Genomes and Genes
Gene Symbol: Nefl
Description: neurofilament, light polypeptide
Alias: AI847934, CMT2E, NF-L, NF68, Nfl, neurofilament light polypeptide, 68 kDa neurofilament protein, neurofilament triplet L protein
- Tu P, Elder G, Lazzarini R, Nelson D, Trojanowski J, Lee V. Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits. J Cell Biol. 1995;129:1629-40 pubmed..and peripheral nervous system (PNS) neurons, are heteropolymers formed from the high (NFH), middle (NFM), and low (NFL) molecular weight NF subunits...
- Levy E, Liem R, D EUSTACHIO P, Cowan N. Structure and evolutionary origin of the gene encoding mouse NF-M, the middle-molecular-mass neurofilament protein. Eur J Biochem. 1987;166:71-7 pubmed..Consistent with this notion, we show that the genes encoding NF-M and NF-L are linked. ..
- Gut P, Huber K, Lohr J, Brühl B, Oberle S, Treier M, et al. Lack of an adrenal cortex in Sf1 mutant mice is compatible with the generation and differentiation of chromaffin cells. Development. 2005;132:4611-9 pubmed..Our results suggest that cortical cues are not essential for determining chromaffin cell fate, but may be required for proper migration of SA progenitors to and/or colonization of the adrenal anlage...
- Jacomy H, Zhu Q, Couillard Despres S, Beaulieu J, Julien J. Disruption of type IV intermediate filament network in mice lacking the neurofilament medium and heavy subunits. J Neurochem. 1999;73:972-84 pubmed..The combined results demonstrate a requirement of the high-molecular-weight subunits for the assembly of type IV intermediate filament proteins and for the efficient translocation of NF-L proteins into the axonal compartment. ..
- Zhu Q, Couillard Despres S, Julien J. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol. 1997;148:299-316 pubmed..These results provide the first direct evidence for a role of neurofilaments in the maturation of regenerating myelinated axons. ..
- Eyer J, Peterson A. Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein. Neuron. 1994;12:389-405 pubmed..We conclude that an organized neurofilament cytoskeleton is required by axons to achieve large calibers but is not essential for neuronal function or extended survival. ..
- 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. ..
- 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...
- 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. ..
- Huber K, Brühl B, Guillemot F, Olson E, Ernsberger U, Unsicker K. Development of chromaffin cells depends on MASH1 function. Development. 2002;129:4729-38 pubmed..Together, these findings suggest that the development of chromaffin cells does depend on MASH1 function not only for catecholaminergic differentiation but also for general chromaffin cell differentiation. ..
- Julien J, Couillard Despres S, Meier J. Transgenic mice in the study of ALS: the role of neurofilaments. Brain Pathol. 1998;8:759-69 pubmed..However, in the context of motor neuron disease caused by mutant SOD1, there is emerging evidence that NF proteins rather play a protective role. ..
- Stokin G, Lillo C, Falzone T, Brusch R, Rockenstein E, Mount S, et al. Axonopathy and transport deficits early in the pathogenesis of Alzheimer's disease. Science. 2005;307:1282-8 pubmed..Reductions in microtubule-dependent transport may stimulate proteolytic processing of beta-amyloid precursor protein, resulting in the development of senile plaques and Alzheimer's disease. ..
- Rao M, Engle L, Mohan P, Yuan A, Qiu D, Cataldo A, et al. Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density. J Cell Biol. 2002;159:279-90 pubmed
- 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
- Millecamps S, Gowing G, Corti O, Mallet J, Julien J. Conditional NF-L transgene expression in mice for in vivo analysis of turnover and transport rate of neurofilaments. J Neurosci. 2007;27:4947-56 pubmed..These results provide in vivo evidence that the stationary NF network in axons is a key determinant of half-life and transport rate of NF proteins. ..
- Elder G, Friedrich V, Bosco P, Kang C, Gourov A, Tu P, et al. Absence of the mid-sized neurofilament subunit decreases axonal calibers, levels of light neurofilament (NF-L), and neurofilament content. J Cell Biol. 1998;141:727-39 pubmed..These studies suggest that the NF-M subunit is a major regulator of the level of NF-L and that its presence is required to achieve maximal axonal diameter in all size classes of myelinated axons. ..
- Sommer L, Shah N, Rao M, Anderson D. The cellular function of MASH1 in autonomic neurogenesis. Neuron. 1995;15:1245-58 pubmed..Moreover, they suggest that MASH1 does not commit multipotent cells to a neural fate, like its Drosophila achaete-scute counterparts, but rather promotes the differentiation of a committed neuronal precursor. ..
- Leung C, Sun D, Liem R. The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons. J Cell Biol. 1999;144:435-46 pubmed..Since peripherin and BPAG1-n also display similar expression patterns in the nervous system, we suggest that peripherin is the specific interaction partner of BPAG1-n in vivo. ..
- Ashby P, Wilson S, Harris A. Formation of primary and secondary myotubes in aneural muscles in the mouse mutant peroneal muscular atrophy. Dev Biol. 1993;156:519-28 pubmed
- Zhai J, Lin H, Julien J, Schlaepfer W. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. Hum Mol Genet. 2007;16:3103-16 pubmed..and small heat-shock protein B1 (HSPB1) cause autosomal-dominant axonal Charcot-Marie-Tooth disease type 2E (CMT2E) and type 2F (CMT2F)...
- Vosseller K, Trinidad J, Chalkley R, Specht C, Thalhammer A, Lynn A, et al. O-linked N-acetylglucosamine proteomics of postsynaptic density preparations using lectin weak affinity chromatography and mass spectrometry. Mol Cell Proteomics. 2006;5:923-34 pubmed
- Banks G, Choy P, Lavidis N, Noakes P. Neuromuscular synapses mediate motor axon branching and motoneuron survival during the embryonic period of programmed cell death. Dev Biol. 2003;257:71-84 pubmed..Thus, agrin-induced synaptic specializations are required for skeletal muscle to effectively control motoneuron numbers during embryonic development. ..
- Coate T, Spita N, Zhang K, Isgrig K, Kelley M. Neuropilin-2/Semaphorin-3F-mediated repulsion promotes inner hair cell innervation by spiral ganglion neurons. elife. 2015;4: pubmed publisher..These results suggest a model in which cochlear innervation patterns by type I SGNs are determined, at least in part, through a Semaphorin-3F-mediated inhibitory signal that impedes processes from extending beyond the IHC region. ..
- Schorle H, Meier P, Buchert M, Jaenisch R, Mitchell P. Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature. 1996;381:235-8 pubmed
- Fiordelisio T, Jimenez N, Baba S, Shiba K, Hernandez Cruz A. Immunoreactivity to neurofilaments in the rodent anterior pituitary is associated with the expression of alpha 1A protein subunits of voltage-gated Ca2+ channels. J Neuroendocrinol. 2007;19:870-81 pubmed..with the exception of corticotrophs and melanotrophs) express neuronal markers, including 68-kDa neurofilaments (NF68) in an oestrogen-dependent manner...
- 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. ..
- Hsu C, Janicki S, Monteiro M. The first intron of the mouse neurofilament light gene (NF-L) increases gene expression. Brain Res Mol Brain Res. 1995;32:241-51 pubmed..The intron enhancement of NF-L expression was not promoter-specific and also occurred with the mouse sarcoma virus (MSV) LTR promoter. These data suggest intron sequences may be important in regulating NF gene expression. ..
- Liu Y, Atkinson R, Fernandez Martos C, Kirkcaldie M, Cui H, Vickers J, et al. Changes in TDP-43 expression in development, aging, and in the neurofilament light protein knockout mouse. Neurobiol Aging. 2015;36:1151-9 pubmed publisher..However, altered phosphorylation of TDP-43 may be more highly associated with aging than the levels of TDP-43 expression. ..
- Mathieu J, Ma D, Descarries L, Vallee A, Parent A, Julien J, et al. CNS distribution and overexpression of neurofilament light proteins (NF-L) in mice transgenic for the human NF-L: aberrant accumulation in thalamic perikarya. Exp Neurol. 1995;132:134-46 pubmed..It was compatible with prolonged survival of the animal and could provide a new experimental model of neurodegenerative disease. ..
- Rahner N, Holzmann C, Kruger R, Schols L, Berger K, Riess O. Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease. Brain Res. 2002;951:82-6 pubmed..Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD. ..
- 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. ..
- Knoll B, Zarbalis K, Wurst W, Drescher U. A role for the EphA family in the topographic targeting of vomeronasal axons. Development. 2001;128:895-906 pubmed..In summary, these data, which are derived from in vitro and in vivo experiments, indicate an important role of the EphA family in setting up the vomeronasal projection. ..
- Sheppard A, Onken M, Rosen G, Noakes P, Dean D. Expanding roles for alpha 4 integrin and its ligands in development. Cell Adhes Commun. 1994;2:27-43 pubmed..Finally, based on their patterns of expression, we conclude that VCAM-1 only participates in a subset of interactions involving alpha 4 integrins, whereas FN appears to be the more general ligand. ..
- Park D, Xiang A, Mao F, Zhang L, Di C, Liu X, et al. Nestin is required for the proper self-renewal of neural stem cells. Stem Cells. 2010;28:2162-71 pubmed publisher..These data demonstrate that nestin is important for the proper survival and self-renewal of NSCs, and that this function is surprisingly uncoupled from nestin's structural involvement in the cytoskeleton...
- Kim N, Jeong M, Choi S, Hoon Kang J. Oxidative modification of neurofilament-L by the Cu,Zn-superoxide dismutase and hydrogen peroxide system. Biochimie. 2004;86:553-9 pubmed..This study suggests that copper-mediated NF-L modification may be closely related to oxidative reactions which play a critical role in neurodegenerative diseases. ..
- Nock C, Gauss C, Schalkwyk L, Klose J, Lehrach H, Himmelbauer H. Technology development at the interface of proteome research and genomics: mapping nonpolymorphic proteins on the physical map of mouse chromosomes. Electrophoresis. 1999;20:1027-32 pubmed..This technology therefore is able to draw links between proteins detected by 2-D gel electrophoresis and the corresponding gene loci in the mouse genome. ..
- Bally Cuif L, Cholley B, Wassef M. Involvement of Wnt-1 in the formation of the mes/metencephalic boundary. Mech Dev. 1995;53:23-34 pubmed
- Frankel W, Valenzuela A, Lutz C, Johnson E, Dietrich W, Coffin J. New seizure frequency QTL and the complex genetics of epilepsy in EL mice. Mamm Genome. 1995;6:830-8 pubmed..Our studies highlight the importance of gene interaction in some complex mammalian traits defined by natural variation. ..
- Rhee S, Kim E, Yoon S, Yang S, Okumoto M, Han S, et al. Fine localization of Nefl and Nef3 and its exclusion as candidate gene for lens rupture 2(lr2). Exp Anim. 2004;53:295-301 pubmed..Components of neurofilament proteins, neurofilament light polypeptide (Nefl) and neurofilament3 medium (Nef3), were linked to D14Mit87 which was not separated from the lr2 ..
- Rutherford N, Brooks M, Riffe C, Gorion K, Howard J, Dhillon J, et al. Prion-like transmission of α-synuclein pathology in the context of an NFL null background. Neurosci Lett. 2017;661:114-120 pubmed publisher..the effects of ablating the obligate subunit of neurofilaments, low molecular mass neurofilament subunit (NFL), on disease phenotypes in transgenic mouse models of Alzheimer's disease and tauopathy...
- Yokoyama K, Tezuka T, Kotani M, Nakazawa T, Hoshina N, Shimoda Y, et al. NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons. EMBO J. 2011;30:4739-54 pubmed publisher..In conclusion, the NYAPs activate PI3K and concomitantly recruit the downstream effector WAVE complex to the close vicinity of PI3K and regulate neuronal morphogenesis. ..
- Julien J, Tretjakoff I, Beaudet L, Peterson A. Expression and assembly of a human neurofilament protein in transgenic mice provide a novel neuronal marking system. Genes Dev. 1987;1:1085-95 pubmed..Finally, immunohistochemical localization of the human NF-L protein results in the specific staining of neurons and their processes in transgenic mice. ..
- Peters L, Eicher E, Azim A, Chishti A. The gene encoding the erythrocyte membrane skeleton protein dematin (Epb4.9) maps to mouse chromosome 14. Genomics. 1995;26:634-5 pubmed
- Kambouris M, Triarhou L, Dlouhy S, Sangameswaran L, Luo F, Ghetti B, et al. Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library. Brain Res Mol Brain Res. 1994;25:183-91 pubmed..The GCAP clones should be useful for future studies of molecular biology of GC in normal individuals and in inherited neurologic disease with GC degeneration. ..
- Puschel A, Westerfield M, Dressler G. Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish. Mech Dev. 1992;38:197-208 pubmed..Our results confirm that Pax genes are highly conserved both in sequences and in expression patterns, indicating that they may have a function during early development that has been conserved during vertebrate evolution. ..
- Gilley J, Adalbert R, Yu G, Coleman M. Rescue of peripheral and CNS axon defects in mice lacking NMNAT2. J Neurosci. 2013;33:13410-24 pubmed publisher..A requirement for NMNAT2 for both axon growth and maintenance suggests that reduced levels could impair axon regeneration as well as axon survival in aging and disease. ..
- 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...
- Dahlstrand J, Lardelli M, Lendahl U. Nestin mRNA expression correlates with the central nervous system progenitor cell state in many, but not all, regions of developing central nervous system. Brain Res Dev Brain Res. 1995;84:109-29 pubmed
- Kanadia R, Clark V, Punzo C, Trimarchi J, Cepko C. Temporal requirement of the alternative-splicing factor Sfrs1 for the survival of retinal neurons. Development. 2008;135:3923-33 pubmed publisher..Our results highlight the requirement of Sfrs1-mediated alternative splicing for the survival of retinal neurons, with sensitivity defined by the window of time in which the neuron was generated. ..
- 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...
- 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. ..
- Messéant J, Dobbertin A, Girard E, Delers P, Manuel M, Mangione F, et al. MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance. J Neurosci. 2015;35:4926-41 pubmed publisher..Together, our data reveal that MuSK CRD is critical for NMJ formation and plays an unsuspected role in NMJ maintenance in adulthood. ..
- Nelms K, Snow A, Hu Li J, Paul W. FRIP, a hematopoietic cell-specific rasGAP-interacting protein phosphorylated in response to cytokine stimulation. Immunity. 1998;9:13-24 pubmed..FRIP expression is significantly reduced in T cells from hr/hr mice. FRIP may negatively regulate proliferation by acting as an adapter molecule between rasGAP and receptor complexes. ..
- Schmidt M, Huber L, Majdazari A, Schutz G, Williams T, Rohrer H. The transcription factors AP-2? and AP-2? are required for survival of sympathetic progenitors and differentiated sympathetic neurons. Dev Biol. 2011;355:89-100 pubmed publisher..Whereas AP-2?/? transcription factors are in vivo not required for the onset or maintenance of noradrenergic differentiation, their essential survival functions are demonstrated for sympathetic progenitors and noradrenergic neurons. ..
- Zhao J, Brown K, Liem R. Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model. PLoS ONE. 2017;12:e0180038 pubmed publisher..Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of ..
- Yamagata T, Momoi M, Yanagisawa M, Kumagai H, Yamakado M, Momoi T. Changes of the expression and distribution of retinoic acid receptors during neurogenesis in mouse embryos. Brain Res Dev Brain Res. 1994;77:163-76 pubmed..The distribution of RAR-alpha- or -beta-positive cells were consistent with the neurogenesis during development in the spinal cord and brain. ..
- Kure R, Ivanov T, Brown I. Characterization of DNase I hypersensitive sites in the mouse 68-kDa neurofilament gene. Neurochem Res. 1996;21:713-22 pubmed..The presence of brain-specific gel shift bands and tissue-specific footprints associated with HSS4, suggest that this region may play an important role in the regulation of the NF-L gene. ..
- Tang W, Zhang Y, Chang Q, Ahmad S, Dahlke I, Yi H, et al. Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice. J Neurosci. 2006;26:1991-9 pubmed..Our findings demonstrated the requirement of Cx29 for normal cochlear functions and suggest that Cx29 is a new candidate gene for studying the auditory neuropathy. ..
- Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science. 2006;312:1802-5 pubmed publisher..Mice lacking Dok-7 formed neither acetylcholine receptor clusters nor neuromuscular synapses. Thus, Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK...
- Deussing J, Roth W, Rommerskirch W, Wiederanders B, Von Figura K, Peters C. The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes. Mamm Genome. 1997;8:241-5 pubmed
- Mao C, Wang S, Pan P, Klein W. Rewiring the retinal ganglion cell gene regulatory network: Neurod1 promotes retinal ganglion cell fate in the absence of Math5. Development. 2008;135:3379-88 pubmed publisher..We conclude that, although Neurod1 and Math3 have evolved specialized functions for establishing amacrine cell fate, they are nevertheless capable of alternative functions when expressed in foreign environments. ..
- Cifuentes Diaz C, Goudou D, Padilla F, Facchinetti P, Nicolet M, Mege R, et al. M-cadherin distribution in the mouse adult neuromuscular system suggests a role in muscle innervation. Eur J Neurosci. 1996;8:1666-76 pubmed..M-cadherin might be involved not only in specific steps of myogenesis but also in some aspects of synaptogenesis, axon/Schwann cell interactions and node of Ranvier structural maintenance. ..
- 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...
- Nakahira K, Ikenaka K, Wada K, Tamura T, Furuichi T, Mikoshiba K. Structure of the 68-kDa neurofilament gene and regulation of its expression. J Biol Chem. 1990;265:19786-91 pubmed..These data suggest that the strong promoter activity of the NF-L gene is repressed in vivo at the transcription initiation level in a tissue-specific manner. ..
- Rossel M, Loulier K, Feuillet C, Alonso S, Carroll P. Reelin signaling is necessary for a specific step in the migration of hindbrain efferent neurons. Development. 2005;132:1175-85 pubmed..In the hindbrain, reelin signaling might alter the adhesive properties of efferent neurons and their ability to respond to directional cues, as has been suggested for the migration of olfactory bulb precursors. ..
- Copeland N, Jenkins N, Harvey R. The murine homeobox genes Nkx2.3 and Nkx2.6 are located on chromosomes 19 and 14, respectively. Genomics. 1994;22:655-6 pubmed
- Lewis S, Cowan N. Genetics, evolution, and expression of the 68,000-mol-wt neurofilament protein: isolation of a cloned cDNA probe. J Cell Biol. 1985;100:843-50 pubmedA 1.2-kilobase (kb) cDNA clone (NF68) encoding the mouse 68,000-mol-wt neurofilament protein is described...
- Trokovic N, Trokovic R, Partanen J. Fibroblast growth factor signalling and regional specification of the pharyngeal ectoderm. Int J Dev Biol. 2005;49:797-805 pubmed..Our results suggest that Fgfr1 is important for localized signalling in the pharyngeal ectoderm and consequently for normal tissue interactions in the developing second branchial arch...
- Liang S, Zhao S, Mu X, Thomas T, Klein W. Novel retinal genes discovered by mining the mouse embryonic RetinalExpress database. Mol Vis. 2004;10:773-86 pubmed..The gene identification approach described here demonstrates the usefulness of establishing large cDNA/EST databases from highly specialized neuronal tissues such as the retina to find novel genes. ..
- Julien J, Cote F, Beaudet L, Sidky M, Flavell D, Grosveld F, et al. Sequence and structure of the mouse gene coding for the largest neurofilament subunit. Gene. 1988;68:307-14 pubmed..The nfh gene shares two common intron positions with the nfl and nfm genes, but has an additional intron that occurs at a location equivalent to one of the introns in non-..
- Somerville M, McLachlan D, Percy M. Localization of the 68,000-Da human neurofilament gene (NF68) using a murine cDNA probe. Genome. 1988;30:499-500 pubmedA recent investigation, using a human genomic probe, has indicated that the 68,000 dalton neurofilament gene (NF68) is on the short arm of chromosome 8...
- Nguyen M, Shu T, Sanada K, Lariviere R, Tseng H, Park S, et al. A NUDEL-dependent mechanism of neurofilament assembly regulates the integrity of CNS neurons. Nat Cell Biol. 2004;6:595-608 pubmed..Furthermore, variations in levels of NUDEL correlate with disease progression and NF defects in a mouse model of neurodegeneration. Thus, NUDEL contributes to the integrity of CNS neurons by regulating NF assembly. ..
- Kim E, Rhee S, Bae Y, Okumoto M, Yoon J, Song C, et al. Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2. Cytogenet Genome Res. 2007;116:12-7 pubmed..There was no mutation cosegregating with the phenotype of CXSD mice, which excluded these genes as the lr2 gene. Identification of more transcripts from this region and their mutation analyses are required to isolate the lr2 gene. ..
- Bespalova I, Farjo Q, Mortlock D, Jackson A, Meisler M, Swaroop A, et al. Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14. Mamm Genome. 1993;4:618-20 pubmed
- Nie Z, Wu J, Zhai J, Lin H, Ge W, Schlaepfer W, et al. Untranslated element in neurofilament mRNA has neuropathic effect on motor neurons of transgenic mice. J Neurosci. 2002;22:7662-70 pubmed..Our results suggest that neuropathic effects of overexpressing NF-L can occur at the level of transgene RNA and are mediated by sequences in the NF-L 3' UTR. ..
- Khalyfa A, Bourbeau D, Chen E, Petroulakis E, Pan J, Xu S, et al. Characterization of elongation factor-1A (eEF1A-1) and eEF1A-2/S1 protein expression in normal and wasted mice. J Biol Chem. 2001;276:22915-22 pubmed
- Gentil B, Minotti S, Beange M, Baloh R, Julien J, Durham H. Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. FASEB J. 2012;26:1194-203 pubmed publisher..Overall, the data point to important functions of neurofilaments in mitochondrial dynamics as well as primary involvement in CMT2E/1F.
- Formstone C, Moxon C, Murdoch J, Little P, Mason I. Basal enrichment within neuroepithelia suggests novel function(s) for Celsr1 protein. Mol Cell Neurosci. 2010;44:210-22 pubmed publisher..Together, these data raise compelling new questions concerning the role of Celsr1 during neural development. ..
- Chen J, Nakata T, Zhang Z, Hirokawa N. The C-terminal tail domain of neurofilament protein-H (NF-H) forms the crossbridges and regulates neurofilament bundle formation. J Cell Sci. 2000;113 Pt 21:3861-9 pubmed..The last 191 amino acids of the C-terminal tail domain of NF-H play a key role in crossbridge formation. ..