| 1 | CSNK2A1, DOK7, RAC1, RAPSN, YWHAG
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| Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two.
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| Herrmann D, Straubinger M, Hashemolhosseini S.
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| J Biol Chem 290(37):22370-84. doi: 10.1074/jbc.M115.647610. Epub 2015 Jul 21.
2015
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| 2 | CMSP, RAPSN
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| Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
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| Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG.
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| Neurology 73(3):228-35.
2009
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| 3 | RAPSN, MPTLT2, CHRNA1, CHRNB1, CHRND
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| Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
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| Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER.
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| Am J Hum Genet 82(1):222-7. 2008
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| 4 | RAPSN
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| Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear.
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| Osman AA, Schrader AD, Hawkes AJ, Akil O, Bergeron A, Lustig LR, Simmons DD.
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| Mol Cell Neurosci 38(2):153-69. Epub 2008 Mar 4.
2008
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| 5 | ACTN2, RAPSN
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| alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering.
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| Dobbins GC, Luo S, Yang Z, Xiong WC, Mei L.
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| Mol Brain 1:18.
2008
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| 6 | CMSP,RAPSN
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| Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
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| Maselli RA, Dris H, Schnier J, Cockrell JL, Wollmann RL.
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| Clin Genet 72(1):63-5. No abstract available. 2007
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| 7 | RAPSN, CMSP
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| Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
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| MŸller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, MŸller-Felber W, Abicht A, LochmŸller H.
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| Neurology 67(7):1159-64. Epub 2006 Aug 23. 2006
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| 8 | RAPSN, CMSP
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| A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
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| Muller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmuller H.
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| Neuromuscul Disord 14(11):744-9. 2004
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| 9 | CTNND2, RAPSN, ZBTB33
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| Regulation of the rapsyn promoter by kaiso and delta-catenin.
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| Rodova M, Kelly KF, VanSaun M, Daniel JM, Werle MJ.
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| Mol Cell Biol 24(16):7188-96.
2004
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| 10 | CMSP, RAPSN
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| E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
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| Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG.
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| Hum Mol Genet 12(7):739-48. 2003
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| 11 | CMSP, RAPSN
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| Identification of pathogenic mutations in the human rapsyn gene.
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| Dunne V, Maselli RA.
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| J Hum Genet 48(4):204-7. Epub 2003 Mar 05. 2003
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| 12 | RAPSN, CMSP
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| Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
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| Muller JS, Mildner G, Muller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmuller H, Abicht A.
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| Neurology 60(11):1805-10. 2003
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| 13 | RAPSN, CMSP
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| Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
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| Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D.
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| Neurology 61(6):826-8. 2003
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| 14 | CMSP, RAPSN
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| Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
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| Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M.
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| Am J Hum Genet 70(4):875-85. 2002
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| 15 | RAPSN
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| Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering.
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| Ramarao MK, Bianchetta MJ, Lanken J, Cohen JB.
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| J Biol Chem 276(10):7475-83. 2001
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| 16 | RAPSN
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| the zinc finger domain of the 43-kDa receptor-associated protein, rapsyn : role in acetylcholine receptor clustering.
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| Bezakova G, et al.
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| Mol Cell Neurosci 11 : 274-288. 1998
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| 17 | RAPSN
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| Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1.
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| Buckel A, et al.
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| Genomics 35 : 613-616. 1996
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