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Epm2a  -  epilepsy, progressive myoclonic epilepsy,...

Mus musculus

Synonyms: Glucan phosphatase, LAFPTPase, Lafora PTPase, Laforin, TG-B, ...
 
 
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Disease relevance of Epm2a

  • Overexpressing Epm2a suppressed the growth of established tumor cells and the development of lymphoma in the TG-B mice, while specific silencing of the locus increased tumorigenesis in the immune-deficient host [1].
  • Substitution of Trp32 in the CBD by Gly, a mutation found in a patient, caused only a 30% decrease in laforin activity but abolished binding to and inhibition by glycogen, indicating that impaired glycogen binding is sufficient to cause Lafora disease [2].
  • Mouse laforin was expressed as an N-terminally polyHis tagged protein in Escherichia coli and purified close to homogeneity [2].
 

High impact information on Epm2a

References

  1. Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling. Wang, Y., Liu, Y., Wu, C., Zhang, H., Zheng, X., Zheng, Z., Geiger, T.L., Nuovo, G.J., Liu, Y., Zheng, P. Cancer Cell (2006) [Pubmed]
  2. Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase. Wang, W., Roach, P.J. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  3. Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A. Ganesh, S., Amano, K., Delgado-Escueta, A.V., Yamakawa, K. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
 
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