Genomes and Genes
Gene Symbol: Nefl
Description: neurofilament light
Alias: NF-L, NF68, Nfl, neurofilament light polypeptide, 68 kDa neurofilament protein, 68kDa neurofilament, neurofilament triplet L protein, neurofilament, light polypeptide
- Monteiro M, Cleveland D. Expression of NF-L and NF-M in fibroblasts reveals coassembly of neurofilament and vimentin subunits. J Cell Biol. 1989;108:579-93 pubmed..Neither the alteration in the properties of the vimentin array nor the accumulation of NF-L to a level that made it the second most abundant cellular protein (after actin) had any observable effect on cell viability or growth rate...
- Nguyen M, Larivière R, Julien J. Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions. Neuron. 2001;30:135-47 pubmed
- Yuan A, Rao M, Kumar A, Julien J, Nixon R. Neurofilament transport in vivo minimally requires hetero-oligomer formation. J Neurosci. 2003;23:9452-8 pubmed..They also show that NF-M can partner with intermediate filament proteins other than the NF-H and NF-L subunits in neurons to support slow transport and possibly other functions of neuronal intermediate filaments. ..
- Fiordelisio T, Millán Aldaco D, Hernandez Cruz A. Cells of proopiomelanocortin lineage from the rodent anterior pituitary lack sexually dimorphic expression of neurofilaments. Neuroendocrinology. 2006;83:360-70 pubmed..gonadotrophs, thyrotrophs and somatotrophs of the rat anterior pituitary (AP) express 68-kDa neurofilaments (NF68) and other neuronal markers...
- Ishihara T, Higuchi M, Zhang B, Yoshiyama Y, Hong M, Trojanowski J, et al. Attenuated neurodegenerative disease phenotype in tau transgenic mouse lacking neurofilaments. J Neurosci. 2001;21:6026-35 pubmed..previously described tau (T44) Tg mice overexpressing the smallest human tau isoform with knock-out mice devoid of NFL (NFL-/-) or NFH (NFH-/-). Depletion of NF subunit proteins from the T44 mice (i.e...
- Yaremko M, Kutza C, Lyzak J, Mick R, Recant W, Westbrook C. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behavior in breast cancer. Genes Chromosomes Cancer. 1996;16:189-95 pubmed..3), and NEFL (8p21). All cases of IDC were informative with at least one marker, with a combined rate of LOH of 46%...
- Perez Olle R, Lopez Toledano M, Goryunov D, Cabrera Poch N, Stefanis L, Brown K, et al. Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J Neurochem. 2005;93:861-74 pubmed..Our results suggest that these generalized axonal transport defects could be responsible for the neuropathy in Charcot-Marie-Tooth disease. ..
- Beaulieu J, Jacomy H, Julien J. Formation of intermediate filament protein aggregates with disparate effects in two transgenic mouse models lacking the neurofilament light subunit. J Neurosci. 2000;20:5321-8 pubmed..Our results indicate that different types of IF protein aggregates with distinct properties may occur in a context of NF-L deficiency and that an axonal localization of such aggregates may be an important factor of toxicity. ..
- Li Z, Lu J, Tay S, Wu Y, Strong M, He B. Mice with targeted disruption of neurofilament light subunit display formation of protein aggregation in motoneurons and downregulation of complement receptor type 3 alpha subunit in microglia in the spinal cord at their earlier age: a possible featu. Brain Res. 2006;1113:200-9 pubmed..The present study has employed a mouse model with a lack of the low-molecular-weight neurofilament subunit (NFL-/-), in which formation of protein aggregates occurs in neurons, to investigate glial cellular reactions in the ..
- Vahidnia A, Romijn F, van der Voet G, de Wolff F. Arsenic-induced neurotoxicity in relation to toxicokinetics: effects on sciatic nerve proteins. Chem Biol Interact. 2008;176:188-95 pubmed publisher..In addition, hyperphosphorylation of NF-L and MAP-tau by As also contribute to destabilization and disruption of the cytoskeletal framework, which eventually may lead to axonal degeneration. ..
- Haddad L, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez Agosti C, et al. The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton. J Biol Chem. 2002;277:44180-6 pubmed
- Tsuda M, Tashiro T, Komiya Y. Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. J Neurochem. 2000;74:860-8 pubmed..The low-molecular-mass subunit remained in the insoluble fraction in both the normal and the regenerating nerves, indicating that selective solubilization of NF-H rather than total filament disassembly occurs during regeneration. ..
- Taniguchi T, Shimazawa M, Hara H. Alterations in neurofilament light in optic nerve in rat kainate and monkey ocular hypertension models. Brain Res. 2004;1013:241-8 pubmed..The amount of NF-L correlated with the morphological retinal and optic nerve damage in rats. These findings indicate that immunoblot evaluation of NF-L in the optic nerve may provide a quantitative index of optic nerve damage. ..
- Dong D, Xu Z, Chevrier M, Cotter R, Cleveland D, Hart G. Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M. J Biol Chem. 1993;268:16679-87 pubmed..Specific identification of these O-GlcNAc attachment sites has set the stage for more detailed mutagenic analysis of O-GlcNAc functions on neurofilaments. ..
- Kim S, Choi J, Suh P, Chang J. Pleckstrin homology domain of phospholipase C-gamma1 directly binds to 68-kDa neurofilament light chain. Exp Mol Med. 2006;38:265-72 pubmed..Our results suggest that PLC-gamma1-associated NF-L sequesters the phospholipid from the PH domain of PLC-gamma1. ..
- Fabrizi G, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, et al. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain. 2007;130:394-403 pubmed..Mutations in the NF-L gene (NEFL) cause autosomal dominant neuropathies that are classified either as axonal Charcot-Marie-Tooth (CMT) type 2E (..
- Smorodchenko A, Rupprecht A, Sarilova I, Ninnemann O, Bräuer A, Franke K, et al. Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during development. Biochim Biophys Acta. 2009;1788:2309-19 pubmed publisher..UCP4 preferential expression in neurons and its developmental expression pattern under physiological conditions may indicate a specific protein function, e.g. in neuronal cell differentiation. ..
- Reeben M, Neuman T, Palgi J, Palm K, Paalme V, Saarma M. Characterization of the rat light neurofilament (NF-L) gene promoter and identification of NGF and cAMP responsive regions. J Neurosci Res. 1995;40:177-88 pubmed..The role of these factors in NF-L gene transcriptional induction by NGF in PC12 cells is discussed. ..
- Ching G, Liem R. Analysis of the roles of the head domains of type IV rat neuronal intermediate filament proteins in filament assembly using domain-swapped chimeric proteins. J Cell Sci. 1999;112 ( Pt 13):2233-40 pubmed..The data obtained from these self-assembly and coassembly studies provide some new insights into the mechanism of intermediate filament assembly. ..
- Zuchner S, Vorgerd M, Sindern E, Schröder J. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul Disord. 2004;14:147-57 pubmed..This correlative study further confirms that neurofilament light gene mutations cause a wide clinical spectrum. Thus, analysis of the neurofilament light gene should not be restricted to pure axonal neuropathies. ..
- Cereseto M, Reinés A, Ferrero A, Sifonios L, Rubio M, Wikinski S. Chronic treatment with high doses of corticosterone decreases cytoskeletal proteins in the rat hippocampus. Eur J Neurosci. 2006;24:3354-64 pubmed..Twenty-one days later, light, medium and heavy subunits of intermediate neurofilaments (NFL, NFM and NFH) and the microtubule-associated protein 2 (MAP2) were quantified by immunohistochemistry in Ammon's ..
- Dubois M, Strazielle C, Julien J, Lalonde R. Mice with the deleted neurofilament of low molecular weight (Nefl) gene: 2. Effects on motor functions and spatial orientation. J Neurosci Res. 2005;80:751-8 pubmedMice with a null mutation of the Nefl gene were compared with normal controls in tests of motor activity, equilibrium, and spatial orientation...
- Kular R, Cvetanovic M, Siferd S, Kini A, Opal P. Neuronal differentiation is regulated by leucine-rich acidic nuclear protein (LANP), a member of the inhibitor of histone acetyltransferase complex. J Biol Chem. 2009;284:7783-92 pubmed publisher..Taken together, these results implicate INHATs as a distinct class of developmental regulators involved in the epigenetic modulation of neuronal differentiation. ..
- Schlaepfer W, Bruce J. Simultaneous up-regulation of neurofilament proteins during the postnatal development of the rat nervous system. J Neurosci Res. 1990;25:39-49 pubmed
- Levavasseur F, Zhu Q, Julien J. No requirement of alpha-internexin for nervous system development and for radial growth of axons. Brain Res Mol Brain Res. 1999;69:104-12 pubmed..Ours results do not support the hypothesis of a role for type IV intermediate filaments in axonal outgrowth during development of nervous system. ..
- Chin S, Liem R. Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells. Eur J Cell Biol. 1989;50:475-90 pubmed..Immunoelectron microscopic analysis revealed NF-M and vimentin proteins to be colocalized on the same intermediate filaments. ..
- Faussone Pellegrini M, Matini P, DeFelici M. The cytoskeleton of the myenteric neurons during murine embryonic life. Anat Embryol (Berl). 1999;199:459-69 pubmed
- El Fawal H, O Callaghan J. Autoantibodies to neurotypic and gliotypic proteins as biomarkers of neurotoxicity: assessment of trimethyltin (TMT). Neurotoxicology. 2008;29:109-15 pubmed..Serum autoantibodies (both IgM and IgG isotypes) to NF68, NF160, NF200, MBP, and GFAP were assayed using an ELISA...
- Wang Q, Hou L, Zhang C, Song F, Xie K. Changes of cytoskeletal proteins in nerve tissues and serum of rats treated with 2,5-hexanedione. Toxicology. 2008;244:166-78 pubmed publisher..NF-H was the most sensitive index, which may serve as a good indicator for neurotoxicity of n-hexane or HD. ..
- Kuramochi Y, Takagi Sakuma M, Kitahara M, Emori R, Asaba Y, Sakaguchi R, et al. Characterization of mouse homolog of brain acyl-CoA hydrolase: molecular cloning and neuronal localization. Brain Res Mol Brain Res. 2002;98:81-92 pubmed..These findings will contribute to the functional analysis of the BACH gene using mice including genetic studies. ..
- Julien J, Ramachandran K, Grosveld F. Cloning of a cDNA encoding the smallest neurofilament protein from the rat. Biochim Biophys Acta. 1985;825:398-404 pubmed..Blot analysis indicates that the cDNA is derived from a single neurofilament gene that codes for two different poly(A)+ mRNA species. ..
- Butz S, Larue L. Expression of catenins during mouse embryonic development and in adult tissues. Cell Adhes Commun. 1995;3:337-52 pubmed..Finally, the three catenins are not always concurrently expressed. For example, in peripheral nerves, only beta-catenin is observable, and in smooth muscle plakoglobin is not detectable. ..
- Schenker M, Riederer B, Kuntzer T, Barakat Walter I. Thyroid hormones stimulate expression and modification of cytoskeletal protein during rat sciatic nerve regeneration. Brain Res. 2002;957:259-70 pubmed..These results help us to understand partially the mechanism by which thyroid hormones enhance peripheral nerve regeneration. The stimulating effect of T3 on peripheral nerve regeneration may have considerable therapeutic potential. ..
- Kyeong I, Eum W, Choi S, Kang J. Oxidative modification of neurofilament-L and neuronal cell death induced by the catechol neurotoxin, tetrahydropapaveroline. Toxicol Lett. 2013;217:59-66 pubmed publisher..5-fold compared with control cells. Furthermore, treatment of cells with THP increased NF-L aggregate formation, suggesting the involvement of NF-L modification in THP-induced cell damage. ..
- Yu S, Son F, Yu J, Zhao X, Yu L, Li G, et al. Acrylamide alters cytoskeletal protein level in rat sciatic nerves. Neurochem Res. 2006;31:1197-204 pubmed..These findings suggest that ACR altered the cytoskeletal protein level in sciatic nerve, which may be one of the molecular mechanisms of ACR-induced peripheral neuropathy. ..
- Zamoner A, Heimfarth L, Pessoa Pureur R. Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Neurotoxicology. 2008;29:1092-9 pubmed publisher..These events could be somehow related to the neurological dysfunction described in hypothyroidism. ..
- Pierson C, Zhang W, Murakawa Y, Sima A. Insulin deficiency rather than hyperglycemia accounts for impaired neurotrophic responses and nerve fiber regeneration in type 1 diabetic neuropathy. J Neuropathol Exp Neurol. 2003;62:260-71 pubmed
- Fan Y, Pang C, Harvey A, Cui Q. Marked effect of RhoA-specific shRNA-producing plasmids on neurite growth in PC12 cells. Neurosci Lett. 2008;440:170-5 pubmed publisher..This shRNA may thus be a useful tool in promoting neurite outgrowth and could be applicable in neural repair after CNS injury. ..
- Kim S, Cho S, Lee I, Lee Y, Kang J, Choi J, et al. In vitro assay of neurofilament light chain self-assembly using truncated mutants. J Neurosci Methods. 2007;161:199-204 pubmed..Our results collectively imply that GST-fused head-rod domains of NF-L are critical tools for analyzing NF-L self-assembly in vitro. ..
- Gu L, Troncoso J, Wade J, Monteiro M. In vitro assembly properties of mutant and chimeric intermediate filament proteins: insight into the function of sequences in the rod and end domains of IF. Exp Cell Res. 2004;298:249-61 pubmed..Therefore, the effect of lamin A "tail" domain alone, or the synergistic effect of lamin "head" and the "tail" domains together, interferes with assembly into 10-nm filaments. ..
- Beaulieu J, Nguyen M, Julien J. Late onset of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol. 1999;147:531-44 pubmed..Taken together, these results suggest that IF inclusions containing peripherin may play a contributory role in motor neuron disease. ..
- Benson D, Mandell J, Shaw G, Banker G. Compartmentation of alpha-internexin and neurofilament triplet proteins in cultured hippocampal neurons. J Neurocytol. 1996;25:181-96 pubmed..Furthermore, the localization of alpha-internexin suggests that it may be involved in the formation or maintenance of dendritic spines. ..
- Ferrero A, Cereseto M, Sifonios L, Reinés A, Peixoto E, Rubio M, et al. Cytoskeleton of hippocampal neurons as a target for valproic acid in an experimental model of depression. Prog Neuropsychopharmacol Biol Psychiatry. 2007;31:1419-28 pubmed..Despite interruption of the treatment, a long-lasting effect of VPA was observed. A possible relationship between the effect on NF-L and the prevention of depressive-like behaviour recurrence could be suggested. ..
- Norgren N, Edelstam A, Stigbrand T. Cerebrospinal fluid levels of neurofilament light in chronic experimental autoimmune encephalomyelitis. Brain Res Bull. 2005;67:264-8 pubmed..Monitoring neurofilament levels in EAE can be used to follow disease progression and effects of therapy. ..
- Garcia M, Lobsiger C, Shah S, Deerinck T, Crum J, Young D, et al. NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. J Cell Biol. 2003;163:1011-20 pubmed..This has revealed that the tail domain of NF-M, with seven KSP motifs, is an essential target for the myelination-dependent outside-in signaling cascade that determines axonal caliber and conduction velocity of motor axons. ..
- Lopez Picon F, Uusi Oukari M, Holopainen I. Differential expression and localization of the phosphorylated and nonphosphorylated neurofilaments during the early postnatal development of rat hippocampus. Hippocampus. 2003;13:767-79 pubmed..These developmental changes could be of importance in determining the reactivity of hippocampal neurons in pathological conditions in the immature hippocampus. ..
- Perez Olle R, Leung C, Liem R. Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J Cell Sci. 2002;115:4937-46 pubmed..Recently, two mutations in the neurofilament light (NFL) subunit have been identified in families affected by Charcot-Marie-Tooth (CMT) neuropathy type 2...
- Ghosh S, Rahaman S, Sarkar P. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Neuroreport. 1999;10:2361-5 pubmed..The overall results show that TH plays an important role in regulating the expression of all three NF genes during rat brain development. ..
- Ozaki H, Katoh T, Nakagawa R, Ishihara Y, Sueyoshi N, Kameshita I, et al. Ca(2+)/calmodulin-dependent protein kinase phosphatase (CaMKP/PPM1F) interacts with neurofilament L and inhibits its filament association. Biochem Biophys Res Commun. 2016;477:820-825 pubmed publisher..CaMKP as a probe, in conjunction with peptide mass fingerprinting analysis, we identified neurofilament L (NFL) as a CaMKP-binding protein in a Triton-insoluble fraction of rat brain...
- Shen Z, Lu H, Li X, Xu D, Hu J, Wang X. [Tetramethylpyrazine accelerated spinal cord repair through regulation of caspase-3 and neurofilament protein expression: an acute spinal cord injury model in rats]. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008;33:693-9 pubmed..Tetramethylpyrazine improves spinal cord healing through regulation of caspase-3 and neurofilament protein expression. ..
- Camargo de Morais M, De Freitas M, De Mattos A, Schroder N, Zilles A, Lisboa C, et al. Effects of brain ischemia on intermediate filaments of rat hippocampus. Neurochem Res. 1996;21:595-602 pubmed..These results suggest that transient ischemia followed by reperfusion causes proteolysis of intermediate filaments in the hippocampus, and the proteolysis could be facilitated by diminished phosphorylation levels of NF-M and NF-L. ..