Biology:NFL (protein)
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Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene.[1][2]
It is associated with Charcot–Marie–Tooth disease 1F and 2E. The Neurofilament light subunit can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in neurological disorders.[3] It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,[4] multiple sclerosis[5] and more recently Huntington's disease.[6]
See also
Interactions
NEFL has been shown to interact with:
- MAP2,[7]
- Protein kinase N1,[8] and
- TSC1.[9]
References
- ↑ "Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene". Arch Neurol 64 (7): 966–70. Jul 2007. doi:10.1001/archneur.64.7.966. PMID 17620486.
- ↑ "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747.
- ↑ Jonsson, M.; Zetterberg, H.; Van Straaten, E.; Lind, K.; Syversen, S.; Edman, Å.; Blennow, K.; Rosengren, L. et al. (March 2010). "Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study". European Journal of Neurology 17 (3): 377–382. doi:10.1111/j.1468-1331.2009.02808.x. PMID 19845747.
- ↑ Rosengren, LE; Karlsson, JE; Karlsson, JO; Persson, LI; Wikkelsø, C (November 1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF.". Journal of Neurochemistry 67 (5): 2013–8. doi:10.1046/j.1471-4159.1996.67052013.x. PMID 8863508.
- ↑ Teunissen, CE; Iacobaeus, E; Khademi, M; Brundin, L; Norgren, N; Koel-Simmelink, MJ; Schepens, M; Bouwman, F et al. (14 April 2009). "Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.". Neurology 72 (15): 1322–9. doi:10.1212/wnl.0b013e3181a0fe3f. PMID 19365053.
- ↑ Niemelä, Valter; Landtblom, Anne-Marie; Blennow, Kaj; Sundblom, Jimmy; Blum, David (27 February 2017). "Tau or neurofilament light—Which is the more suitable biomarker for Huntington’s disease?". PLOS ONE 12 (2): e0172762. doi:10.1371/journal.pone.0172762.
- ↑ "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 (2): 521–7. Apr 1991. doi:10.1042/bj2750521. PMID 1902666.
- ↑ "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. Apr 1996. doi:10.1074/jbc.271.16.9816. PMID 8621664.
- ↑ "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton". J. Biol. Chem. 277 (46): 44180–6. Nov 2002. doi:10.1074/jbc.M207211200. PMID 12226091.
Further reading
- "Gene Targeting Studies Begin to Reveal the Function of Neurofilament Proteins". J. Cell Biol. 143 (1): 1–4. 1998. doi:10.1083/jcb.143.1.1. PMID 9763415.
- "Origin of the two mRNA species for the human neurofilament light gene". Biochem. Cell Biol. 70 (5): 279–84. 1992. doi:10.1139/o92-044. PMID 1497855.
- "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 (Pt 2): 521–7. 1991. doi:10.1042/bj2750521. PMID 1902666.
- "Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells". Eur. J. Cell Biol. 50 (2): 475–90. 1990. PMID 2516804.
- "The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family". Biochim. Biophys. Acta 909 (1): 10–20. 1987. doi:10.1016/0167-4781(87)90041-8. PMID 3034332.
- "The human neurofilament gene (NEFL) is located on the short arm of chromosome 8". Cytogenet. Cell Genet. 45 (1): 30–2. 1987. doi:10.1159/000132421. PMID 3036423.
- "Binding of brain spectrin to the 70-kDa neurofilament subunit protein". Eur. J. Biochem. 169 (3): 651–7. 1988. doi:10.1111/j.1432-1033.1987.tb13657.x. PMID 3121319.
- "Highly acidic proteins from human brain: purification and properties of Glu-50 protein". J. Biochem. 93 (3): 825–31. 1983. doi:10.1093/jb/93.3.825. PMID 6135695.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells". Cell Growth Differ. 5 (2): 187–96. 1994. PMID 8180132.
- "Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M". J. Biol. Chem. 268 (22): 16679–87. 1993. PMID 8344946.
- "Multiple neuron-specific enhancers in the gene coding for the human neurofilament light chain". J. Biol. Chem. 270 (51): 30604–10. 1996. doi:10.1074/jbc.270.51.30604. PMID 8530496.
- "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. 1996. doi:10.1074/jbc.271.16.9816. PMID 8621664.
- "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF". J. Neurochem. 67 (5): 2013–8. 1996. doi:10.1046/j.1471-4159.1996.67052013.x. PMID 8863508.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Heterodimeric associations between neuronal intermediate filament proteins". J. Biol. Chem. 272 (49): 31073–8. 1998. doi:10.1074/jbc.272.49.31073. PMID 9388258.
- "Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments". J. Neurosci. 18 (2): 720–30. 1998. PMID 9425014.
- "A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene". Am. J. Hum. Genet. 67 (1): 37–46. 2000. doi:10.1086/302962. PMID 10841809.
- "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E". Ann. Neurol. 49 (2): 245–9. 2001. doi:10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A. PMID 11220745.
External links
- Bird, Thomas D (2013-11-07). Charcot-Marie-Tooth Neuropathy Type 1. NBK1205. https://www.ncbi.nlm.nih.gov/books/NBK1205/. In GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. 1993–. https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/.
- Bird, Thomas D (30 January 2014). Charcot-Marie-Tooth Neuropathy Type 2. NBK1285. https://www.ncbi.nlm.nih.gov/books/NBK1285/. In GeneReviews
- De Jonghe, Peter; Jordanova, Albena K (2011-10-27). Charcot-Marie-Tooth Neuropathy Type 2E/1F. NBK1187. https://www.ncbi.nlm.nih.gov/books/NBK1187/. In GeneReviews
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