From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
NHL repeat-containing protein 1 is a
protein that in humans is encoded by the NHLRC1
gene.
[5]
[6]
See also
References
- ^
a
b
c
GRCh38: Ensembl release 89: ENSG00000187566 –
Ensembl, May 2017
- ^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000044231 –
Ensembl, May 2017
-
^
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
-
^
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
-
^ 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.
S2CID
32590557.
-
^
"Entrez Gene: NHLRC1 NHL repeat containing 1".
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.
Bibcode:
2002PNAS...9916899M.
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.
Bibcode:
2003Natur.425..805M.
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.
hdl:
10261/71541.
PMID
15781812.
S2CID
22318884.
- 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.
External links