Home > A. Molecular pathology > NHLRC1

NHLRC1

Thursday 30 June 2011

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]