{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:45:29Z","timestamp":1773272729432,"version":"3.50.1"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,2,15]]},"DOI":"10.1093\/hmg\/dds483","type":"journal-article","created":{"date-parts":[[2012,12,8]],"date-time":"2012-12-08T07:43:31Z","timestamp":1354952611000},"page":"757-768","source":"Crossref","is-referenced-by-count":16,"title":["Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice"],"prefix":"10.1093","volume":"22","author":[{"given":"Jessica D.","family":"Gumerson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol S.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhyldyz T.","family":"Kabaeva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Hayes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan V.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel E.","family":"Michele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2012,12,6]]},"reference":[{"key":"key\n\t\t\t\t20170522134656_DDS483C1","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20170522134656_DDS483C2","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.spen.2005.10.003","article-title":"The dystroglycanopathies: the new disorders of O-linked glycosylation","volume":"12","author":"Martin","year":"2005","journal-title":"Semin. Pediatr. Neurol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C3","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/355696a0","article-title":"Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix","volume":"355","author":"Ibraghimov-Beskrovnaya","year":"1992","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522134656_DDS483C4","doi-asserted-by":"crossref","first-page":"6457","DOI":"10.1073\/pnas.84.18.6457","article-title":"Cranin: a laminin-binding protein of cell membranes","volume":"84","author":"Smalheiser","year":"1987","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522134656_DDS483C5","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1083\/jcb.122.4.809","article-title":"A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin","volume":"122","author":"Ervasti","year":"1993","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C6","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/0092-8674(94)90052-3","article-title":"Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor","volume":"77","author":"Gee","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522134656_DDS483C7","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1083\/jcb.200105003","article-title":"A stoichiometric complex of neurexins and dystroglycan in brain","volume":"154","author":"Sugita","year":"2001","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C8","doi-asserted-by":"crossref","first-page":"15457","DOI":"10.1074\/jbc.R200031200","article-title":"Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function","volume":"278","author":"Michele","year":"2003","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134656_DDS483C9","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nature00837","article-title":"Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies","volume":"418","author":"Michele","year":"2002","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522134656_DDS483C10","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1097\/00019052-200404000-00020","article-title":"Defective glycosylation in congenital muscular dystrophies","volume":"17","author":"Muntoni","year":"2004","journal-title":"Curr. Opin. Neurol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C11","doi-asserted-by":"crossref","first-page":"12573","DOI":"10.1073\/pnas.0906545106","article-title":"Basal lamina strengthens cell membrane integrity via the laminin G domain-binding motif of alpha-dystroglycan","volume":"106","author":"Han","year":"2009","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522134656_DDS483C12","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1093\/hmg\/6.6.831","article-title":"Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice","volume":"6","author":"Williamson","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C13","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/0014-5793(93)80695-Q","article-title":"Differential expression of dystrophin, utrophin and dystrophin-associated proteins in peripheral nerve","volume":"334","author":"Matsumura","year":"1993","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522134656_DDS483C14","doi-asserted-by":"crossref","first-page":"8240","DOI":"10.1074\/jbc.274.12.8240","article-title":"Characterization of the transmembrane molecular architecture of the dystroglycan complex in Schwann cells","volume":"274","author":"Saito","year":"1999","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134656_DDS483C15","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0014-5793(94)00917-1","article-title":"Dystroglycan is a binding protein of laminin and merosin in peripheral nerve","volume":"352","author":"Yamada","year":"1994","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522134656_DDS483C16","doi-asserted-by":"crossref","first-page":"23418","DOI":"10.1074\/jbc.271.38.23418","article-title":"Dystroglycan is a dual receptor for agrin and laminin-2 in Schwann cell membrane","volume":"271","author":"Yamada","year":"1996","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134656_DDS483C17","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0896-6273(03)00301-5","article-title":"Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization","volume":"38","author":"Saito","year":"2003","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522134656_DDS483C18","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/15519","article-title":"Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses","volume":"23","author":"Cote","year":"1999","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C19","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/S0896-6273(00)80096-3","article-title":"Alternative splicing of agrin alters its binding to heparin, dystroglycan, and the putative agrin receptor","volume":"16","author":"Gesemann","year":"1996","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522134656_DDS483C20","doi-asserted-by":"crossref","first-page":"5231","DOI":"10.1074\/jbc.271.9.5231","article-title":"Agrin binding to alpha-dystroglycan. Domains of agrin necessary to induce acetylcholine receptor clustering are overlapping but not identical to the alpha-dystroglycan-binding region","volume":"271","author":"Hopf","year":"1996","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134656_DDS483C21","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1083\/jcb.152.3.435","article-title":"The dystroglycan complex is necessary for stabilization of acetylcholine receptor clusters at neuromuscular junctions and formation of the synaptic basement membrane","volume":"152","author":"Jacobson","year":"2001","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C22","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/S0896-6273(00)80894-6","article-title":"Maturation and maintenance of the neuromuscular synapse: genetic evidence for roles of the dystrophin\u2013glycoprotein complex","volume":"25","author":"Grady","year":"2000","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522134656_DDS483C23","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/88865","article-title":"Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse","volume":"28","author":"Grewal","year":"2001","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C24","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1093\/hmg\/11.21.2673","article-title":"Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle\u2013eye\u2013brain disorders","volume":"11","author":"Holzfeind","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C25","doi-asserted-by":"crossref","first-page":"2853","DOI":"10.1093\/hmg\/ddg307","article-title":"Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan","volume":"12","author":"Longman","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C26","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s00439-007-0362-y","article-title":"Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome","volume":"121","author":"van Reeuwijk","year":"2007","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C27","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.mcn.2004.12.007","article-title":"Disruption of the mouse Large gene in the enr and myd mutants results in nerve, muscle, and neuromuscular junction defects","volume":"28","author":"Levedakou","year":"2005","journal-title":"Mol. Cell. Neurosci."},{"key":"key\n\t\t\t\t20170522134656_DDS483C28","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.nmd.2009.02.011","article-title":"Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice","volume":"19","author":"Herbst","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"key\n\t\t\t\t20170522134656_DDS483C29","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/nm1059","article-title":"LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies","volume":"10","author":"Barresi","year":"2004","journal-title":"Nat. Med."},{"key":"key\n\t\t\t\t20170522134656_DDS483C30","doi-asserted-by":"crossref","first-page":"C1430","DOI":"10.1152\/ajpcell.00192.2010","article-title":"Soleus muscle in glycosylation-deficient muscular dystrophy is protected from contraction-induced injury","volume":"299","author":"Gumerson","year":"2010","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C31","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1523\/JNEUROSCI.14-01-00198.1994","article-title":"Autosomal recessive neuromuscular disorder in a transgenic line of mice","volume":"14","author":"Kelly","year":"1994","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522134656_DDS483C32","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ana.21482","article-title":"Brain involvement in muscular dystrophies with defective dystroglycan glycosylation","volume":"64","author":"Clement","year":"2008","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C33","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome","volume":"42","author":"van Reeuwijk","year":"2005","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C34","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/342975","article-title":"Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome","volume":"71","author":"Beltran-Valero de Bernabe","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C35","doi-asserted-by":"crossref","first-page":"3346","DOI":"10.1093\/hmg\/ddr240","article-title":"Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function","volume":"20","author":"Kabaeva","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522134656_DDS483C36","doi-asserted-by":"crossref","first-page":"11321","DOI":"10.1074\/jbc.273.18.11321","article-title":"Evidence for in situ and in vitro association between beta-dystroglycan and the subsynaptic 43K rapsyn protein. Consequence for acetylcholine receptor clustering at the synapse","volume":"273","author":"Cartaud","year":"1998","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522134656_DDS483C37","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/0022-510X(75)90144-6","article-title":"Neural abnormalities in the dystrophic mouse","volume":"25","author":"Bradley","year":"1975","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170522134656_DDS483C38","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1523\/JNEUROSCI.5225-04.2005","article-title":"Impeded interaction between Schwann cells and axons in the absence of laminin alpha4","volume":"25","author":"Wallquist","year":"2005","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522134656_DDS483C39","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1083\/jcb.200411158","article-title":"Coordinate control of axon defasciculation and myelination by laminin-2 and -8","volume":"168","author":"Yang","year":"2005","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C40","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1080\/14734220500358351","article-title":"Neuronal migration defects in cerebellum of the Largemyd mouse are associated with disruptions in Bergmann glia organization and delayed migration of granule neurons","volume":"4","author":"Qu","year":"2005","journal-title":"Cerebellum"},{"key":"key\n\t\t\t\t20170522134656_DDS483C41","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/nrn1727","article-title":"Functions and mechanisms of retrograde neurotrophin signalling","volume":"6","author":"Zweifel","year":"2005","journal-title":"Nat. Rev. Neurosci."},{"key":"key\n\t\t\t\t20170522134656_DDS483C42","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/0896-6273(90)90089-X","article-title":"NT-3, BDNF, and NGF in the developing rat nervous system: parallel as well as reciprocal patterns of expression","volume":"5","author":"Maisonpierre","year":"1990","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522134656_DDS483C43","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/0896-6273(93)90326-M","article-title":"Evidence that brain-derived neurotrophic factor is a trophic factor for motor neurons in vivo","volume":"10","author":"Koliatsos","year":"1993","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522134656_DDS483C44","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1126\/science.7973664","article-title":"GDNF: a potent survival factor for motoneurons present in peripheral nerve and muscle","volume":"266","author":"Henderson","year":"1994","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522134656_DDS483C45","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1126\/science.7770776","article-title":"Muscle-derived neurotrophin-4 as an activity-dependent trophic signal for adult motor neurons","volume":"268","author":"Funakoshi","year":"1995","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522134656_DDS483C46","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0168-0102(03)00010-5","article-title":"Quantitative analyses of expression of GDNF and neurotrophins during postnatal development in rat skeletal muscles","volume":"45","author":"Nagano","year":"2003","journal-title":"Neurosci. Res."},{"key":"key\n\t\t\t\t20170522134656_DDS483C47","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/363266a0","article-title":"Neurotrophins promote motor neuron survival and are present in embryonic limb bud","volume":"363","author":"Henderson","year":"1993","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522134656_DDS483C48","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1016\/j.neuroscience.2009.04.028","article-title":"Nerve growth factor and its receptors TrkA and p75 are upregulated in the brain of mdx dystrophic mouse","volume":"161","author":"Nico","year":"2009","journal-title":"Neuroscience"},{"key":"key\n\t\t\t\t20170522134656_DDS483C49","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/mus.10332","article-title":"Nerve growth factor expression in human dystrophic muscles","volume":"27","author":"Toti","year":"2003","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522134656_DDS483C50","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1083\/jcb.201107083","article-title":"Neuregulin\/ErbB regulate neuromuscular junction development by phosphorylation of alpha-dystrobrevin","volume":"195","author":"Schmidt","year":"2011","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522134656_DDS483C51","article-title":"A simple composite phenotype scoring system for evaluating mouse models of cerebellar ataxia","volume":"39","author":"Guyenet","year":"2010","journal-title":"J. Vis. Exp"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/4\/757\/13930780\/dds483.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T20:40:12Z","timestamp":1643834412000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/dds483"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,6]]},"references-count":51,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2012,12,6]]},"published-print":{"date-parts":[[2013,2,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/dds483","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12,6]]}}}