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