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Iyer, Shama R., Sameer B. Shah, and Richard M. Lovering. "The Neuromuscular Junction: Roles in Aging and Neuromuscular Disease." International Journal of Molecular Sciences 22, no. 15 (July 28, 2021): 8058. http://dx.doi.org/10.3390/ijms22158058.

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The neuromuscular junction (NMJ) is a specialized synapse that bridges the motor neuron and the skeletal muscle fiber and is crucial for conversion of electrical impulses originating in the motor neuron to action potentials in the muscle fiber. The consideration of contributing factors to skeletal muscle injury, muscular dystrophy and sarcopenia cannot be restricted only to processes intrinsic to the muscle, as data show that these conditions incur denervation-like findings, such as fragmented NMJ morphology and corresponding functional changes in neuromuscular transmission. Primary defects in the NMJ also influence functional loss in motor neuron disease, congenital myasthenic syndromes and myasthenia gravis, resulting in skeletal muscle weakness and heightened fatigue. Such findings underscore the role that the NMJ plays in neuromuscular performance. Regardless of cause or effect, functional denervation is now an accepted consequence of sarcopenia and muscle disease. In this short review, we provide an overview of the pathologic etiology, symptoms, and therapeutic strategies related to the NMJ. In particular, we examine the role of the NMJ as a disease modifier and a potential therapeutic target in neuromuscular injury and disease.
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Ohkawara, Bisei, Mikako Ito, and Kinji Ohno. "Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology." International Journal of Molecular Sciences 22, no. 5 (February 28, 2021): 2455. http://dx.doi.org/10.3390/ijms22052455.

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Signal transduction at the neuromuscular junction (NMJ) is affected in many human diseases, including congenital myasthenic syndromes (CMS), myasthenia gravis, Lambert–Eaton myasthenic syndrome, Isaacs’ syndrome, Schwartz–Jampel syndrome, Fukuyama-type congenital muscular dystrophy, amyotrophic lateral sclerosis, and sarcopenia. The NMJ is a prototypic cholinergic synapse between the motor neuron and the skeletal muscle. Synaptogenesis of the NMJ has been extensively studied, which has also been extrapolated to further understand synapse formation in the central nervous system. Studies of genetically engineered mice have disclosed crucial roles of secreted molecules in the development and maintenance of the NMJ. In this review, we focus on the secreted signaling molecules which regulate the clustering of acetylcholine receptors (AChRs) at the NMJ. We first discuss the signaling pathway comprised of neural agrin and its receptors, low-density lipoprotein receptor-related protein 4 (Lrp4) and muscle-specific receptor tyrosine kinase (MuSK). This pathway drives the clustering of acetylcholine receptors (AChRs) to ensure efficient signal transduction at the NMJ. We also discuss three secreted molecules (Rspo2, Fgf18, and connective tissue growth factor (Ctgf)) that we recently identified in the Wnt/β-catenin and fibroblast growth factors (FGF) signaling pathways. The three secreted molecules facilitate the clustering of AChRs by enhancing the agrin-Lrp4-MuSK signaling pathway.
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Khan, Muzamil Majid, Danilo Lustrino, Willian A. Silveira, Franziska Wild, Tatjana Straka, Yasmin Issop, Emily O’Connor, et al. "Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease." Proceedings of the National Academy of Sciences 113, no. 3 (January 5, 2016): 746–50. http://dx.doi.org/10.1073/pnas.1524272113.

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The distribution and function of sympathetic innervation in skeletal muscle have largely remained elusive. Here we demonstrate that sympathetic neurons make close contact with neuromuscular junctions and form a network in skeletal muscle that may functionally couple different targets including blood vessels, motor neurons, and muscle fibers. Direct stimulation of sympathetic neurons led to activation of muscle postsynaptic β2-adrenoreceptor (ADRB2), cAMP production, and import of the transcriptional coactivator peroxisome proliferator-activated receptor γ-coactivator 1α (PPARGC1A) into myonuclei. Electrophysiological and morphological deficits of neuromuscular junctions upon sympathectomy and in myasthenic mice were rescued by sympathicomimetic treatment. In conclusion, this study identifies the neuromuscular junction as a target of the sympathetic nervous system and shows that sympathetic input is crucial for synapse maintenance and function.
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Rodova, Marianna, Kevin F. Kelly, Michael VanSaun, Juliet M. Daniel, and Michael J. Werle. "Regulation of the Rapsyn Promoter by Kaiso and δ-Catenin." Molecular and Cellular Biology 24, no. 16 (August 15, 2004): 7188–96. http://dx.doi.org/10.1128/mcb.24.16.7188-7196.2004.

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ABSTRACT Rapsyn is a synapse-specific protein that is required for clustering acetylcholine receptors at the neuromuscular junction. Analysis of the rapsyn promoter revealed a consensus site for the transcription factor Kaiso within a region that is mutated in a subset of patients with congenital myasthenic syndrome. Kaiso is a POZ-zinc finger family transcription factor which recognizes the specific core consensus sequence CTGCNA (where N is any nucleotide). Previously, the only known binding partner for Kaiso was the cell adhesion cofactor, p120 catenin. Here we show that δ-catenin, a brain-specific member of the p120 catenin subfamily, forms a complex with Kaiso. Antibodies against Kaiso and δ-catenin recognize proteins in the nuclei of C2C12 myocytes and at the postsynaptic domain of the mouse neuromuscular junction. Endogenous Kaiso in C2C12 cells coprecipitates with the rapsyn promoter in vivo as shown by chromatin immunoprecipitation assay. Minimal promoter assays demonstrated that the rapsyn promoter can be activated by Kaiso and δ-catenin; this activation is apparently muscle specific. These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso and δ-catenin. We propose a new model of synapse-specific transcription that involves the interaction of Kaiso, δ-catenin, and myogenic transcription factors at the neuromuscular junction.
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Rodríguez Cruz, Pedro M., Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, et al. "The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations." Brain 142, no. 6 (May 13, 2019): 1547–60. http://dx.doi.org/10.1093/brain/awz107.

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Abstract Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. Here, we report the phenotypic spectrum of 16 patients from 11 kinships harbouring homozygous or heteroallelic mutations in COL13A1. Clinical presentation was mostly at birth with hypotonia and breathing and feeding difficulties often requiring ventilation and artificial feeding. Respiratory crisis related to recurrent apnoeas, sometimes triggered by chest infections, were common early in life but resolved over time. The predominant pattern of muscle weakness included bilateral ptosis (non-fatigable in adulthood), myopathic facies and marked axial weakness, especially of neck flexion, while limb muscles were less involved. Other features included facial dysmorphism, skeletal abnormalities and mild learning difficulties. All patients tested had results consistent with abnormal neuromuscular transmission. Muscle biopsies were within normal limits or showed non-specific changes. Muscle MRI and serum creatine kinase levels were normal. In keeping with COL13A1 mutations affecting both synaptic structure and presynaptic function, treatment with 3,4-diaminopyridine and salbutamol resulted in motor and respiratory function improvement. In non-treated cases, disease severity and muscle strength improved gradually over time and several adults recovered normal muscle strength in the limbs. In summary, patients with COL13A1 mutations present mostly with severe early-onset myasthenic syndrome with feeding and breathing difficulties. Axial weakness is greater than limb weakness. Disease course improves gradually over time, which could be consistent with the less prominent role of COL13A1 once the neuromuscular junction is mature. This report emphasizes the role of collagens at the human muscle endplate and should facilitate the recognition of this disorder, which can benefit from pharmacological treatment.
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O’Connor, Emily, George Cairns, Sally Spendiff, David Burns, Stefan Hettwer, Armin Mäder, Juliane Müller, et al. "Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish." Cells 8, no. 8 (August 7, 2019): 848. http://dx.doi.org/10.3390/cells8080848.

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Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by impaired function of the neuromuscular junction (NMJ). This is due to defects in one of the many proteins associated with the NMJ. In three patients with CMS, missense mutations in a gene encoding an unconventional myosin protein, MYO9A, were identified as likely causing their disorder. Preliminary studies revealed a potential involvement of the RhoA/ROCK pathway and of a key NMJ protein, agrin, in the pathophysiology of MYO9A-depletion. In this study, a CRISPR/Cas9 approach was used to generate genetic mutants of MYO9A zebrafish orthologues, myo9aa/ab, to expand and refine the morphological analysis of the NMJ. Injection of NT1654, a synthetic agrin fragment compound, improved NMJ structure and zebrafish movement in the absence of Myo9aa/ab. In addition, treatment of zebrafish with fasudil, a ROCK inhibitor, also provided improvements to the morphology of NMJs in early development, as well as rescuing movement defects, but not to the same extent as NT1654 and not at later time points. Therefore, this study highlights a role for MYO9A at the NMJ, the first unconventional myosin motor protein associated with a neuromuscular disease, and provides a potential mechanism of action of MYO9A-pathophysiology.
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Phillips, William D., and Angela Vincent. "Pathogenesis of myasthenia gravis: update on disease types, models, and mechanisms." F1000Research 5 (June 27, 2016): 1513. http://dx.doi.org/10.12688/f1000research.8206.1.

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Myasthenia gravis is an autoimmune disease of the neuromuscular junction (NMJ) caused by antibodies that attack components of the postsynaptic membrane, impair neuromuscular transmission, and lead to weakness and fatigue of skeletal muscle. This can be generalised or localised to certain muscle groups, and involvement of the bulbar and respiratory muscles can be life threatening. The pathogenesis of myasthenia gravis depends upon the target and isotype of the autoantibodies. Most cases are caused by immunoglobulin (Ig)G1 and IgG3 antibodies to the acetylcholine receptor (AChR). They produce complement-mediated damage and increase the rate of AChR turnover, both mechanisms causing loss of AChR from the postsynaptic membrane. The thymus gland is involved in many patients, and there are experimental and genetic approaches to understand the failure of immune tolerance to the AChR. In a proportion of those patients without AChR antibodies, antibodies to muscle-specific kinase (MuSK), or related proteins such as agrin and low-density lipoprotein receptor-related protein 4 (LRP4), are present. MuSK antibodies are predominantly IgG4 and cause disassembly of the neuromuscular junction by disrupting the physiological function of MuSK in synapse maintenance and adaptation. Here we discuss how knowledge of neuromuscular junction structure and function has fed into understanding the mechanisms of AChR and MuSK antibodies. Myasthenia gravis remains a paradigm for autoantibody-mediated conditions and these observations show how much there is still to learn about synaptic function and pathological mechanisms.
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Cruz, Pedro M. Rodríguez, Jacqueline Palace, and David Beeson. "Congenital myasthenic syndromes and the neuromuscular junction." Current Opinion in Neurology 27, no. 5 (October 2014): 566–75. http://dx.doi.org/10.1097/wco.0000000000000134.

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Tomàs, Josep, Manel M. Santafé, Maria A. Lanuza, Neus García, Nuria Besalduch, and Marta Tomàs. "Silent synapses in neuromuscular junction development." Journal of Neuroscience Research 89, no. 1 (September 20, 2010): 3–12. http://dx.doi.org/10.1002/jnr.22494.

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Plomp, Jaap J. "Trans-synaptic homeostasis at the myasthenic neuromuscular junction." Frontiers in Bioscience 22, no. 7 (2017): 1033–51. http://dx.doi.org/10.2741/4532.

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Dissertations / Theses on the topic "Neuromuscular junction; Synapses; Myasthenic"

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Nichols, Philip Paul. "Transcriptional regulation of the human nicotinic acetylcholine receptor." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.326016.

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Härönen, H. (Heli). "Collagen XIII as a neuromuscular synapse organizer:roles of collagen XIII and its transmembrane form, and effects of shedding and overexpression in the neuromuscular system in mouse models." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526218014.

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Abstract Collagen XIII is a transmembrane protein consisting of intracellular, transmembrane and extracellular domains. The latter can be cleaved by proteases of the furin family at the plasma membrane and in the trans-Golgi network. Both the transmembrane and shed collagen XIII are expressed at the neuromuscular junctions of mice and humans. Such motor synapse passes the contraction signal from the central nervous system to the muscles and brings about all voluntary movements. Loss of both forms of collagen XIII in mice and loss-of-function mutations in the COL13A1 gene in humans leads to congenital myasthenic syndrome characterized by decreased neuromuscular transmission and muscle weakness. To study the roles of the two collagen XIII forms, a novel mouse line was engineered to harbor only the transmembrane collagen XIII by mutating the furin cleavage site. Transmembrane collagen XIII was discovered to be sufficient to prevent adhesion defects, Schwann cell invagination, the ineffective vesicle accumulation and dispersion of both acetylcholinesterase and acetylcholine receptors, phenotypes seen in the complete lack of collagen XIII. On the other hand, lack of shedding led to acetylcholine receptor fragmentation, aberrantly increased neurotransmission and presynaptic complexity. Remarkably, in vivo and in vitro interaction of collagen XIII and acetylcholinesterase-anchoring ColQ was detected. Furthermore, muscle and neuromuscular junction phenotype in the lack of both forms of collagen XIII closely resembled those in the human patients harboring mutations in the COL13A1 gene and these mice were validated as a good model for studying the human disease. Misexpression of collagen XIII was studied with mice exhibiting transgenic overexpression of the protein. Overexpression of collagen XIII was detected to be mostly extrasynaptic in the muscles of such mice. Exogenous collagen XIII was found at the myotendinous junctions, tenocytes and fibroblast-like cells, in addition to some localization in the near vicinity of the neuromuscular junctions. Collagen XIII expression was found, for the most part, to be normal at the neuromuscular junctions, although some were devoid of collagen XIII. The neuromuscular junction phenotype resembled in many ways the findings made in the lack of collagen XIII. Furthermore, acetylcholine receptor and nerve pattern was discovered to be widened
Tiivistelmä Kollageeni XIII on solukalvoproteiini, jonka rakenne koostuu solunsisäisestä, solukalvon läpäisevästä ja solun ulkoisesta osasta, joka pystytään entsymaattisesti irrottamaan solukalvoilta. Täten se esiintyy kahdessa eri muodossaan; solukalvomuotoisena ja soluvälitilan lihasperäisenä proteiinina hiirten ja ihmisten hermolihasliitoksessa. Tässä motorisessa synapsissa keskushermostosta peräisin oleva lihaksen supistumiskäsky välittyy lihakseen ja aikaan saa tahdonalaiset liikkeet. Molempien kollageeni XIII:n muotojen puute hiirillä ja COL13A1 geenin mutaatiot ihmisillä johtavat synnynnäiseen myasteeniseen oireyhtymään, jossa heikentynyt hermolihasliitoksen toiminta johtaa lihasheikkouteen. Kollageeni XIII:n eri muotojen hermolihasliitosvaikutusten selvittämiseksi luotiin hiirilinja, jossa kollageeni XIII ilmenee geneettisen manipulaation seurauksena ainoastaan solukalvomuodossaan. Tutkimukset osoittivat solukalvomuotoisen kollageeni XIII:n tarvittavan hermon ja lihaksen kiinnittymiseen toisiinsa, hermovälittäjäainerakkuloiden ankkuroimiseen hermopäätteeseen, estämään Schwannin solujen tunkeutuminen synapsirakoon, asetyylikoliiniesteraasin sitomiseen ja asetyylikoliinireseptorien vakaantumiseen. Soluvälitilan kollageeni XIII:n puutos puolestaan johti lihaksen puolen liitoksen pirstaloitumiseen sekä hermopäätteiden liialliseen kasvuun ja aktiivisuuteen. Kollageeni XIII todettiin sitoutuvan asetyylikoliiniesteraasia hermolihasliitokseen ankkuroivan kollageeni Q:n kanssa. Lisäksi molempien kollageeni XIII:n muotojen suhteen poistogeenisten hiirten hermolihas- ja lihaslöydökset todettiin muistuttavan COL13A1 geenin mutaatioista kärsivien ihmisten vastaavia löydöksiä todistaen nämä hiiret hyväksi tautimalliksi tulevaisuuden hoitomuotojen suunnitteluun. Kollageeni XIII:n ylimäärän vaikutusta hermolihasliitokseen ja lihaskudokseen tutkittiin kollageeni XIII:a ylenmäärin ilmentävillä hiirillä. Kollageeni XIII todettiin ilmentyvän ylenmäärin lihaksessa fibroblastinkaltaisissa soluissa, lihasjänneliitoksessa ja hermolihasliitoksen lähettyvillä, mutta ei hermolihasliitoksessa. Osa hermolihasliitoksista näissä hiirissä ilmensi jopa vähemmän kollageeni XIII:a kuin normaalisti. Asetyylikoliinireseptorien ja hermojen valtaama alue todettiin leventyneeksi ja hermolihasliitoslöydökset muistuttivat molempien kollageeni XIII:n muotojen suhteen poistogeenisien hiirten löydöksiä
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Liyanage, Yohan. "Agrin and ARIA at the human neuromuscular junction." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325947.

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Johnstone, Andrew Fredericks Moser. "PHYSIOLOGICAL AND ANATOMICAL ASSESSMENT OF SYNAPSES AT THE CRAYFISH NEUROMUSCULAR JUNCTION." UKnowledge, 2006. http://uknowledge.uky.edu/gradschool_diss/274.

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The crayfish, Procambarus clarkii, has a multitude of ideal sites in which synaptic transmission may be studied. Its opener muscle, being innervated by a single excitatory neuron is a good model for studying the structure/function of neuromuscular junctions since the preparation is identifiable from animal to animal and the nerve terminals are visible using a vital dye. This allows ease in finding a suitable site to record from in each preparation and offers the ability to relocate it anatomically. Marking a recorded site and rebuilding it through electron microscopy gives good detail of synaptic struture for assesment.In the first of these studies, low output sites known as stems (which lie between varicosities) were used to reduce n (number of release sites) in order to minimize synaptic complexity so individual quantal events could be analyzed by their unique parameters (area, peak, tau, rise time and latency). This was in attempt to uncover specific quantal signatures that could be traced back to the structure of the area recorded. It was found that even at stem regions synaptic structure is still complex having multiple synapses each of which could harbor a number of AZs. This gives insight as to how quantal analysis should be treated. Even low output synapses n must be treated at the AZ level.Synaptic depression was studied at the crayfish extensor muscle. By depressing the phasic neuron and recording from the muscle it appears thatdepression is a presynaptic phenomenon. The use of 5-HT gave insight to vesicular dynamics within the nerve terminal, by delaying depression and increasing maximum EPSP amplitude. TEM of phasic nerve terminals reveals no change in numbers of dock or RRP vesicles. Short term facilitation and vesicular dynamics were studied with the use of 5-HT and a neurotoxin TBOA, which blocks the glutamate transporter. In this study I showed differential mechanisms that control RRP and RP vesicles. By blocking glutamate reuptake, the RRP is depleted as shown by reduced EPSPs, but recovered with 5-HT application. The understanding of vesicle dynamics in any system has relevance for all chemical synapses.
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Broadie, Kendal Scot. "Development of the neuromuscular junction in the embryo of Drosophila melanogaster." Thesis, University of Cambridge, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.309336.

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Emhemmed, Yousef Mohammed. "Maximum likelihood analysis of neuronal spike trains." Thesis, University of Glasgow, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.326019.

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Lee, Chi Wai. "Development of the presynaptic nerve terminal during neuromuscular synaptogenesis /." View abstract or full-text, 2005. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202005%20LEE.

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Clausen, Lisa. "Effects of beta-2 adrenergic receptor agonists in DOK7 congenital myasthenic syndrome." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9360c51b-8497-47ca-bd16-e917a3614a25.

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Congenital myasthenic syndromes (CMS) are a rare group of heterogeneous disorders, characterised by compromised neuromuscular transmission and symptoms of fatiguable muscle weakness. CMS is caused by mutations in genes that affect the structure and function of the neuromuscular junction (NMJ). In about 20% of CMS cases, patients have mutations in the gene DOK7; the protein product, DOK7, is crucial for maintaining the dense aggregation of acetylcholine receptor (AChR) clusters at the NMJ. DOK7-CMS patients do not respond to treatment with acetylcholinesterase inhibitors which are the first line treatment for most forms of CMS. Instead, a dramatic response to beta-2 adrenergic receptor (ADRB2) agonists, such as salbutamol, is observed. The aim of this project was to investigate the molecular mechanisms that underlie the beneficial effects of ADRB2 agonists. Firstly, NMJ functioning was modelled in vitro by studying AChR clusters formed on cultured C2C12 mouse myotubes in the presence of WT DOK7. Overexpression of mutant DOK7 led to a significant reduction in the number of AChR clusters, explaining the pathogenic effect of the mutation. Importantly, incubation of myotubes with salbutamol increased the number of AChR clusters and their stability. The results provide the first evidence that ADRB2 agonists directly affect proteins located at the NMJ. However, this disease model suffers from limitations. The rest of the thesis focussed on developing alternative cell culture models to explore the AChR clustering pathway. The first model combined optogenetics and fluorescence lifetime microscopy to study the effects of ADRB2 activation on AChR cluster stability in single live cells. The second used CRISPR/Cas9 genome editing tools to directly introduce Dok7 mutations to the genome of C2C12 cells, thereby overcoming some of the drawbacks associated with DOK7 overexpression. Further manipulations of these novel model systems will be used in the future to examine in more detail the molecular events underlying the pathogenic effects of DOK7 mutations and the mechanisms of ADRB2 agonists.
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Spinner, Michael. "Identifying and Characterizing Novel Mechanisms in the Establishment and Maintenance of Synapses in Drosophila." Thesis, University of Oregon, 2018. http://hdl.handle.net/1794/23818.

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Synapse development is a stepwise process that requires the recruitment of key synaptic components to active zones, followed by continual maintenance of these structures to maintain connectivity and stability throughout the life of the organisms. Early synapse development requires the recruitment of early scaffolding proteins to establish stable connectivity as well as provide sites of recruitment of other vital synaptic proteins. One of the earliest proteins to be localized to the synapse is the conserved protein Syd-1. Syd-1 proteins contain a Rho GTPase activating protein (GAP)-like domain of unclear significance. Here I show that Drosophila Syd-1 interacts with all six fly Rhos and has GAP activity towards RAC1. I then show that lacks GAP activity localizes normally to presynaptic sites and is sufficient to recruit Nrx-1 but fails to cluster Brp normally and genetically interacts with RAC1 in vivo. I conclude that contrary to previous models, the GAP domain of fly Syd-1 is active and required for presynaptic development. Additionally, I’ve identified a previously uncharacterized protein, Vezl, as being critical for retrograde axonal transport and synaptic maintenance. I found that Vezl required for normal neuronal growth and that vezl loss resulted in decreased neuron size and the formation of swollen neuronal terminals that accumulated membrane markers and axonal transport cargo. I found that vezl mutants specifically retrograde transport of cargo and particularly affected signaling endosomes. The signaling endosomes were unable to initiate retrograde transport in vezl mutants and remained stuck within the distal boutons unable to relay their signaling peptides back to the nucleus. I conclude that Vezl is serving a role in attaching retrograde cargo to dynein and the microtubules specifically at neuron tips so that they can undergo retrograde axonal transport. This dissertation includes previously published and unpublished co-authored material.
2020-09-06
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Kerr, Kimberly S. "Glial Control of Synapse Assembly at the Drosophila Neuromuscular Junction: A Dissertation." eScholarship@UMMS, 2012. https://escholarship.umassmed.edu/gsbs_diss/642.

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Emerging evidence in both vertebrates and invertebrates is redefining glia as active and mobile players in synapse formation, maturation and function. However, the molecular mechanisms through which neurons and glia interact with each other to regulate these processes is not well known. My thesis work begins to understand how glia use secreted factors to modulate synaptic function. We use Drosophila melanogaster, a simple and genetically tractable model system, to understand the molecular mechanisms by which glia communicate with neurons at glutamatergic neuromuscular junctions (NMJs). We previously showed that a specific subtype of glia, subperineurial peripheral glia cells (SPGs), establish dynamic transient interactions with synaptic boutons of the NMJ and is required for synaptic growth. I identified a number of potential functional targets of the glial transcription factor, reverse polarity (repo) using ChIP-chip. I found that one novel target of Repo, Wg, is expressed in SPGs and is regulated by repo in vivo. Wnt/Wg signaling plays a pivotal role during synapse development and plasticity, including the coordinated development of the molecular architecture of the synapse. While previous studies demonstrated that Wg is secreted by motor neurons, herein I provide evidence that a significant amount of Wg at the NMJ is additionally provided by glia. I found that Wg derived from SPGs is required for proper GluR distribution and electrophysiological responses at the NMJ. In summary, my results show that Wg expression is regulated by Repo in SPGs and that glial-derived Wg, together with motor neuron-derived Wg, orchestrate different aspects of synapse development. My thesis work identifies synapse stabilization and/or assembly as a new role for SPGs and demonstrates that glial secreted factors such as Wg regulate synaptic function at the Drosophila NMJ.
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Books on the topic "Neuromuscular junction; Synapses; Myasthenic"

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Kuwabara, Satoshi. Neuromuscular junction disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0014.

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Ten seminal papers on disorders of the neuromuscular junction are described, covering historical aspects, recent advances in immunological, biological, and genetic researches, and future perspectives. Early descriptions of myasthenia gravis (MG) date back to the seventeenth century, and MG acquired its name in the nineteenth century. The first symptomatic treatment with cholinesterase inhibitors was reported in 1934, leading to the development of modern immunological therapies. Following the discovery of anti-MuSK (muscle-specific tyrosine kinase) antibody in 2001, MG is currently classified into three categories: AChR-positive, MuSK-positive, and dual-seronegative. Lambert-Eaton myasthenic syndrome was recognized in 1956, followed by the discovery of antibodies to voltage-gated calcium channels in the pre-synaptic membrane, facilitating diagnosis and improving the understanding of the pathophysiological mechanisms. Since the late twentieth century, many types of congenital myasthenic syndromes with pre-synaptic, synaptic, and post-synaptic defects have been identified, and a classification based on molecular genetics is in evolution.
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Nageshwaran, Sathiji, Heather C. Wilson, Anthony Dickenson, and David Ledingham. Disorders of muscle and neuromuscular junction. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199664368.003.0008.

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This chapter discusses the clinical features and evidence base for the pharmacological treatment of muscular disorders (inflammatory myopathies: polymyositis, dermatomyositis, and inclusion body myositis), mitochondrial myopathies, Duchenne muscular dystrophy (DMD), myotonic dystrophy, inherited neuromuscular channelopathies, non-dystrophic myotonias (myotonia congenita, paramyotonia congenita), periodic paralyses, acquired neuromyotonia (Isaac syndrome and Morvan syndrome), stiff person syndrome, and disorders of the neuromuscular junction (myasthenia gravis (MG), myasthenic crisis, and Lambert–Eaton myasthenic syndrome (LEMS).
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Sanders, Donald B. Clinical aspects of neuromuscular junction disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199688395.003.0023.

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Disorders that primarily impair neuromuscular transmission (NMT) produce weakness that characteristically affects certain muscle groups and varies with activity. Acquired, autoimmune myasthenia gravis (MG) is the most common of these disorders. Much less common are genetic abnormalities of the neuromuscular junction (NMJ), the Lambert–Eaton myasthenic syndrome (LEMS), and toxic effects of various biological and chemical agents. The diagnosis of MG or LEMS is suspected from the history and clinical findings, and is confirmed in most patients by the presence of specific auto-antibodies. The precise diagnosis of most genetic myasthenic syndromes may require sophisticated DNA analysis. Impaired NMT can be confirmed in all of these conditions by repetitive nerve stimulation (RNS) testing and measuring the neuromuscular jitter. Treatment of MG requires selecting among several therapeutic options, taking into consideration the clinical characteristics of the individual patient. Treatment of LEMS and genetic myasthenic syndromes is more limited.
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Majumdar, Debolina Guha. Functional analysis of Drosophila Myosin VI in larval neuromuscular junction synapses. 2007.

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5

Murray, E. Lee, and Veda V. Vedanarayanan. Neuromuscular Disorders. Edited by Karl E. Misulis and E. Lee Murray. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190259419.003.0021.

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The hospital neurologist may encounter neuromuscular disorders as known chronic conditions that are exacerbated by a hospital stay, be the principal reason for admission, or develop during a prolonged hospitalization. This chapter details the presentation, diagnosis, and management of conditions affecting the peripheral nerves and neuromuscular junction, such as myasthenia gravis, Lambert-Eaton (myasthenic) syndrome, botulism, and tick paralysis; as well as muscular weakness from various causes such as rhabdomyolysis, critical illness neuromyopathy, inflammatory myopathies, muscular dystrophies, periodic paralysis, and metabolic and endocrine myopathies. Also discussed are motoneuron degeneration, including amyotrophic lateral sclerosis and progressive muscle atrophy, and neuromuscular respiratory failure.
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Katirji, Bashar. Electrodiagnostic Findings in Neuromuscular Disorders. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0004.

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Neuromuscular disorders are often classified into four major categories: anterior horn cell disorders, peripheral neuropathies, neuromuscular junction disorders and myopathies. This chapter discusses the electrodiagnostic and clinical EMG findings in these various neuromuscular disorders. Peripheral neuropathies are subdivided into focal mononeuropathies, radiculopathies, plexopathies and generalized peripheral polyneuropathies. Focal peripheral nerve lesions and generalized peripheral polyneuropathies may be axonal or demyelinating, and manifest quite distinctly on nerve conduction studies. Neuromuscular junction disorders may be presynaptic, as seen with the Lambert-Eaton myasthenic syndrome, or postsynaptic, as seen with myasthenia gravis.
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Katirji, Bashar. Case 21. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0025.

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Lambert-Eaton myasthenic syndrome is a rare yet very important neuromuscular disorder that may be difficult to confirm if not considered in the differential diagnosis. It is often misdiagnosed as myasthenic gravis or other nonspecific neuromuscular disorder. The electrodiagnostic findings in Lambert-Eaton myasthenic syndrome continue to be the cornerstone of the diagnosis. This case outlines the clinical and electrodiagnostic features of a patient with this syndrome and highlights the findings on repetitive nerve stimulation. It also discusses the practical approach in the search for occult malignancy. The distinguishing features among the various neuromuscular junction disorders are emphasized.
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Hopkins, Philip M. Neuromuscular physiology in anaesthetic practice. Edited by Jonathan G. Hardman. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199642045.003.0007.

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The pharmacological interventions that constitute general anaesthesia are targeted at producing unconsciousness and an immobile patient even in response to noxious stimuli. Surgical anaesthesia also requires skeletal muscle relaxation, the degree of which depends on the site and nature of the surgical procedure. The anaesthetist therefore needs an advanced level of knowledge and understanding of the function of nerves, synapses, and muscle in order to understand, from first principles, how the drugs they use every day mediate their effects. Nerves and muscle cells are termed excitable cells because the electrical potential across their cell membranes (membrane potential) can be rapidly and profoundly altered because of the presence of specialized ion channels. Some drugs, such as local anaesthetics, act on ion channels involved in nerve conduction while many others act on synaptic transmission, the neurochemical communication between neurons or between a neuron and its effector organ. The neuromuscular junction is a synapse of specific interest to anaesthetists because it is the site of action of neuromuscular blocking drugs. This chapter covers the fundamentals of cellular electrophysiology, structure and function of key ion channels, and the physiology of nerves, synapses, and skeletal muscle.
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(Editor), Mark A. Agius, David P. Richman (Editor), Robert H. Fairclough (Editor), and Ricardo A. Maselli (Editor), eds. Myasthenia Gravis and Related Disorders: Biochemical Basis for Disease of the Neuromuscular Junction (Annals of the New York Academy of Sciences, V. 998). New York Academy of Sciences, 2003.

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Katirji, Bashar. Case 17. Edited by Bashar Katirji. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603434.003.0021.

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Myasthenia gravis is a relatively common neuromuscular junction disorder. The diagnosis of myasthenia gravis may be challenging particularly in seronegative patients. This case starts by discussing the diagnostic modalities available to confirm the diagnosis of myasthenia gravis including serum antibodies, the Tensilon test, and the ice pack test. After a detailed discussion of the physiology of neuromuscular transmission, the case emphasizes the role of electrodiagnostic studies in the diagnosis of myasthenic gravis. This includes detailed findings on repetitive nerve stimulation recording distal and proximal muscles as well as single-fiber electromyography jitter studies. Finally, the diagnostic sensitivity of the available tests in myasthenia gravis is compared and a suggested electrodiagnostic strategy for patients with suspected myasthenic gravis is outlined.
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Book chapters on the topic "Neuromuscular junction; Synapses; Myasthenic"

1

Horga, Alejandro, and Rosaline Quinlivan. "Neuromuscular Junction Dysfunction Is Not Always Myasthenic." In Neuromuscular Disease, 233–36. London: Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-2389-7_49.

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Miller, Dery, Jenny Joseph, and Rocio Garcia-Santibanez. "Autoimmune Diseases of the Neuromuscular Junction: Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome." In Neuroimmunology, 309–20. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-61883-4_19.

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"Congenital Myasthenic Syndromes." In Neuromuscular Junction Disorders, 208–43. CRC Press, 2003. http://dx.doi.org/10.1201/9780203912966-9.

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"Nerve and muscle." In Oxford Assess and Progress: Medical Sciences, edited by Jade Chow, John Patterson, Kathy Boursicot, and David Sales. Oxford University Press, 2012. http://dx.doi.org/10.1093/oso/9780199605071.003.0016.

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Higher animals have four basic tissue types: epithelial tissue, connective tissue, nervous tissue, and muscle. Of these, nerve and muscle are grouped together as ‘excitable cells’ because the cell membrane has the ability to vary membrane ion conductance and membrane voltage so as to transmit meaningful signals within and between cells. Within excitable cells information is transmitted using either an amplitude-modulated (AM) code using slow, electrotonic potentials, or a frequency-modulated (FM) code when signalling is by action potentials. Much of the signalling between excitable cells occurs at chemical synapses where a chemical neurotransmitter is released from presynaptic cells and then interacts with postsynaptic membrane receptors. Clinical symptoms can arise when the release of chemical neurotransmitters is disturbed, or when availability of postsynaptic receptors is altered. Thus, a reduction in dopamine release from basal ganglia substantia nigra cells is found in Parkinson’s disease, while myasthenia gravis results from loss of nicotinic acetylcholine receptors at the neuromuscular junction of skeletal muscle. Sometimes transmission from cell to cell is not by chemical neurotransmitter but by electrical synapses, where gap-junctions provide direct electrical connectivity. Transmission between cardiac muscle cells occurs in this way. Some cardiac arrhythmias, such as Wolff –Parkinson–White syndrome, are a consequence of an abnormal path of electrical conduction between cardiac muscle fibres. Sensory cells on and within the body pass information via afferent pathways from the peripheral nervous system into the central nervous system (CNS). CNS processes and sensory information are integrated to produce outputs from the CNS. These outputs pass by various efferent routes to the effector organs: skeletal muscle, cardiac muscle, smooth muscle, and glands. It is through these effectors that the CNS is able to exert control over the body and to interact with the environment. Alterations of function anywhere in the afferent, integrative, or efferent aspects of the system, as well as defects in the effectors themselves, are likely to lead to significant clinical symptoms and signs. The efferent outflow from the CNS has two major components. One, the somatic nervous system, innervates only skeletal muscle. The other is the autonomic nervous system (ANS), which innervates cardiac muscle, smooth muscle, and the glands of the viscera and skin.
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"Synapses and the Neuromuscular Junction." In Basic Physiology for Anaesthetists, 231–38. Cambridge University Press, 2019. http://dx.doi.org/10.1017/9781108565011.056.

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"Synapses I – The Neuromuscular Junction (NMJ)." In Applied Surgical Physiology Vivas, 158–60. Cambridge University Press, 2004. http://dx.doi.org/10.1017/cbo9780511584268.048.

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Engel, Andrew G. "The Anatomy and Molecular Architecture of the Neuromuscular Junction." In Myasthenia Gravis and Myasthenic Disorders, 1–36. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199738670.003.0001.

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Plomp, Jaap J., and Hugh J. Willison. "Effects of Anti-ganglioside Antibodies at the Neuromuscular Junction." In Myasthenia Gravis and Myasthenic Disorders, 265–78. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199738670.003.0011.

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Ohno, Kinji, Mikako Ito, and Andrew G. "Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction." In Neuromuscular Disorders. InTech, 2012. http://dx.doi.org/10.5772/28879.

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Lisak, Robert P., and James Selwa. "Immune-Mediated Disease of the Neuromuscular Junction." In Neuroimmunology, 130–76. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190050801.003.0007.

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The chapter is concerned with disorders that affect the neuromuscular junction (NMJ). Myasthenia gravis (MG) is a prototypic antibody-mediated disease affecting the neuromuscular junction. The chapter looks at the epidemiology of MG. It also considers clinical manifestations and presentations, classification and staging, and diagnosis. The chapter also examines immunologic testing and issues such as pregnancy in MG. It considers future directions and treatment options in this area. Next, the chapter considers Lambert Eaton myasthenic syndrome (LEMS), which is a rare disease of the NMJ that is difficult to diagnose. The chapter looks at clinical manifestations, diagnosis, and treatment. Finally, the chapter briefly considers other immune-mediated diseases.
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