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'''Neurofilament light polypeptide''' is a [[protein]] that in humans is encoded by the ''NEFL'' [[gene]].<ref name="pmid17620486">{{cite journal | vauthors = Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN | title = Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene | journal = Arch Neurol | volume = 64 | issue = 7 | pages = 966–70 | date = Jul 2007 | pmid = 17620486 | pmc = | doi = 10.1001/archneur.64.7.966 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NEFL neurofilament, light polypeptide 68kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747| accessdate = }}</ref> | '''Neurofilament light polypeptide''' is a [[protein]] that in humans is encoded by the ''NEFL'' [[gene]].<ref name="pmid17620486">{{cite journal | vauthors = Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN | title = Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene | journal = Arch Neurol | volume = 64 | issue = 7 | pages = 966–70 | date = Jul 2007 | pmid = 17620486 | pmc = | doi = 10.1001/archneur.64.7.966 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NEFL neurofilament, light polypeptide 68kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747| accessdate = }}</ref> | ||
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.<ref>{{cite journal|last1=Jonsson|first1=M.|last2=Zetterberg|first2=H.|last3=Van Straaten|first3=E.|last4=Lind|first4=K.|last5=Syversen|first5=S.|last6=Edman|first6=Å.|last7=Blennow|first7=K.|last8=Rosengren|first8=L.|last9=Pantoni|first9=L.|last10=Inzitari|first10=D.|last11=Wallin|first11=A.|title=Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study|journal=European Journal of Neurology|date=March 2010|volume=17|issue=3|pages=377–382|doi=10.1111/j.1468-1331.2009.02808.x|pmid= 19845747}}</ref> It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,<ref>{{cite journal|last1=Rosengren|first1=LE|last2=Karlsson|first2=JE|last3=Karlsson|first3=JO|last4=Persson|first4=LI|last5=Wikkelsø|first5=C|title=Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF.|journal=Journal of Neurochemistry|date=November 1996|volume=67|issue=5|pages=2013–8|pmid=8863508}}</ref> multiple sclerosis<ref>{{cite journal|last1=Teunissen|first1=CE|last2=Iacobaeus|first2=E|last3=Khademi|first3=M|last4=Brundin|first4=L|last5=Norgren|first5=N|last6=Koel-Simmelink|first6=MJ|last7=Schepens|first7=M|last8=Bouwman|first8=F|last9=Twaalfhoven|first9=HA|last10=Blom|first10=HJ|last11=Jakobs|first11=C|last12=Dijkstra|first12=CD|title=Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.|journal=Neurology|date=14 April 2009|volume=72|issue=15|pages=1322–9|pmid=19365053}}</ref> and more recently | 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.<ref>{{cite journal|last1=Jonsson|first1=M.|last2=Zetterberg|first2=H.|last3=Van Straaten|first3=E.|last4=Lind|first4=K.|last5=Syversen|first5=S.|last6=Edman|first6=Å.|last7=Blennow|first7=K.|last8=Rosengren|first8=L.|last9=Pantoni|first9=L.|last10=Inzitari|first10=D.|last11=Wallin|first11=A.|title=Cerebrospinal fluid biomarkers of white matter lesions - cross-sectional results from the LADIS study|journal=European Journal of Neurology|date=March 2010|volume=17|issue=3|pages=377–382|doi=10.1111/j.1468-1331.2009.02808.x|pmid= 19845747}}</ref> It is a useful maker for disease monitoring in Amyotrophic Lateral Sclerosis,<ref>{{cite journal|last1=Rosengren|first1=LE|last2=Karlsson|first2=JE|last3=Karlsson|first3=JO|last4=Persson|first4=LI|last5=Wikkelsø|first5=C|title=Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF.|journal=Journal of Neurochemistry|date=November 1996|volume=67|issue=5|pages=2013–8|pmid=8863508|doi=10.1046/j.1471-4159.1996.67052013.x}}</ref> multiple sclerosis<ref>{{cite journal|last1=Teunissen|first1=CE|last2=Iacobaeus|first2=E|last3=Khademi|first3=M|last4=Brundin|first4=L|last5=Norgren|first5=N|last6=Koel-Simmelink|first6=MJ|last7=Schepens|first7=M|last8=Bouwman|first8=F|last9=Twaalfhoven|first9=HA|last10=Blom|first10=HJ|last11=Jakobs|first11=C|last12=Dijkstra|first12=CD|title=Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis.|journal=Neurology|date=14 April 2009|volume=72|issue=15|pages=1322–9|pmid=19365053|doi=10.1212/wnl.0b013e3181a0fe3f}}</ref> and more recently Huntington's disease.<ref>{{cite journal|last1=Niemelä|first1=Valter|last2=Landtblom|first2=Anne-Marie|last3=Blennow|first3=Kaj|last4=Sundblom|first4=Jimmy|last5=Blum|first5=David|title=Tau or neurofilament light—Which is the more suitable biomarker for Huntington’s disease?|journal=PLOS ONE|date=27 February 2017|volume=12|issue=2|pages=e0172762|doi=10.1371/journal.pone.0172762}}</ref> | ||
== See also == | == See also == | ||
Latest revision as of 08:50, 10 January 2019
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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:
References
- ↑ Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN (Jul 2007). "Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene". Arch Neurol. 64 (7): 966–70. doi:10.1001/archneur.64.7.966. PMID 17620486.
- ↑ "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa".
- ↑ 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. 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; 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. 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.
- ↑ Frappier T, Stetzkowski-Marden F, Pradel LA (Apr 1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 (2): 521–7. doi:10.1042/bj2750521. PMC 1150082. PMID 1902666.
- ↑ 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. PMID 8621664.
- ↑ 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. PMID 12226091.
Further reading
- Hirokawa N, Takeda S (1998). "Gene Targeting Studies Begin to Reveal the Function of Neurofilament Proteins". J. Cell Biol. 143 (1): 1–4. doi:10.1083/jcb.143.1.1. PMC 2132816. PMID 9763415.
- Beaudet L, Charron G, Julien JP (1992). "Origin of the two mRNA species for the human neurofilament light gene". Biochem. Cell Biol. 70 (5): 279–84. doi:10.1139/o92-044. PMID 1497855.
- Frappier T, Stetzkowski-Marden F, Pradel LA (1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 (Pt 2): 521–7. doi:10.1042/bj2750521. PMC 1150082. PMID 1902666.
- Chin SS, Liem RK (1990). "Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells". Eur. J. Cell Biol. 50 (2): 475–90. PMID 2516804.
- Julien JP, Grosveld F, Yazdanbaksh K, Flavell D, Meijer D, Mushynski W (1987). "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. doi:10.1016/0167-4781(87)90041-8. PMID 3034332.
- 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. PMID 3036423.
- 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. PMID 3121319.
- 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. PMID 6135695.
- 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. PMID 8125298.
- 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. PMID 8180132.
- 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. PMID 8344946.
- 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. PMID 8530496.
- 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. PMID 8621664.
- 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. PMID 8863508.
- 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. PMID 9373149.
- 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. PMID 9388258.
- 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. PMID 9425014.
- Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000). "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. doi:10.1086/302962. PMC 1287099. PMID 10841809.
- 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. PMID 11220745.
External links
- Bird, Thomas D (2013-11-07). Charcot-Marie-Tooth Neuropathy Type 1. NBK1205. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in:
|year=(help) - Bird, Thomas D (30 January 2014). Charcot-Marie-Tooth Neuropathy Type 2. PMID 20301462. NBK1285. In GeneReviews
- De Jonghe, Peter; Jordanova, Albena K (2011-10-27). Charcot-Marie-Tooth Neuropathy Type 2E/1F. NBK1187. In GeneReviews