NHLRC1
The NHLRC1 gene encodes malin, a single subunit E3 ubiquitin (UBB; MIM.191339) ligase, which contains a RING-HC-type zinc finger and 6 NHL domains and is subclassified as a member of the RING-HCa family.
Pathology
NHLRC1-associated Lafora disease
References
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. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nature Genet. 35: 125-127, 2003. [PubMed: 12958597]
Cheng, A., Zhang, M., Gentry, M. S., Worby, C. A., Dixon, J. E., Saltiel, A. R. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori’s disease. Genes Dev. 21: 2399-2409, 2007. [PubMed: 17908927]
Garyali, P., Siwach, P., Singh, P. K., Puri, R., Mittal, S., Sengupta, S., Parihar, R., Ganesh, S. The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system. Hum. Molec. Genet. 18: 688-700, 2009. [PubMed: 19036738]
Gentry, M. S., Worby, C. A., Dixon, J. E. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Proc. Nat. Acad. Sci. 102: 8501-8506, 2005. [PubMed: 15930137]
Gomez-Abad, C., Gomez-Garre, P., Gutierrez-Delicado, E., Saygi, S., Michelucci, R., Tassinari, C. A., Rodriguez de Cordoba, S., Serratosa, J. M. Lafora disease due to EPM2B mutations: a clinical and genetic study. Neurology 64: 982-986, 2005. [PubMed: 15781812]
Lohi, H., Ianzano, L., Zhao, X.-C., Chan, E. M., Turnbull, J., Scherer, S. W., Ackerley, C. A., Minassian, B. A. Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. Hum. Molec. Genet. 14: 2727-2736, 2005. [PubMed: 16115820]
Lohi, H., Young, E. J., Fitzmaurice, S. N., Rusbridge, C., Chan, E. M., Vervoort, M., Turnbull, J., Zhao, X.-C., Ianzano, L., Paterson, A. D., Sutter, N. B., Ostrander, E. A., Andre, C., Shelton, G. D., Ackerley, C. A., Scherer, S. W., Minassian, B. A. Expanded repeat in canine epilepsy. Science 307: 81-only, 2005. [PubMed: 15637270]
Mittal, S., Dubey, D., Yamakawa, K., Ganesh, S. Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. Hum. Molec. Genet. 16: 753-762, 2007. [PubMed: 17337485]
Singh, S., Sethi, I., Francheschetti, S., Riggio, C., Avanzini, G., Yamakawa, K., Delgado-Escueta, A. V., Ganesh, S. Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy. J. Med. Genet. 43: e48, 2006. (Note: Electronic Article.) [PubMed: 16950819]
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. Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. J. Hum. Genet. 50: 347-352, 2005. [PubMed: 16021330]