{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:15:35Z","timestamp":1780467335883,"version":"3.54.1"},"reference-count":69,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:00:00Z","timestamp":1698278400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"The Paul D. Wellstone Muscular Dystrophy Cooperative Research Center","award":["HD-087351"],"award-info":[{"award-number":["HD-087351"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Strokes","doi-asserted-by":"crossref","award":["R01 NS055028"],"award-info":[{"award-number":["R01 NS055028"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in skeletal muscle \u03b1-actin (Acta1) cause myopathies. In a mouse model of congenital myopathy, heterozygous Acta1 (H40Y) knock-in (Acta1+\/Ki) mice exhibit features of human nemaline myopathy, including premature lethality, severe muscle weakness, reduced mobility, and the presence of nemaline rods in muscle fibers. In this study, we investigated the impact of Acta1 (H40Y) mutation on the neuromuscular junction (NMJ). We found that the NMJs were markedly fragmented in Acta1+\/Ki mice. Electrophysiological analysis revealed a decrease in amplitude but increase in frequency of miniature end-plate potential (mEPP) at the NMJs in Acta1+\/Ki mice, compared with those in wild type (Acta1+\/+) mice. Evoked end-plate potential (EPP) remained similar at the NMJs in Acta1+\/Ki and Acta1+\/+ mice, but quantal content was increased at the NMJs in Acta1+\/Ki, compared with Acta1+\/+ mice, suggesting a homeostatic compensation at the NMJs in Acta1+\/Ki mice to maintain normal levels of neurotransmitter release. Furthermore, short-term synaptic plasticity of the NMJs was compromised in Acta1+\/Ki mice. Together, these results demonstrate that skeletal Acta1 H40Y mutation, albeit muscle-origin, leads to both morphological and functional defects at the NMJ.<\/jats:p>","DOI":"10.1093\/hmg\/ddad183","type":"journal-article","created":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T17:39:15Z","timestamp":1698341955000},"page":"233-244","source":"Crossref","is-referenced-by-count":4,"title":["Morphological and functional alterations of neuromuscular synapses in a mouse model of <i>ACTA1<\/i> congenital myopathy"],"prefix":"10.1093","volume":"33","author":[{"given":"Yun","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neuroscience, University of Texas Southwestern Medical Center , 6000 Harry Hines Blvd, Dallas, TX 75390-9111 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6806-3329","authenticated-orcid":false,"given":"Weichun","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Texas Southwestern Medical Center , 6000 Harry Hines Blvd, Dallas, TX 75390-9111 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,10,26]]},"reference":[{"key":"2024012109545312000_ref1","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1002\/cm.20475","article-title":"The actin gene family: function follows isoform","volume":"67","author":"Perrin","year":"2010","journal-title":"Cytoskeleton (Hoboken)"},{"key":"2024012109545312000_ref2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.semcdb.2019.12.003","article-title":"Regulation of actin isoforms in cellular and developmental processes","volume":"102","author":"Kashina","year":"2020","journal-title":"Semin Cell Dev Biol"},{"key":"2024012109545312000_ref3","doi-asserted-by":"crossref","first-page":"5887","DOI":"10.1128\/MCB.22.16.5887-5896.2002","article-title":"Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period","volume":"22","author":"Crawford","year":"2002","journal-title":"Mol Cell Biol"},{"key":"2024012109545312000_ref4","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1038\/13837","article-title":"Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy","volume":"23","author":"Nowak","year":"1999","journal-title":"Nat Genet"},{"key":"2024012109545312000_ref5","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1086\/320605","article-title":"Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene","volume":"68","author":"Ilkovski","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2024012109545312000_ref6","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1016\/S0960-8966(03)00101-9","article-title":"Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)","volume":"13","author":"Sparrow","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"2024012109545312000_ref7","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1002\/ana.20260","article-title":"Actin mutations are one cause of congenital fibre type disproportion","volume":"56","author":"Laing","year":"2004","journal-title":"Ann Neurol"},{"key":"2024012109545312000_ref8","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.nmd.2006.07.018","article-title":"Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)","volume":"16","author":"Wallefeld","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"2024012109545312000_ref9","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.3892\/mmr.2016.5429","article-title":"The de novo missense mutation N117S in skeletal muscle \u03b1-actin 1 causes a mild form of congenital nemaline myopathy","volume":"14","author":"Yang","year":"2016","journal-title":"Mol Med Rep"},{"key":"2024012109545312000_ref10","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/ana.20157","article-title":"Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations","volume":"56","author":"Agrawal","year":"2004","journal-title":"Ann Neurol"},{"key":"2024012109545312000_ref11","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/s00401-012-1019-z","article-title":"Skeletal muscle \u03b1-actin diseases (actinopathies): pathology and mechanisms","volume":"125","author":"Nowak","year":"2013","journal-title":"Acta Neuropathol"},{"key":"2024012109545312000_ref12","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/j.bbadis.2016.04.013","article-title":"Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function","volume":"1862","author":"Chan","year":"2016","journal-title":"Biochim Biophys Acta"},{"key":"2024012109545312000_ref13","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1093\/brain\/awr274","article-title":"Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy","volume":"134","author":"Nguyen","year":"2011","journal-title":"Brain"},{"key":"2024012109545312000_ref14","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1097\/NEN.0b013e318293b1cc","article-title":"Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy","volume":"72","author":"Lindqvist","year":"2013","journal-title":"J Neuropathol Exp Neurol"},{"key":"2024012109545312000_ref15","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1146\/annurev-physiol-022516-034255","article-title":"Neuromuscular junction formation, aging, and disorders","volume":"80","author":"Li","year":"2018","journal-title":"Annu Rev Physiol"},{"key":"2024012109545312000_ref16","doi-asserted-by":"crossref","first-page":"208","DOI":"10.3389\/fnagi.2014.00208","article-title":"The neuromuscular junction: aging at the crossroad between nerves and muscle","volume":"6","author":"Gonzalez-Freire","year":"2014","journal-title":"Front Aging Neurosci"},{"key":"2024012109545312000_ref17","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.exger.2010.08.029","article-title":"Age-associated alterations of the neuromuscular junction","volume":"46","author":"Jang","year":"2011","journal-title":"Exp Gerontol"},{"key":"2024012109545312000_ref18","doi-asserted-by":"crossref","first-page":"99","DOI":"10.3389\/fnagi.2014.00099","article-title":"Degeneration of neuromuscular junction in age and dystrophy","volume":"6","author":"Rudolf","year":"2014","journal-title":"Front Aging Neurosci"},{"key":"2024012109545312000_ref19","doi-asserted-by":"crossref","first-page":"135304","DOI":"10.1016\/j.neulet.2020.135304","article-title":"Alterations of neuromuscular junctions in Duchenne muscular dystrophy","volume":"737","author":"Lovering","year":"2020","journal-title":"Neurosci Lett"},{"key":"2024012109545312000_ref20","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1111\/ejn.13249","article-title":"Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models","volume":"43","author":"Pijl","year":"2016","journal-title":"Eur J Neurosci"},{"key":"2024012109545312000_ref21","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1460-9592.2008.02411.x","article-title":"C Histomorphology of neuromuscular junction in Duchenne muscular dystrophy","volume":"18","author":"Theroux","year":"2008","journal-title":"Paediatr Anaesth"},{"key":"2024012109545312000_ref22","doi-asserted-by":"crossref","first-page":"3663","DOI":"10.1523\/JNEUROSCI.20-10-03663.2000","article-title":"From plaque to pretzel: fold formation and acetylcholine receptor loss at the developing neuromuscular junction","volume":"20","author":"Marques","year":"2000","journal-title":"J Neurosci"},{"key":"2024012109545312000_ref23","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1146\/annurev.neuro.22.1.389","article-title":"Development of the vertebrate neuromuscular junction","volume":"22","author":"Sanes","year":"1999","journal-title":"Annu Rev Neurosci"},{"key":"2024012109545312000_ref24","doi-asserted-by":"crossref","first-page":"252","DOI":"10.3389\/fphys.2015.00252","article-title":"Pre- and postsynaptic changes in the neuromuscular junction in dystrophic mice","volume":"6","author":"Pratt","year":"2015","journal-title":"Front Physiol"},{"key":"2024012109545312000_ref25","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.neuron.2007.07.028","article-title":"ETS transcription factor Erm controls subsynaptic gene expression in skeletal muscles","volume":"55","author":"Hippenmeyer","year":"2007","journal-title":"Neuron"},{"key":"2024012109545312000_ref26","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0896-6273(01)00353-1","article-title":"Targeting transcription to the neuromuscular synapse","volume":"31","author":"Schaeffer","year":"2001","journal-title":"Neuron"},{"key":"2024012109545312000_ref27","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1113\/jphysiol.1983.sp014721","article-title":"Neuromuscular transmission and correlative morphology in young and old mice","volume":"339","author":"Banker","year":"1983","journal-title":"J Physiol"},{"key":"2024012109545312000_ref28","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.neuron.2017.02.047","article-title":"The mechanisms and functions of synaptic facilitation","volume":"94","author":"Jackman","year":"2017","journal-title":"Neuron"},{"key":"2024012109545312000_ref29","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1146\/annurev.physiol.64.092501.114547","article-title":"Short-term synaptic plasticity","volume":"64","author":"Zucker","year":"2002","journal-title":"Annu Rev Physiol"},{"key":"2024012109545312000_ref30","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1002\/(SICI)1097-4598(199807)21:7<887::AID-MUS6>3.0.CO;2-2","article-title":"Age-related remodeling of neuromuscular junctions on type-identified diaphragm fibers","volume":"21","author":"Prakash","year":"1998","journal-title":"Muscle Nerve"},{"key":"2024012109545312000_ref31","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1113\/jphysiol.1979.sp013003","article-title":"The relationship between end-plate size and transmitter release in normal and dystrophic muscles of the mouse","volume":"296","author":"Harris","year":"1979","journal-title":"J Physiol"},{"key":"2024012109545312000_ref32","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1093\/hmg\/ddac041","article-title":"Distinct roles of the dystrophin-glycoprotein complex: \u03b1-dystrobrevin and \u03b1-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapse","volume":"31","author":"Valenzuela","year":"2022","journal-title":"Hum Mol Genet"},{"key":"2024012109545312000_ref33","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1007\/BF01187915","article-title":"Structure and function of the neuromuscular junction in young adult mdx mice","volume":"20","author":"Lyons","year":"1991","journal-title":"J Neurocytol"},{"key":"2024012109545312000_ref34","doi-asserted-by":"crossref","first-page":"e0205926","DOI":"10.1371\/journal.pone.0205926","article-title":"Cycles of myofiber degeneration and regeneration lead to remodeling of the neuromuscular junction in two mammalian models of Duchenne muscular dystrophy","volume":"13","author":"Haddix","year":"2018","journal-title":"PLoS One"},{"key":"2024012109545312000_ref35","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.neuroscience.2019.05.017","article-title":"'Fragmentation' of NMJs: a sign of degeneration or regeneration? A long journey with many junctions","volume":"439","author":"Slater","year":"2020","journal-title":"Neuroscience"},{"key":"2024012109545312000_ref36","doi-asserted-by":"crossref","first-page":"14910","DOI":"10.1523\/JNEUROSCI.3590-11.2011","article-title":"Changes in aging mouse neuromuscular junctions are explained by degeneration and regeneration of muscle fiber segments at the synapse","volume":"31","author":"Li","year":"2011","journal-title":"J Neurosci"},{"key":"2024012109545312000_ref37","doi-asserted-by":"crossref","first-page":"13191","DOI":"10.1523\/JNEUROSCI.2953-11.2011","article-title":"Nerve terminal growth remodels neuromuscular synapses in mice following regeneration of the postsynaptic muscle fiber","volume":"31","author":"Li","year":"2011","journal-title":"J Neurosci"},{"key":"2024012109545312000_ref38","doi-asserted-by":"crossref","first-page":"134833","DOI":"10.1016\/j.neulet.2020.134833","article-title":"The role of the dystrophin glycoprotein complex on the neuromuscular system","volume":"722","author":"Belhasan","year":"2020","journal-title":"Neurosci Lett"},{"key":"2024012109545312000_ref39","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.tins.2012.04.005","article-title":"Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction","volume":"35","author":"Shi","year":"2012","journal-title":"Trends Neurosci"},{"key":"2024012109545312000_ref40","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1023\/B:NEUR.0000020619.24681.2b","article-title":"The postsynaptic submembrane machinery at the neuromuscular junction: requirement for rapsyn and the utrophin\/dystrophin-associated complex","volume":"32","author":"Banks","year":"2003","journal-title":"J Neurocytol"},{"key":"2024012109545312000_ref41","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00401-019-02034-8","article-title":"Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy","volume":"138","author":"Ross","year":"2019","journal-title":"Acta Neuropathol"},{"key":"2024012109545312000_ref42","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1152\/physrev.00031.2010","article-title":"Fiber types in mammalian skeletal muscles","volume":"91","author":"Schiaffino","year":"2011","journal-title":"Physiol Rev"},{"key":"2024012109545312000_ref43","doi-asserted-by":"crossref","first-page":"e34640","DOI":"10.1371\/journal.pone.0034640","article-title":"Shared resistance to aging and ALS in neuromuscular junctions of specific muscles","volume":"7","author":"Valdez","year":"2012","journal-title":"PLoS One"},{"key":"2024012109545312000_ref44","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0092-8674(88)90463-1","article-title":"Fast muscle fibers are preferentially affected in Duchenne muscular dystrophy","volume":"52","author":"Webster","year":"1988","journal-title":"Cell"},{"key":"2024012109545312000_ref45","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/j.neuron.2013.09.044","article-title":"Homeostatic signaling and the stabilization of neural function","volume":"80","author":"Davis","year":"2013","journal-title":"Neuron"},{"key":"2024012109545312000_ref46","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1146\/annurev-physiol-021014-071740","article-title":"Homeostatic control of presynaptic neurotransmitter release","volume":"77","author":"Davis","year":"2015","journal-title":"Annu Rev Physiol"},{"key":"2024012109545312000_ref47","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1002\/mus.22177","article-title":"Endplate contributions to the safety factor for neuromuscular transmission","volume":"44","author":"Ruff","year":"2011","journal-title":"Muscle Nerve"},{"key":"2024012109545312000_ref48","doi-asserted-by":"crossref","first-page":"24849","DOI":"10.1038\/srep24849","article-title":"Age-related fragmentation of the motor endplate is not associated with impaired neuromuscular transmission in the mouse diaphragm","volume":"6","author":"Willadt","year":"2016","journal-title":"Sci Rep"},{"key":"2024012109545312000_ref49","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.expneurol.2015.01.007","article-title":"Electrophysiological analysis of neuromuscular synaptic function in myasthenia gravis patients and animal models","volume":"270","author":"Plomp","year":"2015","journal-title":"Exp Neurol"},{"key":"2024012109545312000_ref50","doi-asserted-by":"crossref","first-page":"e13690","DOI":"10.1111\/apha.13690","article-title":"Chloride channel inhibition improves neuromuscular function under conditions mimicking neuromuscular disorders","volume":"233","author":"Pedersen","year":"2021","journal-title":"Acta Physiol (Oxf)"},{"key":"2024012109545312000_ref51","doi-asserted-by":"crossref","first-page":"5739","DOI":"10.1113\/jphysiol.2009.179275","article-title":"Extracellular ATP inhibits chloride channels in mature mammalian skeletal muscle by activating P2Y1 receptors","volume":"587","author":"Voss","year":"2009","journal-title":"J Physiol"},{"key":"2024012109545312000_ref52","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1242\/dev.018119","article-title":"Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning","volume":"135","author":"Liu","year":"2008","journal-title":"Development"},{"key":"2024012109545312000_ref53","doi-asserted-by":"crossref","first-page":"14863","DOI":"10.1073\/pnas.1002220107","article-title":"Attenuation of age-related changes in mouse neuromuscular synapses by caloric restriction and exercise","volume":"107","author":"Valdez","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024012109545312000_ref54","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.160240","article-title":"NMJ-morph reveals principal components of synaptic morphology influencing structure-function relationships at the neuromuscular junction","volume":"6","author":"Jones","year":"2016","journal-title":"Open Biol"},{"key":"2024012109545312000_ref55","doi-asserted-by":"crossref","first-page":"3891","DOI":"10.1016\/j.celrep.2018.05.085","article-title":"Calcium influx and release cooperatively regulate AChR patterning and motor axon outgrowth during neuromuscular junction formation","volume":"23","author":"Kaplan","year":"2018","journal-title":"Cell Rep"},{"key":"2024012109545312000_ref56","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1083\/jcb.201810023","article-title":"MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses","volume":"218","author":"Oury","year":"2019","journal-title":"J Cell Biol"},{"key":"2024012109545312000_ref57","doi-asserted-by":"crossref","first-page":"4359","DOI":"10.1073\/pnas.0500711102","article-title":"Syne proteins anchor muscle nuclei at the neuromuscular junction","volume":"102","author":"Grady","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024012109545312000_ref58","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1523\/JNEUROSCI.2992-16.2016","article-title":"Muscle fibers secrete FGFBP1 to slow degeneration of neuromuscular synapses during aging and progression of ALS","volume":"37","author":"Taetzsch","year":"2017","journal-title":"J Neurosci"},{"key":"2024012109545312000_ref59","doi-asserted-by":"crossref","first-page":"16977","DOI":"10.1073\/pnas.0601565103","article-title":"Activity-dependent gene regulation in skeletal muscle is mediated by a histone deacetylase (HDAC)-Dach2-myogenin signal transduction cascade","volume":"103","author":"Tang","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024012109545312000_ref60","doi-asserted-by":"crossref","first-page":"5941","DOI":"10.4049\/jimmunol.174.10.5941","article-title":"Effects of cytokines on acetylcholine receptor expression: implications for myasthenia gravis","volume":"174","author":"Poea-Guyon","year":"2005","journal-title":"J Immunol"},{"key":"2024012109545312000_ref61","doi-asserted-by":"crossref","first-page":"21668","DOI":"10.1074\/jbc.M709939200","article-title":"Wnt\/beta-catenin signaling suppresses Rapsyn expression and inhibits acetylcholine receptor clustering at the neuromuscular junction","volume":"283","author":"Wang","year":"2008","journal-title":"J Biol Chem"},{"key":"2024012109545312000_ref62","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1113\/jphysiol.2010.201939","article-title":"The role of Synaptobrevin1\/VAMP1 in Ca2+\u2212triggered neurotransmitter release at the mouse neuromuscular junction","volume":"589","author":"Liu","year":"2011","journal-title":"J Physiol"},{"key":"2024012109545312000_ref63","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/S0301-0082(00)00055-1","article-title":"Safety factor at the neuromuscular junction","volume":"64","author":"Wood","year":"2001","journal-title":"Prog Neurobiol"},{"key":"2024012109545312000_ref64","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1523\/JNEUROSCI.2011-10.2011","article-title":"Increased neurotransmitter release at the neuromuscular junction in a mouse model of polyglutamine disease","volume":"31","author":"Rozas","year":"2011","journal-title":"J Neurosci"},{"key":"2024012109545312000_ref65","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1113\/jphysiol.1981.sp013586","article-title":"Non-linear summation of end-plate potentials in the frog and mouse","volume":"311","author":"McLachlan","year":"1981","journal-title":"J Physiol"},{"key":"2024012109545312000_ref66","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0022-5193(76)80031-8","article-title":"The effect of membrane capacitance on non-linear summation of synaptic potentials","volume":"59","author":"Martin","year":"1976","journal-title":"J Theor Biol"},{"key":"2024012109545312000_ref67","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1113\/jphysiol.1972.sp009839","article-title":"The effect of voltage on the time course of end-plate currents","volume":"223","author":"Magleby","year":"1972","journal-title":"J Physiol"},{"key":"2024012109545312000_ref68","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1113\/jphysiol.1972.sp009840","article-title":"A quantitative description of end-plate currents","volume":"223","author":"Magleby","year":"1972","journal-title":"J Physiol"},{"key":"2024012109545312000_ref69","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1113\/jphysiol.1956.sp005503","article-title":"The end-plate potential in mammalian muscle","volume":"132","author":"Boyd","year":"1956","journal-title":"J Physiol"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddad183\/53343979\/ddad183.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/3\/233\/56290047\/ddad183.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/3\/233\/56290047\/ddad183.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,21]],"date-time":"2024-01-21T09:55:20Z","timestamp":1705830920000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/33\/3\/233\/7330549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,26]]},"references-count":69,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,10,26]]},"published-print":{"date-parts":[[2024,1,20]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddad183","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,2,1]]},"published":{"date-parts":[[2023,10,26]]}}}