NHLRC1 explained

NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.^{[1] [2]}

See also

• NHL repeat

Further reading

• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Mungall AJ, Palmer SA, Sims SK, etal . The DNA sequence and analysis of human chromosome 6. . Nature . 425 . 6960 . 805–11 . 2003 . 14574404 . 10.1038/nature02055 . 2003Natur.425..805M . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, etal . Lafora disease due to EPM2B mutations: a clinical and genetic study. . Neurology . 64 . 6 . 982–6 . 2006 . 15781812 . 10.1212/01.WNL.0000154519.10805.F7 . 10261/71541 . 22318884 . free .
• Gentry MS, Worby CA, Dixon JE . 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 . 2005 . 15930137 . 10.1073/pnas.0503285102 . 1150849 . free .
• Lohi H, Ianzano L, Zhao XC, etal . Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. . Hum. Mol. Genet. . 14 . 18 . 2727–36 . 2006 . 16115820 . 10.1093/hmg/ddi306 . free .
• Singh S, Sethi I, Francheschetti S, etal . Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. . J. Med. Genet. . 43 . 9 . e48 . 2007 . 16950819 . 10.1136/jmg.2005.039479 . 2564581 .
• Mittal S, Dubey D, Yamakawa K, Ganesh S . Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. . Hum. Mol. Genet. . 16 . 7 . 753–62 . 2007 . 17337485 . 10.1093/hmg/ddm006 . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type

Notes and References

1. 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 . Mutations in NHLRC1 cause progressive myoclonus epilepsy . Nat Genet . 35 . 2 . 125–7 . Sep 2003 . 12958597 . 10.1038/ng1238 . 32590557 .
2. Web site: Entrez Gene: NHLRC1 NHL repeat containing 1.