Thin polypeptide neurofilament is a protein encoded in humans by the NeFL gene [1] [2] .
| Thin polypeptide neurofilament | |||||||||||||
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| Symbol | ; CMT1F; CMT2E; NF-L; NF68; Nfl | ||||||||||||
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It is associated with Charcot-Marie-Tooth disease 1F and 2E.
Content
- 1 Interactions
- 2 See also
- 3 notes
- 4 Literature
Interactions
NeFL has been found to interact with:
- MAP2 , [3]
- Protein kinase N1 , [4] and
- TSC1 . [5]
See also
- Neurofilament
Notes
- ↑ Miltenberger-Miltenyi G., Janecke AR, Wanschitz JV, Timmerman V., Windpassinger C., Auer-Grumbach M., Löscher WN Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene // Arch Neurol : journal. - 2007 .-- July ( vol. 64 , no. 7 ). - P. 966-970 . - DOI : 10.1001 / archneur.64.7.966 . - PMID 17620486 .
- ↑ Entrez Gene: NEFL neurofilament, light polypeptide 68kDa .
- ↑ Frappier T., Stetzkowski-Marden F., Pradel LA Interaction domains of neurofilament light chain and brain spectrin (Eng.) // Biochem. J. : journal. - 1991 .-- April ( vol. 275 (Pt 2) ). - P. 521-527 . - PMID 1902666 .
- ↑ Mukai H., Toshimori M., Shibata H., Kitagawa M., Shimakawa M., Miyahara M., Sunakawa H., Ono Y. PKN associates and phosphorylates the head-rod domain of neurofilament protein // J. Biol. Chem. : journal. - 1996 .-- April ( vol. 271 , no. 16 ). - P. 9816-9822 . - DOI : 10.1074 / jbc.271.16.9816 . - PMID 8621664 .
- ↑ Haddad LA, Smith N., Bowser M., Niida Y., Murthy V., Gonzalez-Agosti C., Ramesh V. The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton (English) // J. Biol. Chem. : journal. - 2002 .-- November ( vol. 277 , no. 46 ). - P. 44180-44186 . - DOI : 10.1074 / jbc.M207211200 . - PMID 12226091 .
Literature
- Hirokawa N., Takeda S. Gene Targeting Studies Begin to Reveal the Function of Neurofilament Proteins (Eng.) // J. Cell Biol. : journal. - 1998. - Vol. 143 , no. 1 . - P. 1-4 . - DOI : 10.1083 / jcb.143.1.1 . - PMID 9763415 .
- Beaudet L., Charron G., Julien JP Origin of the two mRNA species for the human neurofilament light gene (Eng.) // Biochem. Cell Biol. : journal. - 1992. - Vol. 70 , no. 5 . - P. 279-284 . - DOI : 10.1139 / o92-044 . - PMID 1497855 .
- Frappier T., Stetzkowski-Marden F., Pradel LA Interaction domains of neurofilament light chain and brain spectrin (Eng.) // Biochem. J. : journal. - 1991. - Vol. 275 (Pt 2) , no. Pt 2 . - P. 521-527 . - PMID 1902666 .
- Chin SS, Liem RK Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells (Eng.) // Eur. J. Cell Biol. : journal. - 1990. - Vol. 50 , no. 2 . - P. 475-490 . - PMID 2516804 .
- Julien JP, Grosveld F., Yazdanbaksh K., Flavell D., Meijer D., Mushynski W. The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family ) // Biochim. Biophys. Acta : journal. - 1987. - Vol. 909 , no. 1 . - P. 10-20 . - DOI : 10.1016 / 0167-4781 (87) 90041-8 . - PMID 3034332 .
- Hurst J., Flavell D., Julien JP, Meijer D., Mushynski W., Grosveld F. The human neurofilament gene (NEFL) is located on the short arm of chromosome 8 (Eng.) // Cytogenet. Cell Genet. : journal. - 1987. - Vol. 45 , no. 1 . - P. 30-2 . - DOI : 10.1159 / 000132421 . - PMID 3036423 .
- Frappier T., Regnouf F., Pradel LA Binding of brain spectrin to the 70- ka Da neurofilament subunit protein (English) // Eur. J. Biochem. : journal. - 1988. - Vol. 169 , no. 3 . - P. 651-657 . - DOI : 10.1111 / j.1432-1033.1987.tb13657.x . - PMID 3121319 .
- Nomata Y., Watanabe T., Wada H. Highly acidic proteins from human brain: purification and properties of Glu-50 protein (Eng.) // J. Biochem. : journal. - 1983. - Vol. 93 , no. 3 . - P. 825-831 . - DOI : 10.1093 / jb / 93.3.825 . - PMID 6135695 .
- Maruyama K., Sugano S. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides (Eng.) // Gene : journal. - Elsevier , 1994. - Vol. 138 , no. 1-2 . - P. 171-174 . - DOI : 10.1016 / 0378-1119 (94) 90802-8 . - PMID 8125298 .
- Pospelov VA, Pospelova TV, Julien JP AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells (Eng.) // Cell Growth Differ. : journal. - 1994. - Vol. 5 , no. 2 . - P. 187-196 . - PMID 8180132 .
- Dong DL, Xu ZS, Chevrier MR, Cotter RJ, Cleveland DW, Hart GW Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M // J. Biol. Chem. : journal. - 1993. - Vol. 268 , no. 22 . - P. 16679-16687 . - PMID 8344946 .
- Charron G., Guy LG, Bazinet M., Julien JP Multiple neuron-specific enhancers in the gene coding for the human neurofilament light chain (Eng.) // J. Biol. Chem. : journal. - 1996. - Vol. 270 , no. 51 . - P. 30604-30610 . - DOI : 10.1074 / jbc.270.51.30604 . - PMID 8530496 .
- Mukai H., Toshimori M., Shibata H., Kitagawa M., Shimakawa M., Miyahara M., Sunakawa H., Ono Y. PKN associates and phosphorylates the head-rod domain of neurofilament protein (English) // J . Biol. Chem. : journal. - 1996. - Vol. 271 , no. 16 . - P. 9816-9822 . - DOI : 10.1074 / jbc.271.16.9816 . - PMID 8621664 .
- Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C. Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF // J. Neurochem. : journal. - 1996. - Vol. 67 , no. 5 . - P. 2013—2018 . - DOI : 10.1046 / j.1471-4159.1996.67052013.x . - PMID 8863508 .
- Suzuki Y., Yoshitomo-Nakagawa K., Maruyama K., Suyama A., Sugano S. Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library (Eng.) // Gene : journal. - Elsevier , 1997 .-- Vol. 200 , no. 1-2 . - P. 149-156 . - DOI : 10.1016 / S0378-1119 (97) 00411-3 . - PMID 9373149 .
- Athlan ES, Mushynski WE Heterodimeric associations between neuronal intermediate filament proteins (Eng.) // J. Biol. Chem. : journal. - 1998. - Vol. 272 , no. 49 . - P. 31073-31078 . - DOI : 10.1074 / jbc.272.49.31073 . - PMID 9388258 .
- Ehlers MD, Fung ET, O'Brien RJ, Huganir RL Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments (Eng.) // J. Neurosci. : journal. - 1998. - Vol. 18 , no. 2 . - P. 720-730 . - PMID 9425014 .
- Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV 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. : journal. - 2000. - Vol. 67 , no. 1 . - P. 37–46 . - DOI : 10.1086 / 302962 . - PMID 10841809 .
- De Jonghe P., Mersivanova I., Nelis E., Del Favero J., Martin JJ, Van Broeckhoven C., Evgrafov O., Timmerman V. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E (Eng.) // Ann. Neurol. : journal. - 2001. - Vol. 49 , no. 2 . - P. 245-249 . - DOI : 10.1002 / 1531-8249 (20010201) 49: 2 <245 :: AID-ANA45> 3.0.CO; 2-A . - PMID 11220745 .