Gene Review:
RAPSN - receptor-associated protein of the synapse
Homo sapiens
Synonyms:
43 kDa postsynaptic protein, 43 kDa receptor-associated protein of the synapse, Acetylcholine receptor-associated 43 kDa protein, CMS1D, CMS1E, ...
- E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Ohno, K., Sadeh, M., Blatt, I., Brengman, J.M., Engel, A.G. Hum. Mol. Genet. (2003)
- Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. Buckel, A., Beeson, D., James, M., Vincent, A. Genomics (1996)
- A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. Müller, J.S., Abicht, A., Christen, H.J., Stucka, R., Schara, U., Mortier, W., Huebner, A., Lochmüller, H. Neuromuscul. Disord. (2004)
- Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. Banwell, B.L., Ohno, K., Sieb, J.P., Engel, A.G. Neuromuscul. Disord. (2004)
- Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Maselli, R.A., Dunne, V., Pascual-Pascual, S.I., Bowe, C., Agius, M., Frank, R., Wollmann, R.L. Muscle Nerve (2003)
- Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. M??ller, J.S., Baumeister, S.K., Rasic, V.M., Krause, S., Todorovic, S., Kugler, K., M??ller-Felber, W., Abicht, A., Lochm??ller, H. Neurology (2006)
- Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. Cossins, J., Burke, G., Maxwell, S., Spearman, H., Man, S., Kuks, J., Vincent, A., Palace, J., Fuhrer, C., Beeson, D. Brain (2006)
- Mass spectrometry of nicotinic acetylcholine receptors and associated proteins as models for complex transmembrane proteins. Lukas, R.J., Tubbs, K.A., Krivoshein, A.V., Bieber, A.L., Nelson, R.W. Anal. Biochem. (2002)