Neurofilament light polypeptide is a protein that in humans is encoded by the NEFLgene.[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]
↑Jonsson, M.; Zetterberg, H.; Van Straaten, E.; Lind, K.; Syversen, S.; Edman, Å.; Blennow, K.; Rosengren, L.; Pantoni, L.; Inzitari, D.; Wallin, A. (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. PMID19845747.
↑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. PMID8863508.
↑Teunissen, CE; Iacobaeus, E; Khademi, M; Brundin, L; Norgren, N; Koel-Simmelink, MJ; Schepens, M; Bouwman, F; Twaalfhoven, HA; Blom, HJ; Jakobs, C; Dijkstra, CD (14 April 2009). "Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis". Neurology. 72 (15): 1322–9. doi:10.1212/wnl.0b013e3181a0fe3f. PMID19365053.
↑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.
↑Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (Apr 1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID8621664.
↑Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V (Nov 2002). "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. doi:10.1074/jbc.M207211200. PMID12226091.
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Hurst J, Flavell D, Julien JP, Meijer D, Mushynski W, Grosveld F (1987). "The human neurofilament gene (NEFL) is located on the short arm of chromosome 8". Cytogenet. Cell Genet. 45 (1): 30–2. doi:10.1159/000132421. PMID3036423.
Frappier T, Regnouf F, Pradel LA (1988). "Binding of brain spectrin to the 70-kDa neurofilament subunit protein". Eur. J. Biochem. 169 (3): 651–7. doi:10.1111/j.1432-1033.1987.tb13657.x. PMID3121319.
Nomata Y, Watanabe T, Wada H (1983). "Highly acidic proteins from human brain: purification and properties of Glu-50 protein". J. Biochem. 93 (3): 825–31. doi:10.1093/jb/93.3.825. PMID6135695.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
Pospelov VA, Pospelova TV, Julien JP (1994). "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. PMID8180132.
Dong DL, Xu ZS, Chevrier MR, Cotter RJ, Cleveland DW, Hart GW (1993). "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. PMID8344946.
Charron G, Guy LG, Bazinet M, Julien JP (1996). "Multiple neuron-specific enhancers in the gene coding for the human neurofilament light chain". J. Biol. Chem. 270 (51): 30604–10. doi:10.1074/jbc.270.51.30604. PMID8530496.
Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID8621664.
Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C (1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF". J. Neurochem. 67 (5): 2013–8. doi:10.1046/j.1471-4159.1996.67052013.x. PMID8863508.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Athlan ES, Mushynski WE (1998). "Heterodimeric associations between neuronal intermediate filament proteins". J. Biol. Chem. 272 (49): 31073–8. doi:10.1074/jbc.272.49.31073. PMID9388258.
Ehlers MD, Fung ET, O'Brien RJ, Huganir RL (1998). "Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments". J. Neurosci. 18 (2): 720–30. PMID9425014.
De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001). "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E". Ann. Neurol. 49 (2): 245–9. doi:10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A. PMID11220745.