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Neuromuscular junction proteines

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https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#1
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29773756/mir126-5p-down-regulation-facilitates-axon-degeneration-and-nmj-disruption-via-a-non-cell-autonomous-mechanism-in-als
#2
Roy Maimon, Ariel Ionescu, Avichai Bonnie, Sahar Sweetat, Shane Wald-Altman, Shani Inbar, Tal Gradus, Davide Trotti, Miguel Weil, Oded Behar, Eran Perlson
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in Amyotrophic Lateral Sclerosis (ALS) pathology. Although the disease's etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and alterations in RNA metabolism. Here, we identified reduced levels of miR-126-5p in pre-symptomatic ALS male mice models, and an increase in its targets: axon destabilizing type-3 Semaphorins and their co-receptor Neuropilins. Utilizing compartmentalized in vitro co-cultures, we demonstrated that myocytes expressing diverse ALS-causing mutations promote axon degeneration and NMJ dysfunction, which were inhibited by applying Neuropilin1 (NRP1) blocking antibody...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29752552/collagen-vi-is-required-for-the-structural-and-functional-integrity-of-the-neuromuscular-junction
#3
Matilde Cescon, Ilaria Gregorio, Nane Eiber, Doriana Borgia, Aurora Fusto, Patrizia Sabatelli, Michele Scorzeto, Aram Megighian, Elena Pegoraro, Said Hashemolhosseini, Paolo Bonaldo
The synaptic cleft of the neuromuscular junction (NMJ) consists of a highly specialized extracellular matrix (ECM) involved in synapse maturation, in the juxtaposition of pre- to post-synaptic areas, and in ensuring proper synaptic transmission. Key components of synaptic ECM, such as collagen IV, perlecan and biglycan, are binding partners of one of the most abundant ECM protein of skeletal muscle, collagen VI (ColVI), previously never linked to NMJ. Here, we demonstrate that ColVI is itself a component of this specialized ECM and that it is required for the structural and functional integrity of NMJs...
May 11, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29736782/exercise-attenuates-age-associated-changes-in-motoneuron-number-nucleocytoplasmic-transport-proteins-and-neuromuscular-health
#4
Ashley Gillon, Kathrine Nielsen, Charlotte Steel, Jon Cornwall, Philip Sheard
Life expectancy continues to extend, although frailty caused by loss of skeletal muscle mass continues unimpeded. Muscle atrophy caused by withdrawal of motor nerves is a feature of old age, as it is in amyotrophic lateral sclerosis (ALS) in which skeletal muscle denervation results from motoneuron death. In ALS, direct links have been established between motoneuron death and altered nucleocytoplasmic transport, so we ask whether similar defects accompany motoneuron death in normal ageing. We used immunohistochemistry on mouse tissues to explore potential links between neuromuscular junction (NMJ) degeneration, motoneuron death and nucleocytoplasmic transport regulatory proteins...
May 7, 2018: GeroScience
https://www.readbyqxmd.com/read/29710836/animal-models-of-the-neuromuscular-junction-vitally-informative-for-understanding-function-and-the-molecular-mechanisms-of-congenital-myasthenic-syndromes
#5
REVIEW
Richard G Webster
The neuromuscular junction is the point of contact between motor nerve and skeletal muscle, its vital role in muscle function is reliant on the precise location and function of many proteins. Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of neuromuscular transmission with 30 or more implicated proteins. The use of animal models has been instrumental in determining the specific role of many CMS-related proteins. The mouse neuromuscular junction (NMJ) has been extensively studied in animal models of CMS due to its amenability for detailed electrophysiological and histological investigations and relative similarity to human NMJ...
April 29, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29701915/complete-adult-neurogenesis-within-a-wallerian-degenerating-nerve-expressed-as-an-ectopic-ganglion
#6
Tomonori Nakano, Shigeru Kurimoto, Shuichi Kato, Kenichi Asano, Takuma Hirata, Hiroshi Kiyama, Hitoshi Hirata
Neurogenesis in the adult peripheral nervous system remains to be demonstrated. We transplanted embryonic neural stem cells into a Wallerian-degenerating nerve graft, and observed development of a nodular structure consisting of neurons, glia, and Schwann cells. Histological analysis revealed a structure loosely resembling the spinal cord, including a synaptic network that formed along the neuron. Furthermore, the new axons re-innervated the paralyzed muscle, forming both de novo and revived neuromuscular junctions...
April 27, 2018: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/29697388/-transformation-of-myasthenia-gravis-into-amyotrophic-lateral-sclerosis-or-their-concomitance-case-review
#7
N Kvirkvelia, R Shakarishvili, T Kanashvili
The authors present a case of 75-year-old male patient with typical clinical and electroneuromyographic signs of Amyotrophic Lateral Sclerosis (ALS), manifested in 4 years after a diagnosis of generalized Myasthenia Gravis (MG) had been made. The aim of the article is to assess the possibility of pathogenetic integrated comorbidity of MG and ALS, which may have resulted from a common aberrant immune process and to emphasize the importance of detailed clinical analysis and adequate diagnostic methods essential for correct diagnosis and treatment...
March 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29693600/exploiting-botulinum-neurotoxins-for-the-study-of-brain-physiology-and-pathology
#8
REVIEW
Matteo Caleo, Laura Restani
Botulinum neurotoxins are metalloproteases that specifically cleave N -ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins in synaptic terminals, resulting in a potent inhibition of vesicle fusion and transmitter release. The family comprises different serotypes (BoNT/A to BoNT/G). The natural target of these toxins is represented by the neuromuscular junction, where BoNTs block acetylcholine release. In this review, we describe the actions of botulinum toxins after direct delivery to the central nervous system (CNS), where BoNTs block exocytosis of several transmitters, with near-complete silencing of neural networks...
April 25, 2018: Toxins
https://www.readbyqxmd.com/read/29666144/sporadic-amyotrophic-lateral-sclerosis-sals-skeletal-muscle-response-to-cerebrospinal-fluid-from-sals-patients-in-a-rat-model
#9
Shruthi Shanmukha, Gayathri Narayanappa, Atchayaram Nalini, Phalguni Anand Alladi, Trichur R Raju
Skeletal muscle atrophy is the most prominent feature of amyotrophic lateral sclerosis (ALS), an adult-onset neurodegenerative disease of motor neurons. However, the contribution of skeletal muscle to disease progression remains elusive. Our previous studies have shown that intrathecal injection of cerebrospinal fluid from sporadic ALS patients (ALS-CSF) induces several degenerative changes in motor neurons and glia of neonatal rats. Here, we describe various pathologic events in the rat extensor digitorum longus muscle following intrathecal injection of ALS-CSF...
April 16, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29663639/a-novel-ecel1-mutation-expands-the-phenotype-of-distal-arthrogryposis-multiplex-congenita-type-5d-to-include-pretibial-vertical-skin-creases
#10
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29662761/inflammation-and-age-associated-skeletal-muscle-deterioration-sarcopaenia
#11
REVIEW
Jinyu Wang, Kwok-Sui Leung, Simon Kwoon-Ho Chow, Wing-Hoi Cheung
Ageing is accompanied by chronic inflammatory responses due to elevated circulatory inflammatory cytokine production. Several inflammatory cytokines have been shown to be responsible for a decrease in muscle mass. However, little is known about the possible relationship between inflammation and sarcopaenia. This review aims to summarise the existing evidence about inflammation and sarcopaenia. Sarcopaenia is defined as an age-related decrease of muscle mass and/or muscle strength; it is caused by multiple factors, such as skeletal muscle atrophy, neuromuscular junction degeneration, hormone imbalance, cytokine imbalance, protein synthesis and proteolysis...
July 2017: Journal of Orthopaedic Translation
https://www.readbyqxmd.com/read/29656576/repurposing-carbamazepine-for-the-treatment-of-amyotrophic-lateral-sclerosis-in-sod1-g93a-mouse-model
#12
Jing-Jing Zhang, Qin-Ming Zhou, Sheng Chen, Wei-Dong Le
AIMS: To investigate the effect and mechanisms of carbamazepine (CBZ) on the onset and progression of amyotrophic lateral sclerosis (ALS) in SOD1-G93A mouse model. METHODS: Starting from 64 days of age, SOD1-G93A mice were orally administered with CBZ at 200 mg/kg once daily until death. The disease onset and life span of SOD1-G93A mice were recorded. Motor neurons (MNs) in anterior horn of spinal cord were quantified by Nissl staining and SMI-32 immunostaining...
April 14, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29655446/practical-anatomy-of-the-neuromuscular-junction-in-health-and-disease
#13
REVIEW
Hiroshi Nishimune, Kazuhiro Shigemoto
Neuromuscular junctions (NMJs) form between nerve terminals of spinal cord motor neurons and skeletal muscles, and perisynaptic Schwann cells and kranocytes cap NMJs. One muscle fiber has one NMJ, which is innervated by one motor nerve terminal. NMJs are excitatory synapses that use P/Q-type voltage-gated calcium channels to release the neurotransmitter acetylcholine. Acetylcholine receptors accumulate at the postsynaptic specialization called the end plate on the muscle fiber membrane, the sarcolemma. Proteins essential for the organization of end plates include agrin secreted from nerve terminals, Lrp4 and MuSK receptors for agrin, and Dok-7 and rapsyn cytosolic proteins in the muscle...
May 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29652933/rhogapp190-a-potential-player-in-tbph-mediated-neurodegeneration-in-drosophila
#14
Simona Langellotti, Giulia Romano, Fabian Feiguin, Francisco Ernesto Baralle, Maurizio Romano
TDP-43 is an ubiquitous and highly conserved ribonucleoprotein involved in several cellular processes including pre-mRNA splicing, transcription, mRNA stability and transport. Notwithstanding the evidence of TDP-43 involvement in the pathogenesis of different neurodegenerative disorders (i.e. ALS and FTLD), the underlying mechanisms are still unclear. Given the high degree of functional similarity between the human and fly orthologs of TDP-43, Drosophila melanogaster is a simple and useful model to study the pathophysiological role of this protein in vivo...
2018: PloS One
https://www.readbyqxmd.com/read/29649746/degradation-of-alpha-synuclein-by-dendritic-cell-factor-1-delays-neurodegeneration-and-extends-lifespan-in-drosophila
#15
Shiqing Zhang, Ruili Feng, Yanhui Li, Linhua Gan, Fangfang Zhou, Shiquan Meng, Qian Li, Tieqiao Wen
Parkinson's disease (PD) is a common neurodegenerative disease associated with the progressive loss of dopaminergic neurons in the substantia nigra. Proteinaceous depositions of alpha-synuclein (α-syn) and its mutations, A30P and A53T, are one important characteristic of PD. However, little is known about their aggregation and degradation mechanisms. Dendritic cell factor 1 (DCF1) is a membrane protein that plays important roles in nerve development in mouse. In this study, we aimed to show that DCF1 overexpression in a PD Drosophila model significantly ameliorates impaired locomotor behavior in third instar larvae and normalizes neuromuscular junction growth...
March 13, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29643068/hydrogen-peroxide-is-a-neuronal-alarmin-that-triggers-specific-rnas-local-translation-of-annexin-a2-and-cytoskeletal-remodeling-in-schwann-cells
#16
Samuele Negro, Marco Stazi, Marta Marchioretto, Toma Tebaldi, Umberto Rodella, Elisa Duregotti, Volker Gerke, Alessandro Quattrone, Cesare Montecucco, Michela Rigoni, Gabriella Viero
Schwann cells are key players in neuro-regeneration: they sense alarm signals released by degenerating nerve terminals and differentiate toward a pro-regenerative phenotype, with phagocytosis of nerve debris and nerve guidance. At the murine neuromuscular junction, hydrogen peroxide (H2 O2 ) is a key signal of Schwann cells activation in response to a variety of nerve injuries. Here we report that Schwann cells exposed to low doses of H2 O2 rewire the expression of several RNAs at both transcriptional and translational levels...
April 11, 2018: RNA
https://www.readbyqxmd.com/read/29626993/jack-bean-urease-modulates-neurotransmitter-release-at-insect-neuromuscular-junctions
#17
Thiago Carrazoni, Christine Nguyen, Lucas F Maciel, Andres Delgado-Cañedo, Bryan A Stewart, Angela B Lange, Chariston A Dal Belo, Celia R Carlini, Ian Orchard
BACKGROUND: Plants have developed a vast range of mechanisms to compete with phytophagous insects, including entomotoxic proteins such as ureases. The legume Canavalia ensiformis produces several urease isoforms, of which the more abundant is called Jack Bean Urease (JBU). Previews work has demonstrated the potential insecticidal effects of JBU, by mechanisms so far not entirely elucidated. In this work, we investigated the mechanisms involved in the JBU-induced activity upon neurotransmitter release on insect neuromuscular junctions...
April 2018: Pesticide Biochemistry and Physiology
https://www.readbyqxmd.com/read/29626165/collagen-xiii-is-required-for-neuromuscular-synapse-regeneration-and-functional-recovery-after-peripheral-nerve-injury
#18
Zarin Zainul, Anne Heikkinen, Hennariikka Koivisto, Iina Rautalahti, Mika Kallio, Shuo Lin, Heli Härönen, Oula Norman, Markus A Rüegg, Heikki Tanila, Taina Pihlajaniemi
Collagen XIII occurs as both a transmembrane-bound and a shed extracellular protein, and is able to regulate the formation and function of neuromuscular synapses. Its absence results in myasthenia, i.e. pre-and postsynaptic defects at the neuromuscular junction (NMJ), leading to destabilization of the motor nerves, muscle regeneration and atrophy. Mutations in COL13A1 have recently been found to cause congenital myasthenic syndrome (CMS), characterized by fatigue and chronic muscle weakness, which may be lethal...
April 6, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29615874/structural-and-molecular-properties-of-insect-type-ii-motor-axon-terminals
#19
Bettina Stocker, Christina Bochow, Christine Damrau, Thomas Mathejczyk, Heike Wolfenberg, Julien Colomb, Claudia Weber, Niraja Ramesh, Carsten Duch, Natalia M Biserova, Stephan Sigrist, Hans-Joachim Pflüger
A comparison between the axon terminals of octopaminergic efferent dorsal or ventral unpaired median neurons in either desert locusts ( Schistocerca gregaria ) or fruit flies ( Drosophila melanogaster ) across skeletal muscles reveals many similarities. In both species the octopaminergic axon forms beaded fibers where the boutons or varicosities form type II terminals in contrast to the neuromuscular junction (NMJ) or type I terminals. These type II terminals are immunopositive for both tyramine and octopamine and, in contrast to the type I terminals, which possess clear synaptic vesicles, only contain dense core vesicles...
2018: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/29610000/critical-period-of-neuromuscular-development-importance-for-a-new-treatment-of-sma
#20
REVIEW
Gerta Vrbová, Urszula Sławińska
Findings from mice that had their Smn gene deleted and some copies of the human SMN2 gene introduced to produce SMN protein are summarized. Symptoms due to this manipulation can be corrected only by restoring the SMN protein expression in neurones and not in muscle. The changes in muscle and neuromuscular junction (NMJ) in these mutant mice are probably due to the malfunction of the neuronal component of the NMJ i.e. the nerve terminal. The reduction of transmitter release by nerve terminals in animals with reduced SMN protein supports this notion...
March 13, 2018: Neuromuscular Disorders: NMD
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