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Neuromuscular junction

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https://www.readbyqxmd.com/read/29053787/humanized-mutant-fus-drives-progressive-motor-neuron-degeneration-without-aggregation-in-fusdelta14-knockin-mice
#1
Anny Devoy, Bernadett Kalmar, Michelle Stewart, Heesoon Park, Beverley Burke, Suzanna J Noy, Yushi Redhead, Jack Humphrey, Kitty Lo, Julian Jaeger, Alan Mejia Maza, Prasanth Sivakumar, Cinzia Bertolin, Gianni Soraru, Vincent Plagnol, Linda Greensmith, Abraham Acevedo Arozena, Adrian M Isaacs, Benjamin Davies, Pietro Fratta, Elizabeth M C Fisher
Mutations in FUS are causative for amyotrophic lateral sclerosis with a dominant mode of inheritance. In trying to model FUS-amyotrophic lateral sclerosis (ALS) in mouse it is clear that FUS is dosage-sensitive and effects arise from overexpression per se in transgenic strains. Novel models are required that maintain physiological levels of FUS expression and that recapitulate the human disease-with progressive loss of motor neurons in heterozygous animals. Here, we describe a new humanized FUS-ALS mouse with a frameshift mutation, which fulfils both criteria: the FUS Delta14 mouse...
October 7, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29048368/the-structure-of-human-neuromuscular-junctions-some-unanswered-molecular-questions
#2
REVIEW
Clarke R Slater
The commands that control animal movement are transmitted from motor neurons to their target muscle cells at the neuromuscular junctions (NMJs). The NMJs contain many protein species whose role in transmission depends not only on their inherent properties, but also on how they are distributed within the complex structure of the motor nerve terminal and the postsynaptic muscle membrane. These molecules mediate evoked chemical transmitter release from the nerve and the action of that transmitter on the muscle...
October 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29046769/factors-that-affect-the-onset-of-action-of-non-depolarizing-neuromuscular-blocking-agents
#3
REVIEW
Yong Byum Kim, Tae-Yun Sung, Hong Seuk Yang
Neuromuscular blockade plays an important role in the safe management of patient airways, surgical field improvement, and respiratory care. Rapid-sequence induction of anesthesia is indispensable to emergency surgery and obstetric anesthesia, and its purpose is to obtain a stable airway, adequate depth of anesthesia, and appropriate respiration within a short period of time without causing irritation or damage to the patient. There has been a continued search for new neuromuscular blocking drugs (NMBDs) with a rapid onset of action...
October 2017: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29046475/evidence-for-mast-cells-contributing-to-neuromuscular-pathology-in-an-inherited-model-of-als
#4
Emiliano Trias, Sofía Ibarburu, Romina Barreto-Núñez, Valentina Varela, Ivan C Moura, Patrice Dubreuil, Olivier Hermine, Joseph S Beckman, Luis Barbeito
Evidence indicates that neuroinflammation contributes to motor neuron degeneration in amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease leading to progressive muscular paralysis. However, it remains elusive whether inflammatory cells can interact with degenerating distal motor axons, influencing the progressive denervation of neuromuscular junctions (NMJs). By analyzing the muscle extensor digitorum longus (EDL) following paralysis onset in the SOD1G93A rat model, we have observed a massive infiltration and degranulation of mast cells, starting after paralysis onset and correlating with progressive NMJ denervation...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29040265/analysis-of-peripheral-b-cells-and-autoantibodies-against-the-anti-nicotinic-acetylcholine-receptor-derived-from-patients-with-myasthenia-gravis-using-single-cell-manipulation-tools
#5
Tomohiro Makino, Ryuichi Nakamura, Maki Terakawa, Satoshi Muneoka, Kazuhiro Nagahira, Yuriko Nagane, Jyoji Yamate, Masakatsu Motomura, Kimiaki Utsugisawa
The majority of patients with myasthenia gravis (MG), an organ-specific autoimmune disease, harbor autoantibodies that attack the nicotinic acetylcholine receptor (nAChR-Abs) at the neuromuscular junction of skeletal muscles, resulting in muscle weakness. Single cell manipulation technologies coupled with genetic engineering are very powerful tools to examine T cell and B cell repertoires and the dynamics of adaptive immunity. These tools have been utilized to develop mAbs in parallel with hybridomas, phage display technologies and B-cell immortalization...
2017: PloS One
https://www.readbyqxmd.com/read/29037990/roles-for-the-vcp-co-factors-npl4-and-ufd1-in-neuronal-function-in-drosophila-melanogaster
#6
Dwayne J Byrne, Mark J Harmon, Jeremy C Simpson, Craig Blackstone, Niamh C O'Sullivan
The VCP-Ufd1-Npl4 complex regulates proteasomal processing within cells by delivering ubiquitinated proteins to the proteasome for degradation. Mutations in VCP are associated with two neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD), and extensive study has revealed crucial functions of VCP within neurons. By contrast, little is known about the functions of Npl4 or Ufd1 in vivo. Using neuronal-specific knockdown of Npl4 or Ufd1 in Drosophila melanogaster, we infer that Npl4 contributes to microtubule organization within developing motor neurons...
September 21, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29036836/a-panel-of-slow-channel-congenital-myasthenic-syndrome-mice-reveals-a-unique-locomotor-behavioral-signature
#7
José G Grajales-Reyes, Aurian García-González, José C María-Ríos, Gary E Grajales-Reyes, Manuel Delgado-Vélez, Carlos A Báez-Pagán, Orestes Quesada, Christopher M Gómez, José A Lasalde-Dominicci
Muscle nicotinic acetylcholine receptor (nAChR) mutations can lead to altered channel kinetics and neuromuscular junction degeneration, a neurodegenerative disorder collectively known as slow-channel congenital myasthenic syndrome (SCCMS). A multivariate analysis using running wheels was used to generate activity profiles for a variety of SCCMS models, uncovering unique locomotor patterns for the different nAChR mutants. Particularly, the αL251T and ɛL269F mutations exhibit decreased event distance, duration, and velocity over a period of 24 hours...
October 13, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29033630/impact-of-topiramate-on-rat-phrenic-nerve-hemidiaphragm-preparations
#8
Cem İsmail Küçükali, Erdem Tüzün, Asiye Nurten
INTRODUCTION: Topiramate has a negative modulatory effect on voltage-gated ion channels involved in neuromuscular junction transmission. To investigate the potential impact of topiramate on muscle contraction, phrenic nerve-hemidiaphragm preparations were used as a neuromuscular junction model. METHODS: Phrenic nerve-hemidiaphragm preparations were isolated from rats and were mounted in oxygenated Krebs solution. Preparations were stimulated in the presence of topiramate and phenytoin with a rectangular pulse at 0...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29031941/the-travel-diaries-of-tetanus-and-botulinum-neurotoxins
#9
Sunaina Surana, Andrew P Tosolini, Ione F G Meyer, Alexander D Fellows, Sergey S Novoselov, Giampietro Schiavo
Tetanus (TeNT) and botulinum (BoNT) neurotoxins, the causative agents of tetanus and botulism, respectively, are the most potent toxic molecules known to mankind. This extreme potency is attributed to: i) their specificity for essential components of the neurotransmitter release machinery present at vertebrate synapses, and ii) their high-affinity targeting to motor neurons by binding to polysialogangliosides and protein receptors. Comprising the clostridial neurotoxin family, TeNT and BoNTs engage distinct surface receptors and intracellular sorting pathways in neurons...
October 12, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29016857/biallelic-mutation-of-unc50-encoding-a-protein-involved-in-achr-trafficking-is-responsible-for-arthrogryposis
#10
Emanuela Abiusi, Manuela D'Alessandro, Klaus Dieterich, Loic Quevarec, Sandrina Turczynski, Aurore-Cecile Valfort, Paulette Mezin, Pierre Simon Jouk, Marta Gut, Ivo Gut, Jean Louis Bessereau, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Homozygosity mapping of disease loci combined with whole exome sequencing in a consanguineous family presenting with lethal AMC allowed the identification of a homozygous frameshift deletion in UNC50 gene (c.750_751del:p.Cys251Phefs*4) in the index case. To assess the effect of the mutation, an equivalent mutation in the Caenorhabditis elegans orthologous gene was created using CRISPR/Cas9...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28994789/focal-macropatch-recordings-of-synaptic-currents-from-the-drosophila-larval-neuromuscular-junction
#11
Alexander Vasin, Maria Bykhovskaia
Drosophila neuromuscular junction (NMJ) is an excellent model system to study glutamatergic synaptic transmission. We describe the technique of focal macropatch recordings of synaptic currents from visualized boutons at the Drosophila larval NMJ. This technique requires customized fabrication of recording micropipettes, as well as a compound microscope equipped with a high magnification, long-distance water immersion objective, differential interference contrast (DIC) optics, and a fluorescent attachment. The recording electrode is positioned on the top of a selected synaptic bouton visualized with DIC optics, epi-fluorescence, or both...
September 25, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28985942/effects-of-pyridostigmine-bromide-on-sh-sy5y-cells-an-in-vitro-neuroblastoma-neurotoxicity-model
#12
VerÔnica Farina Azzolin, Fernanda Barbisan, Luana Suéling Lenz, Cibele Ferreira Teixeira, Milena Fortuna, Thiago Duarte, Marta Maria Frescura Medeiros Duarte, Ivana Beatrice Mânica da Cruz
Pyridostigmine bromide (PB) is a reversible acetylcholinesterase (AChE) inhibitor and the first-choice for the treatment of symptoms associated with myasthenia gravis and other neuromuscular junction disorders. However, evidence suggested that PB could be associated with the Gulf War Illness characterised by the presence of fatigue, headaches, cognitive dysfunction, and musculoskeletal respiratory and gastrointestinal disturbances. Given that a potential neurotoxic effect of PB has not yet been completely elucidated, the present investigation used neural SH-SY5Y cells to evaluate the effect of PB on the cellular viability, cell apoptosis, modulation of the cell cycle, oxidative stress, and genotoxicity variables, which indicate neurodegeneration...
November 2017: Mutation Research
https://www.readbyqxmd.com/read/28981978/homeostatic-synaptic-plasticity-at-the-neuromuscular-junction-in-myasthenia-gravis
#13
Xueyong Wang, Mark M Rich
A number of studies in the past 20 years have shown that perturbation of activity of the nervous system leads to compensatory changes in synaptic strength that serve to return network activity to its original level. This response has been termed homeostatic synaptic plasticity. Despite the intense interest in homeostatic synaptic plasticity, little attention has been paid to its role in the prototypic synaptic disease, myasthenia gravis. In this review, we discuss mechanisms that have been shown to mediate homeostatic synaptic plasticity at the mammalian neuromuscular junction...
October 5, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28978466/post-transcriptional-inhibition-of-hsc70-4-hspa8-expression-leads-to-synaptic-vesicle-cycling-defects-in-multiple-models-of-als
#14
Alyssa N Coyne, Ileana Lorenzini, Ching-Chieh Chou, Meaghan Torvund, Robert S Rogers, Alexander Starr, Benjamin L Zaepfel, Jennifer Levy, Jeffrey Johannesmeyer, Jacob C Schwartz, Hiroshi Nishimune, Konrad Zinsmaier, Wilfried Rossoll, Rita Sattler, Daniela C Zarnescu
Amyotrophic lateral sclerosis (ALS) is a synaptopathy accompanied by the presence of cytoplasmic aggregates containing TDP-43, an RNA-binding protein linked to ∼97% of ALS cases. Using a Drosophila model of ALS, we show that TDP-43 overexpression (OE) in motor neurons results in decreased expression of the Hsc70-4 chaperone at the neuromuscular junction (NMJ). Mechanistically, mutant TDP-43 sequesters hsc70-4 mRNA and impairs its translation. Expression of the Hsc70-4 ortholog, HSPA8, is also reduced in primary motor neurons and NMJs of mice expressing mutant TDP-43...
October 3, 2017: Cell Reports
https://www.readbyqxmd.com/read/28973139/homeostatic-plasticity-can-be-induced-and-expressed-to-restore-synaptic-strength-at-neuromuscular-junctions-undergoing-als-related-degeneration
#15
Sarah Perry, Yifu Han, Anushka Das, Dion Dickman
Amyotrophic lateral sclerosis (ALS) is debilitating neurodegenerative disease characterized by motor neuron dysfunction and progressive weakening of the neuromuscular junction (NMJ). Hereditary ALS is strongly associated with variants in the human C9orf72 gene. We have characterized C9orf72 pathology at the Drosophila NMJ and utilized several approaches to restore synaptic strength in this model. First, we demonstrate a dramatic reduction in synaptic arborization and active zone number at NMJs following C9orf72 transgenic expression in motor neurons...
July 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28972545/neuromuscular-junction-dismantling-in-amyotrophic-lateral-sclerosis
#16
REVIEW
Valentina Cappello, Maura Francolini
Neuromuscular junction assembly and plasticity during embryonic, postnatal, and adult life are tightly regulated by the continuous cross-talk among motor nerve endings, muscle fibers, and glial cells. Altered communications among these components is thought to be responsible for the physiological age-related changes at this synapse and possibly for its destruction in pathological states. Neuromuscular junction dismantling plays a crucial role in the onset of Amyotrophic Lateral Sclerosis (ALS). ALS is characterized by the degeneration and death of motor neurons leading to skeletal muscle denervation, atrophy and, most often, death of the patient within five years from diagnosis...
October 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28970832/use-of-toll-like-receptor-agonists-to-induce-ectopic-lymphoid-structures-in-myasthenia-gravis-mouse-models
#17
Marieke Robinet, Bérengère Villeret, Solène Maillard, Mélanie A Cron, Sonia Berrih-Aknin, Rozen Le Panse
Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies against the acetylcholine receptor (AChR) at the neuromuscular junction. MG symptoms are characterized by muscle weaknesses. The thymus of MG patients is very often abnormal and possesses all the characteristics of tertiary lymphoid organs such as neoangiogenesis processes, overexpression of inflammatory cytokines and chemokines, and infiltration of B lymphocytes leading to ectopic germinal center (GC) development. We previously demonstrated that injections of mice with polyinosinic-polycytidylic acid [Poly(I:C)], a synthetic double-stranded RNA mimicking viral infection, induce thymic changes and trigger MG symptoms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28959261/a-novel-approach-to-reinstating-tolerance-in-experimental-autoimmune-myasthenia-gravis-using-a-targeted-fusion-protein-mcta1-t146
#18
Alessandra Consonni, Sapna Sharma, Karin Schön, Cristina Lebrero-Fernández, Elena Rinaldi, Nils Yngve Lycke, Fulvio Baggi
Reinstating tissue-specific tolerance has attracted much attention as a means to treat autoimmune diseases. However, despite promising results in rodent models of autoimmune diseases, no established tolerogenic therapy is clinically available yet. In the experimental autoimmune myasthenia gravis (EAMG) model several protocols have been reported that induce tolerance against the prime disease-associated antigen, the acetylcholine receptor (AChR) at the neuromuscular junction. Using the whole AChR, the extracellular part or peptides derived from the receptor, investigators have reported variable success with their treatments, though, usually relatively large amounts of antigen has been required...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28954869/the-long-3-utr-mrna-of-camkii-is-essential-for-translation-dependent-plasticity-of-spontaneous-release-in-drosophila-melanogaster
#19
Elena A Kuklin, Stephen Alkins, Baskar Bakthavachalu, Maria C Genco, Indulekha Sudhakaran, K Vijay Raghavan, Mani Ramaswami, Leslie C Griffith
A null mutation of the Drosophila calcium/calmodulin-dependent protein kinase II gene (CaMKII) was generated using homologous recombination. Null animals survive to larval and pupal stages due to a large maternal contribution of CaMKII mRNA, which consists of a short 3'- u n t ranslated r egion (UTR) form lacking regulatory elements that guide local translation. The selective loss of the long 3'UTR mRNA in CaMKII null larvae allows us to test its role in plasticity. Development and evoked function of the larval neuromuscular junction are surprisingly normal, but the resting rate of miniature excitatory junctional potentials (mEJPs) is significantly lower in CaMKII mutants...
September 27, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28953919/drosophila-studies-support-a-role-for-a-presynaptic-synaptotagmin-mutation-in-a-human-congenital-myasthenic-syndrome
#20
Mallory C Shields, Matthew R Bowers, McKenzie M Fulcer, Madelyn K Bollig, Patrick J Rock, Bryan R Sutton, Alysia D Vrailas-Mortimer, Hanns Lochmüller, Roger G Whittaker, Rita Horvath, Noreen E Reist
During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a proline residue within the C2B Ca2+-binding pocket of synaptotagmin is replaced by a leucine. The functional significance of this residue has not been investigated previously...
2017: PloS One
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