{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:37:37Z","timestamp":1791329857974,"version":"4.3.1"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,7,15]]},"DOI":"10.1093\/hmg\/ddt145","type":"journal-article","created":{"date-parts":[[2013,4,9]],"date-time":"2013-04-09T00:26:01Z","timestamp":1365467161000},"page":"2905-2913","source":"Crossref","is-referenced-by-count":61,"title":["Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR"],"prefix":"10.1093","volume":"22","author":[{"given":"Katarzyna","family":"Zoltowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Finlayson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Maxwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Cossins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,4,8]]},"reference":[{"key":"key\n\t\t\t\t20170522145126_DDT145C1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.pediatrneurol.2011.12.001","article-title":"Congenital myasthenic syndrome: a brief review","volume":"46","author":"Lorenzoni","year":"2012","journal-title":"Pediatr. Neurol."},{"key":"key\n\t\t\t\t20170522145126_DDT145C2","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.nmd.2011.10.009","article-title":"Current status of the congenital myasthenic syndromes","volume":"22","author":"Engel","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"key\n\t\t\t\t20170522145126_DDT145C3","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ajhg.2011.01.008","article-title":"Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect","volume":"88","author":"Senderek","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522145126_DDT145C4","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2012.05.022","article-title":"Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates","volume":"91","author":"Belaya","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522145126_DDT145C5","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1007\/s00415-011-6262-z","article-title":"Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations","volume":"259","author":"Guergueltcheva","year":"2012","journal-title":"J. Neurol."},{"key":"key\n\t\t\t\t20170522145126_DDT145C6","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0167-4838(02)00318-7","article-title":"Glucosamine-6-phosphate synthase\u2014the multi-facets enzyme","volume":"1597","author":"Milewski","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170522145126_DDT145C7","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.2337\/diabetes.50.11.2419","article-title":"A novel variant of glutamine: fructose-6-phosphate amidotransferase-1 (GFAT1) mRNA is selectively expressed in striated muscle","volume":"50","author":"DeHaven","year":"2001","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20170522145126_DDT145C8","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1007\/s100380170022","article-title":"Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle","volume":"46","author":"Niimi","year":"2001","journal-title":"J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522145126_DDT145C9","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/mus.20440","article-title":"Molecular architecture of the neuromuscular junction","volume":"33","author":"Hughes","year":"2006","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522145126_DDT145C10","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/0896-6273(95)90218-X","article-title":"Role for a synapse-specific carbohydrate in agrin-induced clustering of acetylcholine receptors","volume":"14","author":"Martin","year":"1995","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522145126_DDT145C11","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1023\/B:NEUR.0000020632.41508.83","article-title":"Glycobiology of the neuromuscular junction","volume":"32","author":"Martin","year":"2003","journal-title":"J Neurocytol."},{"key":"key\n\t\t\t\t20170522145126_DDT145C12","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1002\/j.1460-2075.1990.tb07378.x","article-title":"The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon","volume":"9","author":"Beeson","year":"1990","journal-title":"EMBO J."},{"issue":"Pt 3","key":"key\n\t\t\t\t20170522145126_DDT145C13","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1113\/jphysiol.1995.sp021090","article-title":"Functional and non-functional isoforms of the human muscle acetylcholine receptor","volume":"489","author":"Newland","year":"1995","journal-title":"J. Physiol."},{"key":"key\n\t\t\t\t20170522145126_DDT145C14","doi-asserted-by":"crossref","first-page":"3557","DOI":"10.1111\/j.1742-4658.2006.05363.x","article-title":"Expression and characterization of soluble forms of the extracellular domains of the beta, gamma and epsilon subunits of the human muscle acetylcholine receptor","volume":"273","author":"Kostelidou","year":"2006","journal-title":"FEBS J."},{"key":"key\n\t\t\t\t20170522145126_DDT145C15","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1432-1033.1986.tb09661.x","article-title":"Carbohydrate structures of acetylcholine receptor from Torpedo californica and distribution of oligosaccharides among the subunits","volume":"157","author":"Nomoto","year":"1986","journal-title":"Eur. J. Biochem."},{"key":"key\n\t\t\t\t20170522145126_DDT145C16","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0169-328X(91)90016-Q","article-title":"Site-directed mutagenesis of the conserved N-glycosylation site on the nicotinic acetylcholine receptor subunits","volume":"11","author":"Gehle","year":"1991","journal-title":"Brain Res. Mol. Brain Res."},{"key":"key\n\t\t\t\t20170522145126_DDT145C17","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1083\/jcb.111.6.2613","article-title":"Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly","volume":"111","author":"Blount","year":"1990","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522145126_DDT145C18","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF01869456","article-title":"Altered patterns of N-linked glycosylation of the Torpedo acetylcholine receptor expressed in Xenopus oocytes","volume":"115","author":"Buller","year":"1990","journal-title":"J Membr. Biol."},{"key":"key\n\t\t\t\t20170522145126_DDT145C19","doi-asserted-by":"crossref","first-page":"14825","DOI":"10.1016\/S0021-9258(18)66946-7","article-title":"The effects of inhibiting oligosaccharide trimming by 1-deoxynojirimycin on the nicotinic acetylcholine receptor","volume":"261","author":"Smith","year":"1986","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145126_DDT145C20","doi-asserted-by":"crossref","first-page":"2694","DOI":"10.1016\/S0021-9258(18)34979-2","article-title":"Inhibition of glycosylation with tunicamycin blocks assembly of newly synthesized acetylcholine receptor subunits in muscle cells","volume":"257","author":"Merlie","year":"1982","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145126_DDT145C21","doi-asserted-by":"crossref","first-page":"20513","DOI":"10.1074\/jbc.274.29.20513","article-title":"Altered glycosylation sites of the delta subunit of the acetylcholine receptor (AChR) reduce alpha delta association and receptor assembly","volume":"274","author":"Ramanathan","year":"1999","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145126_DDT145C22","doi-asserted-by":"crossref","first-page":"33800","DOI":"10.1074\/jbc.M501813200","article-title":"N-Linked glycosylation is required for nicotinic receptor assembly but not for subunit associations with calnexin","volume":"280","author":"Wanamaker","year":"2005","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145126_DDT145C23","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/S0169-328X(96)00256-2","article-title":"N-Glycosylation at the conserved sites ensures the expression of properly folded functional ACh receptors","volume":"45","author":"Gehle","year":"1997","journal-title":"Brain Res. Mol. Brain Res."},{"key":"key\n\t\t\t\t20170522145126_DDT145C24","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/0169-328X(89)90034-X","article-title":"Assembly and N-glycosylation of all ACh receptor subunits are required for their efficient insertion into plasma membranes","volume":"5","author":"Sumikawa","year":"1989","journal-title":"Brain Res. Mol. Brain Res."},{"key":"key\n\t\t\t\t20170522145126_DDT145C25","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1016\/S0021-9258(18)33054-0","article-title":"Effect of tunicamycin, an inhibitor of protein glycosylation, on the biological properties of acetylcholine receptor in cultured muscle cells","volume":"258","author":"Prives","year":"1983","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522145126_DDT145C26","doi-asserted-by":"crossref","first-page":"477","DOI":"10.2174\/138945009788488369","article-title":"Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1)","volume":"10","author":"Bretthauer","year":"2009","journal-title":"Curr. Drug Targets"},{"key":"key\n\t\t\t\t20170522145126_DDT145C27","doi-asserted-by":"crossref","first-page":"5263","DOI":"10.1073\/pnas.77.9.5263","article-title":"Carbohydrate requirement for expression and stability of acetylcholine receptor on the surface of embryonic muscle cells in culture","volume":"77","author":"Prives","year":"1980","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522145126_DDT145C28","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/S0014-5793(03)00641-0","article-title":"O-GlcNAc turns twenty: functional implications for post-translational modification of nuclear and cytosolic proteins with a sugar","volume":"546","author":"Wells","year":"2003","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522145126_DDT145C29","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1523\/JNEUROSCI.09-03-01082.1989","article-title":"A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671","volume":"9","author":"Luther","year":"1989","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522145126_DDT145C30","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/0014-5793(88)81430-3","article-title":"The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA","volume":"226","author":"Schoepfer","year":"1988","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522145126_DDT145C31","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/0304-3940(96)12488-5","article-title":"Stable functional expression of the adult subtype of human muscle acetylcholine receptor following transfection of the human rhabdomyosarcoma cell line TE671 with cDNA encoding the epsilon subunit","volume":"207","author":"Beeson","year":"1996","journal-title":"Neurosci. Lett."},{"key":"key\n\t\t\t\t20170522145126_DDT145C32","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF00656997","article-title":"Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches","volume":"391","author":"Hamill","year":"1981","journal-title":"Pflugers Arch."},{"key":"key\n\t\t\t\t20170522145126_DDT145C33","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1212\/01.WNL.0000118205.99701.41","article-title":"Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome","volume":"62","author":"Webster","year":"2004","journal-title":"Neurology"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/14\/2905\/17259816\/ddt145.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,13]],"date-time":"2022-02-13T09:40:48Z","timestamp":1644745248000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,8]]},"references-count":33,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2013,4,8]]},"published-print":{"date-parts":[[2013,7,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt145","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4,8]]}}}