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RAPSN  -  receptor-associated protein of the synapse

Homo sapiens

 
 
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Disease relevance of RAPSN

 

High impact information on RAPSN

 

Chemical compound and disease context of RAPSN

 

Biological context of RAPSN

  • A sporadic CMS patient from Germany was analyzed for RAPSN mutations by RFLP, long-range PCR and sequence analysis [3].
  • We hypothesize that numerous interspersed Alu elements may predispose the RAPSN locus for genetic rearrangements [3].
  • Surprisingly, two N88K homozygous patients had one asymptomatic relative each who carried the same genotype, suggesting that additional genetic factors to RAPSN mutations are required for disease expression [5].
  • RESULTS: For the putative splice mutation (IVS1-15C>A), the authors constructed wild-type and mutated RAPSN minigenes for transfection and subsequent RNA analysis [6].
  • METHODS: The authors analyzed the RAPSN gene for sequence variations and carried out in vitro studies in order to delineate the potential pathogenicity of the three novel RAPSN mutations [6].
 

Anatomical context of RAPSN

  • Here we expressed RAPSN mutations A25V, N88K, R91L, L361R and K373del in TE671 cells and in rapsyn-/- myotubes to determine their pathogenic mechanisms [7].
 

Associations of RAPSN with chemical compounds

  • These studies illustrate how masses can be determined for nAChR subunits and for other protein components in Torpedo membrane preparations, such as RAPsyn and Na(+)-K(+)-ATPase alpha and beta subunits [8].

References

  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
  4. 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) [Pubmed]
  5. 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) [Pubmed]
  6. 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) [Pubmed]
  7. 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) [Pubmed]
  8. 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) [Pubmed]
 
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