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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

EPM2AIP1  -  EPM2A (laforin) interacting protein 1

Homo sapiens

Synonyms: EPM2A-interacting protein 1, FLJ11207, KIAA0766, Laforin-interacting protein, My007
 
 
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Disease relevance of EPM2AIP1

 

High impact information on EPM2AIP1

  • METHODS: A cohort of 160 probands from HNPCC families who did not harbor germline sequence mutations in the mismatch repair genes were screened for methylation of the MLH1 and EPM2AIP1 promoters by combined bisulfite and restriction analyses [2].
  • In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material [3].
  • The EPM2AIP1 gene was identified in a screen for laforin-interacting proteins with a human brain cDNA library using the yeast two-hybrid system [1].

References

  1. Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. Ianzano, L., Zhao, X.C., Minassian, B.A., Scherer, S.W. Genomics (2003) [Pubmed]
  2. MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Hitchins, M., Williams, R., Cheong, K., Halani, N., Lin, V.A., Packham, D., Ku, S., Buckle, A., Hawkins, N., Burn, J., Gallinger, S., Goldblatt, J., Kirk, J., Tomlinson, I., Scott, R., Spigelman, A., Suter, C., Martin, D., Suthers, G., Ward, R. Gastroenterology (2005) [Pubmed]
  3. Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Chan, E.M., Ackerley, C.A., Lohi, H., Ianzano, L., Cortez, M.A., Shannon, P., Scherer, S.W., Minassian, B.A. Hum. Mol. Genet. (2004) [Pubmed]
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