RAPSN

Receptor-associated protein of the synapse, also known as RAPSN, is a human gene.cite web | title = Entrez Gene: RAPSN receptor-associated protein of the synapse| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5913| accessdate = ]

PBB_Summary
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summary_text = This protein belongs to a family of proteins that are receptor associated proteins of the synapse. It contains a conserved cAMP-dependent protein kinase phosphorylation site. It is believed to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Two splice variants have been identified for this gene.cite web | title = Entrez Gene: RAPSN receptor-associated protein of the synapse| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5913| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Apel ED, Roberds SL, Campbell KP, Merlie JP |title=Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex. |journal=Neuron |volume=15 |issue= 1 |pages= 115–26 |year= 1995 |pmid= 7619516 |doi=
*cite journal | author=Buckel A, Beeson D, James M, Vincent A |title=Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. |journal=Genomics |volume=35 |issue= 3 |pages= 613–6 |year= 1996 |pmid= 8812503 |doi= 10.1006/geno.1996.0409
*cite journal | author=Apel ED, Glass DJ, Moscoso LM, "et al." |title=Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold. |journal=Neuron |volume=18 |issue= 4 |pages= 623–35 |year= 1997 |pmid= 9136771 |doi=
*cite journal | author=Yang SH, Armson PF, Cha J, Phillips WD |title=Clustering of GABAA receptors by rapsyn/43kD protein in vitro. |journal=Mol. Cell. Neurosci. |volume=8 |issue= 6 |pages= 430–8 |year= 1997 |pmid= 9143560 |doi= 10.1006/mcne.1997.0597
*cite journal | author=Ramarao MK, Cohen JB |title=Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 7 |pages= 4007–12 |year= 1998 |pmid= 9520483 |doi=
*cite journal | author=Fung ET, Lanahan A, Worley P, Huganir RL |title=Identification of a Torpedo homolog of Sam68 that interacts with the synapse organizing protein rapsyn. |journal=FEBS Lett. |volume=437 |issue= 1-2 |pages= 29–33 |year= 1998 |pmid= 9804166 |doi=
*cite journal | author=Qian X, Riccio A, Zhang Y, Ginty DD |title=Identification and characterization of novel substrates of Trk receptors in developing neurons. |journal=Neuron |volume=21 |issue= 5 |pages= 1017–29 |year= 1999 |pmid= 9856458 |doi=
*cite journal | author=Zhou H, Glass DJ, Yancopoulos GD, Sanes JR |title=Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations. |journal=J. Cell Biol. |volume=146 |issue= 5 |pages= 1133–46 |year= 1999 |pmid= 10477765 |doi=
*cite journal | author=Han H, Noakes PG, Phillips WD |title=Overexpression of rapsyn inhibits agrin-induced acetylcholine receptor clustering in muscle cells. |journal=J. Neurocytol. |volume=28 |issue= 9 |pages= 763–75 |year= 2000 |pmid= 10859577 |doi=
*cite journal | author=Ramarao MK, Bianchetta MJ, Lanken J, Cohen JB |title=Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering. |journal=J. Biol. Chem. |volume=276 |issue= 10 |pages= 7475–83 |year= 2001 |pmid= 11087759 |doi= 10.1074/jbc.M009888200
*cite journal | author=Lin W, Burgess RW, Dominguez B, "et al." |title=Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. |journal=Nature |volume=410 |issue= 6832 |pages= 1057–64 |year= 2001 |pmid= 11323662 |doi= 10.1038/35074025
*cite journal | author=Bartoli M, Ramarao MK, Cohen JB |title=Interactions of the rapsyn RING-H2 domain with dystroglycan. |journal=J. Biol. Chem. |volume=276 |issue= 27 |pages= 24911–7 |year= 2001 |pmid= 11342559 |doi= 10.1074/jbc.M103258200
*cite journal | author=Ohno K, Engel AG, Shen XM, "et al." |title=Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. |journal=Am. J. Hum. Genet. |volume=70 |issue= 4 |pages= 875–85 |year= 2002 |pmid= 11791205 |doi=
*cite journal | author=Marchand S, Devillers-Thiéry A, Pons S, "et al." |title=Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts. |journal=J. Neurosci. |volume=22 |issue= 20 |pages= 8891–901 |year= 2002 |pmid= 12388596 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Huebsch KA, Maimone MM |title=Rapsyn-mediated clustering of acetylcholine receptor subunits requires the major cytoplasmic loop of the receptor subunits. |journal=J. Neurobiol. |volume=54 |issue= 3 |pages= 486–501 |year= 2003 |pmid= 12532399 |doi= 10.1002/neu.10177
*cite journal | author=Ohno K, Sadeh M, Blatt I, "et al." |title=E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. |journal=Hum. Mol. Genet. |volume=12 |issue= 7 |pages= 739–48 |year= 2003 |pmid= 12651869 |doi=
*cite journal | author=Dunne V, Maselli RA |title=Identification of pathogenic mutations in the human rapsyn gene. |journal=J. Hum. Genet. |volume=48 |issue= 4 |pages= 204–7 |year= 2003 |pmid= 12730725 |doi= 10.1007/s10038-003-0005-7
*cite journal | author=Müller JS, Mildner G, Müller-Felber W, "et al." |title=Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. |journal=Neurology |volume=60 |issue= 11 |pages= 1805–10 |year= 2004 |pmid= 12796535 |doi=
*cite journal | author=Richard P, Gaudon K, Andreux F, "et al." |title=Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. |journal=J. Med. Genet. |volume=40 |issue= 6 |pages= e81 |year= 2003 |pmid= 12807980 |doi=

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