Gene Review:
NHLRC1 - NHL repeat containing E3 ubiquitin protein...
Homo sapiens
Synonyms:
E3 ubiquitin-protein ligase NHLRC1, EPM2A, EPM2B, MALIN, Malin, ...
- Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. Singh, S., Suzuki, T., Uchiyama, A., Kumada, S., Moriyama, N., Hirose, S., Takahashi, Y., Sugie, H., Mizoguchi, K., Inoue, Y., Kimura, K., Sawaishi, Y., Yamakawa, K., Ganesh, S. J. Hum. Genet. (2005)
- Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Gentry, M.S., Worby, C.A., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2005)
- Clinical and genetic findings in 26 Italian patients with Lafora disease. Franceschetti, S., Gambardella, A., Canafoglia, L., Striano, P., Lohi, H., Gennaro, E., Ianzano, L., Veggiotti, P., Sofia, V., Biondi, R., Striano, S., Gellera, C., Annesi, G., Madia, F., Civitelli, D., Rocca, F.E., Quattrone, A., Avanzini, G., Minassian, B., Zara, F. Epilepsia (2006)
- Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B. Chan, E.M., Andrade, D.M., Franceschetti, S., Minassian, B. Advances in neurology. (2005)
- Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan, E.M., Young, E.J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C.C., Avanzini, G., Elia, M., Ackerley, C.A., Jovic, N.J., Bohlega, S., Andermann, E., Rouleau, G.A., Delgado-Escueta, A.V., Minassian, B.A., Scherer, S.W. Nat. Genet. (2003)
- The interaction of bovine factor VIII with human platelets. Kirby, E.P., Mills, D.C. J. Clin. Invest. (1975)
- Auditory gap detection in the early blind. Weaver, K.E., Stevens, A.A. Hear. Res. (2006)
- Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes. Ianzano, L., Zhang, J., Chan, E.M., Zhao, X.C., Lohi, H., Scherer, S.W., Minassian, B.A. Hum. Mutat. (2005)
- Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Ianzano, L., Young, E.J., Zhao, X.C., Chan, E.M., Rodriguez, M.T., Torrado, M.V., Scherer, S.W., Minassian, B.A. Hum. Mutat. (2004)
- Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Lohi, H., Turnbull, J., Zhao, X.C., Pullenayegum, S., Ianzano, L., Yahyaoui, M., Mikati, M.A., Franceschetti, S., Zara, F., Minassian, B.A. Neurology (2007)