NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene .[1] [2]
See also References
↑ Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW (Sep 2003). "Mutations in NHLRC1 cause progressive myoclonus epilepsy". Nat Genet . 35 (2): 125–7. doi :10.1038/ng1238 . PMID 12958597 . ↑ "Entrez Gene: NHLRC1 NHL repeat containing 1" .
External links Further reading
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature . 425 (6960): 805–11. doi :10.1038/nature02055 . PMID 14574404 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, et al. (2006). "Lafora disease due to EPM2B mutations: a clinical and genetic study". Neurology . 64 (6): 982–6. doi :10.1212/01.WNL.0000154519.10805.F7 . PMID 15781812 . Gentry MS, Worby CA, Dixon JE (2005). "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin" . Proc. Natl. Acad. Sci. U.S.A . 102 (24): 8501–6. doi :10.1073/pnas.0503285102 . PMC 1150849 PMID 15930137 . Lohi H, Ianzano L, Zhao XC, et al. (2006). "Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy". Hum. Mol. Genet . 14 (18): 2727–36. doi :10.1093/hmg/ddi306 . PMID 16115820 . Singh S, Sethi I, Francheschetti S, et al. (2007). "Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy" . J. Med. Genet . 43 (9): e48. doi :10.1136/jmg.2005.039479 . PMC 2564581 PMID 16950819 . Mittal S, Dubey D, Yamakawa K, Ganesh S (2007). "Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment". Hum. Mol. Genet . 16 (7): 753–62. doi :10.1093/hmg/ddm006 . PMID 17337485 .
