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NHLRC1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

NHL repeat-containing protein 1 is a protein that in humans is encoded by the NHLRC1 gene.{{cite journal | vauthors = 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 | title = Mutations in NHLRC1 cause progressive myoclonus epilepsy | journal = Nat Genet | volume = 35 | issue = 2 | pages = 125–7 |date=Sep 2003 | pmid = 12958597 | doi = 10.1038/ng1238 | s2cid = 32590557 }}{{cite web | title = Entrez Gene: NHLRC1 NHL repeat containing 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=378884}}

See also

References

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Further reading

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  • {{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{Cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |bibcode=2003Natur.425..805M |doi-access= free }}
  • {{Cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{Cite journal |vauthors=Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, etal |title=Lafora disease due to EPM2B mutations: a clinical and genetic study. |journal=Neurology |volume=64 |issue= 6 |pages= 982–6 |year= 2006 |pmid= 15781812 |doi= 10.1212/01.WNL.0000154519.10805.F7 |hdl= 10261/71541 |s2cid=22318884 |hdl-access= free }}
  • {{Cite journal | vauthors=Gentry MS, Worby CA, Dixon JE |title=Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 24 |pages= 8501–6 |year= 2005 |pmid= 15930137 |doi= 10.1073/pnas.0503285102 | pmc=1150849 |doi-access=free }}
  • {{Cite journal |vauthors=Lohi H, Ianzano L, Zhao XC, etal |title=Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. |journal=Hum. Mol. Genet. |volume=14 |issue= 18 |pages= 2727–36 |year= 2006 |pmid= 16115820 |doi= 10.1093/hmg/ddi306 |doi-access= free }}
  • {{Cite journal |vauthors=Singh S, Sethi I, Francheschetti S, etal |title=Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. |journal=J. Med. Genet. |volume=43 |issue= 9 |pages= e48 |year= 2007 |pmid= 16950819 |doi= 10.1136/jmg.2005.039479 |pmc=2564581 }}
  • {{Cite journal | vauthors=Mittal S, Dubey D, Yamakawa K, Ganesh S |title=Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. |journal=Hum. Mol. Genet. |volume=16 |issue= 7 |pages= 753–62 |year= 2007 |pmid= 17337485 |doi= 10.1093/hmg/ddm006 |doi-access= free }}

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lafora GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type]

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