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Most important junctional BL proteins are collagens, such as collagen IV (\u03b13\u20136), collagen XIII, and ColQ; laminins; nidogens; and heparan sulfate proteoglycans, such as perlecan and agrin. Mice lacking Colq (<jats:italic>Colq<jats:sup>\u2212\/\u2212<\/jats:sup><\/jats:italic>), laminin \u03b22 (<jats:italic>Lamb2<jats:sup>\u2212\/\u2212<\/jats:sup><\/jats:italic>), or collagen XIII (<jats:italic>Col13a1<jats:sup>\u2212\/\u2212<\/jats:sup><\/jats:italic>) show immature nerve terminals enwrapped by Schwann cell projections that invaginate into the synaptic cleft and decrease contact surface for neurotransmission. Human mutations in <jats:italic>COLQ<\/jats:italic>, <jats:italic>LAMB2,<\/jats:italic> and <jats:italic>AGRN<\/jats:italic> cause congenital myasthenic syndromes (CMSs) owing to deficiency of ColQ, laminin\u2010\u03b22, and agrin, respectively. In these syndromes the NMJ ultrastructure shows striking resemblance to that of mice lacking the corresponding protein; furthermore, the extracellular localization of mutant proteins may provide favorable conditions for replacement strategies based on gene therapy and stem cells.<\/jats:p>","DOI":"10.1111\/j.1749-6632.2012.06807.x","type":"journal-article","created":{"date-parts":[[2012,12,22]],"date-time":"2012-12-22T03:28:36Z","timestamp":1356146916000},"page":"36-48","source":"Crossref","is-referenced-by-count":27,"title":["Synaptic basal lamina\u2013associated congenital myasthenic syndromes"],"prefix":"10.1111","volume":"1275","author":[{"given":"Ricardo A.","family":"Maselli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Arredondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Ferns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert L.","family":"Wollmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,20]]},"reference":[{"key":"e_1_2_16_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(200006)218:2<213::AID-DVDY1>3.0.CO;2-R"},{"key":"e_1_2_16_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R200027200"},{"key":"e_1_2_16_4_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R300005200"},{"key":"e_1_2_16_5_2","doi-asserted-by":"publisher","DOI":"10.2174\/138161209787846766"},{"key":"e_1_2_16_6_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.111.4.1685"},{"key":"e_1_2_16_7_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.127.3.879"},{"key":"e_1_2_16_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.02.035"},{"key":"e_1_2_16_9_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.25.15590"},{"key":"e_1_2_16_10_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00736.x"},{"key":"e_1_2_16_11_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.12.8936"},{"key":"e_1_2_16_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0928-4257(98)80007-7"},{"key":"e_1_2_16_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cbi.2008.05.025"},{"key":"e_1_2_16_14_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.139.6.1507"},{"key":"e_1_2_16_15_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02270"},{"key":"e_1_2_16_16_2","first-page":"3","article-title":"A synaptic nidogen: developmental regulation and role of nidogen\u20102 at the neuromuscular junction","volume":"25","author":"Fox M.A.","year":"2008","journal-title":"Neural. 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