{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:11:17Z","timestamp":1792033877921,"version":"4.4.0"},"reference-count":213,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T00:00:00Z","timestamp":1702857600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>\n                    Neurofilaments (NFs) are the most abundant component of mature neurons, that interconnect with actin and microtubules to form the cytoskeleton. Specifically expressed in the nervous system, NFs present the particularity within the Intermediate Filament family of being formed by four subunits, the neurofilament light (NF-L), medium (NF-M), heavy (NF-H) proteins and \u03b1-internexin or peripherin. Here, we review the current knowledge on NF proteins and neurofilaments, from their domain structures and their model of assembly to the dynamics of their transport and degradation along the axon. The formation of the filament and its behaviour are regulated by various determinants, including post-transcriptional (miRNA and RBP proteins) and post-translational (phosphorylation and ubiquitination) modifiers. Altogether, the complex set of modifications enable the neuron to establish a stable but elastic NF array constituting the structural scaffold of the axon, while permitting the local expression of NF proteins and providing the dynamics necessary to fulfil local demands and respond to stimuli and injury. Thus, in addition to their roles in mechano-resistance, radial axonal outgrowth and nerve conduction, NFs control microtubule dynamics, organelle distribution and neurotransmission at the synapse. We discuss how the studies of neurodegenerative diseases with NF aggregation shed light on the biology of NFs. In particular, the\n                    <jats:italic>NEFL<\/jats:italic>\n                    and\n                    <jats:italic>NEFH<\/jats:italic>\n                    genes are mutated in Charcot-Marie-Tooth (CMT) disease, the most common inherited neurological disorder of the peripheral nervous system. The clinical features of the CMT forms (axonal CMT2E, CMT2CC; demyelinating CMT1F; intermediate I-CMT) with symptoms affecting the central nervous system (CNS) will allow us to further investigate the physiological roles of NFs in the brain. Thus, NF-CMT mouse models exhibit various degrees of sensory-motor deficits associated with CNS symptoms. Cellular systems brought findings regarding the dominant effect of NF-L mutants on NF aggregation and transport, although these have been recently challenged. Neurofilament detection without NF-L in recessive CMT is puzzling, calling for a re-examination of the current model in which NF-L is indispensable for NF assembly. Overall, we discuss how the fundamental and translational fields are feeding each-other to increase but also challenge our knowledge of NF biology, and to develop therapeutic avenues for CMT and neurodegenerative diseases with NF aggregation.\n                  <\/jats:p>","DOI":"10.3389\/fcell.2023.1275155","type":"journal-article","created":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T07:06:38Z","timestamp":1702883198000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":36,"title":["Neurofilaments in health and Charcot-Marie-Tooth disease"],"prefix":"10.3389","volume":"11","author":[{"given":"Farah","family":"Kotaich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Caillol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Bomont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,12,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1038\/jhg.2008.13","article-title":"Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype","volume":"54","author":"Abe","year":"2009","journal-title":"J. Hum. Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1093\/hmg\/ddi452","article-title":"A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes","volume":"15","author":"Ackerley","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1083\/jcb.200303138","article-title":"Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments","volume":"161","author":"Ackerley","year":"2003","journal-title":"J. Cell Biol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1093\/hmg\/ddu736","article-title":"Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype","volume":"24","author":"Adebola","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1001\/jamaneurol.2014.1432","article-title":"Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings","volume":"71","author":"Agrawal","year":"2014","journal-title":"JAMA Neurol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"6625","DOI":"10.1523\/JNEUROSCI.3829-08.2009","article-title":"Myosin Va increases the efficiency of neurofilament transport by decreasing the duration of long-term pauses","volume":"29","author":"Alami","year":"2009","journal-title":"J. Neurosci."},{"key":"B7","doi-asserted-by":"publisher","first-page":"15320","DOI":"10.1523\/JNEUROSCI.3266-11.2011","article-title":"Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy","volume":"31","author":"Almeida-Souza","year":"2011","journal-title":"J. Neurosci."},{"key":"B8","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/s10038-022-01019-y","article-title":"An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families","volume":"67","author":"Ando","year":"2022","journal-title":"J. Hum. Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1101\/gad.13.4.449","article-title":"ELAV tumor antigen, Hel-N1, increases translation of neurofilament M mRNA and induces formation of neurites in human teratocarcinoma cells","volume":"13","author":"Antic","year":"1999","journal-title":"Genes Dev."},{"key":"B10","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1111\/jns.12454","article-title":"Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH","volume":"26","author":"Aruta","year":"2021","journal-title":"J. Peripher Nerv. Syst."},{"key":"B11","doi-asserted-by":"publisher","first-page":"12016","DOI":"10.1073\/pnas.0802261105","article-title":"Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration","volume":"105","author":"Balastik","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.303","article-title":"Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis","volume":"67","author":"Benedetti","year":"2010","journal-title":"Arch. Neurol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1655","DOI":"10.1007\/s00415-017-8474-3","article-title":"Intermediate Charcot\u2013Marie\u2013Tooth disease: an electrophysiological reappraisal and systematic review","volume":"264","author":"Berciano","year":"2017","journal-title":"J. Neurol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1007\/s00415-015-7709-4","article-title":"NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype","volume":"262","author":"Berciano","year":"2015","journal-title":"J. Neurol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1007\/s00415-015-7985-z","article-title":"NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype","volume":"263","author":"Berciano","year":"2016","journal-title":"J. Neurol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1016\/j.jocn.2008.08.030","article-title":"The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy","volume":"16","author":"Bhagavati","year":"2009","journal-title":"J. Clin. Neurosci."},{"key":"B17","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1159\/000487754","article-title":"Whole-genome linkage analysis with whole-exome sequencing identifies a novel frameshift variant in NEFH in a Chinese family with charcot-marie-tooth 2: a novel variant in NEFH for charcot-marie-tooth 2","volume":"18","author":"Bian","year":"2018","journal-title":"Neurodegener. Dis."},{"key":"B18","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/s00418-013-1108-7","article-title":"Topographic regulation of neuronal intermediate filaments by phosphorylation, role of peptidyl-prolyl isomerase 1: significance in neurodegeneration","volume":"140","author":"Binukumar","year":"2013","journal-title":"Histochem Cell Biol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1083\/jcb.86.2.616","article-title":"Slow components of axonal transport: two cytoskeletal networks","volume":"86","author":"Black","year":"1980","journal-title":"J. Cell Biol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"11043","DOI":"10.1523\/JNEUROSCI.1924-09.2009","article-title":"Neurofilaments bind tubulin and modulate its polymerization","volume":"29","author":"Bocquet","year":"2009","journal-title":"J. Neurosci."},{"key":"B21","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/81701","article-title":"The gene encoding gigaxonin, a new member of the cytoskeletal BTB\/kelch repeat family, is mutated in giant axonal neuropathy","volume":"26","author":"Bomont","year":"2000","journal-title":"Nat. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/bs.mie.2015.07.009","article-title":"Degradation of the intermediate filament family by gigaxonin","volume":"569","author":"Bomont","year":"2016","journal-title":"Methods Enzymol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1080\/15548627.2019.1628546","article-title":"GAN (gigaxonin) E3 ligase and ATG16L1: master and commander of autophagosome production","volume":"15","author":"Bomont","year":"2019","journal-title":"Autophagy"},{"key":"B24","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.ceb.2020.10.011","article-title":"The dazzling rise of neurofilaments: physiological functions and roles as biomarkers","volume":"68","author":"Bomont","year":"2021","journal-title":"Curr. Opin. Cell Biol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/cm.21597","article-title":"Intermediate filaments in developing neurons: beyond structure","volume":"77","author":"Bott","year":"2020","journal-title":"Cytoskelet. Hob."},{"key":"B26","doi-asserted-by":"publisher","first-page":"bio028795","DOI":"10.1242\/bio.028795","article-title":"Assembly and turnover of neurofilaments in growing axonal neurites","volume":"7","author":"Boumil","year":"2018","journal-title":"Biol. Open"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1523\/ENEURO.0138-22.2022","article-title":"Neurofilament transport is bidirectional in vivo","volume":"9","author":"Boyer","year":"2022","journal-title":"eNeuro"},{"key":"B28","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/cm.21083","article-title":"A critical reevaluation of the stationary axonal cytoskeleton hypothesis","volume":"70","author":"Brown","year":"2013","journal-title":"Cytoskelet. Hob."},{"key":"B29","doi-asserted-by":"publisher","first-page":"2837","DOI":"10.1093\/hmg\/11.23.2837","article-title":"Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport","volume":"11","author":"Brownlees","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1756-6606-6-26","article-title":"Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels","volume":"6","author":"Campos-Melo","year":"2013","journal-title":"Mol. Brain"},{"key":"B31","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/s13041-018-0386-3","article-title":"Dysregulation of human NEFM and NEFH mRNA stability by ALS-linked miRNAs","volume":"11","author":"Campos-Melo","year":"2018","journal-title":"Mol. Brain"},{"key":"B32","doi-asserted-by":"publisher","first-page":"4353","DOI":"10.1523\/JNEUROSCI.0885-05.2005","article-title":"Aldolases A and C are ribonucleolytic components of a neuronal complex that regulates the stability of the light-neurofilament mRNA","volume":"25","author":"Ca\u00f1ete-Soler","year":"2005","journal-title":"J. Neurosci."},{"key":"B33","doi-asserted-by":"publisher","first-page":"5101","DOI":"10.1074\/jbc.273.9.5101","article-title":"Neurofilament (NF) assembly; divergent characteristics of human and rodent NF-L subunits","volume":"273","author":"Carter","year":"1998","journal-title":"J. Biol. Chem."},{"key":"B34","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.neuroscience.2012.10.011","article-title":"Axonal regeneration is compromised in NFH-LacZ transgenic mice but not in NFH-GFP mice","volume":"228","author":"Cassereau","year":"2013","journal-title":"Neuroscience"},{"key":"B35","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.jfma.2022.08.008","article-title":"Clinical and genetic characterization of NEFL-related neuropathy in Taiwan","volume":"122","author":"Chao","year":"2023","journal-title":"J. Formos. Med. Assoc."},{"key":"B36","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.ceb.2014.12.007","article-title":"Intermediate filament structure: the bottom-up approach","volume":"32","author":"Chernyatina","year":"2015","journal-title":"Curr. Opin. Cell Biol."},{"key":"B37","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1083\/jcb.122.6.1323","article-title":"Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments","volume":"122","author":"Ching","year":"1993","journal-title":"J. Cell Biol."},{"key":"B38","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1002\/humu.22143","article-title":"Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease","volume":"33","author":"Choi","year":"2012","journal-title":"Hum. Mutat."},{"key":"B39","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1002\/humu.9261","article-title":"Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients","volume":"24","author":"Choi","year":"2004","journal-title":"Hum. Mutat."},{"key":"B40","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1083\/jcb.200809166","article-title":"Intermediate filaments exchange subunits along their length and elongate by end-to-end annealing","volume":"185","author":"Colako\u011flu","year":"2009","journal-title":"J. Cell Biol."},{"key":"B41","doi-asserted-by":"publisher","first-page":"3279","DOI":"10.1242\/jcs.108.10.3279","article-title":"Peripherin assembles into homopolymers in SW13 cells","volume":"108","author":"Cui","year":"1995","journal-title":"J. Cell Sci."},{"key":"B42","doi-asserted-by":"publisher","first-page":"15742","DOI":"10.3390\/ijms232415742","article-title":"The J domain of Sacsin disrupts intermediate filament assembly","volume":"23","author":"Dabbaghizadeh","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"B43","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2012\/382107","article-title":"Neurofilament phosphorylation during development and disease: which came first, the phosphorylation or the accumulation?","author":"Dale","year":"2012","journal-title":"J. Amino Acids"},{"key":"B44","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1111\/j.1601-183X.2012.00771.x","article-title":"Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E","volume":"11","author":"Dale","year":"2012","journal-title":"Genes Brain Behav."},{"key":"B45","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1002\/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a","article-title":"Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E","volume":"49","author":"De Jonghe","year":"2001","journal-title":"Ann. Neurol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"2616","DOI":"10.1093\/hmg\/ddq149","article-title":"Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E","volume":"19","author":"Dequen","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"B47","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s13024-019-0318-4","article-title":"The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders","volume":"14","author":"Didonna","year":"2019","journal-title":"Mol. Neurodegener."},{"key":"B48","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/BF01674207","article-title":"Abnormalities of the axonal cytoskeleton in giant axonal neuropathy","volume":"17","author":"Donaghy","year":"1988","journal-title":"J. Neurocytol."},{"key":"B49","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1002\/mus.25410","article-title":"Painful Charcot-Marie-Tooth neuropathy type 2E\/1F due to a novel NEFL mutation","volume":"55","author":"Doppler","year":"2017","journal-title":"Muscle Nerve"},{"key":"B50","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1002\/mgg3.126","article-title":"Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing","volume":"3","author":"Drew","year":"2015","journal-title":"Mol. Genet. Genomic Med."},{"key":"B51","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1523\/JNEUROSCI.18-02-00720.1998","article-title":"Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments","volume":"18","author":"Ehlers","year":"1998","journal-title":"J. Neurosci."},{"key":"B52","doi-asserted-by":"publisher","first-page":"335","DOI":"10.5414\/NP300742","article-title":"Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E","volume":"33","author":"Elbracht","year":"2014","journal-title":"Clin. Neuropathol."},{"key":"B53","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1083\/jcb.141.3.727","article-title":"Absence of the mid-sized neurofilament subunit decreases axonal calibers, levels of light neurofilament (NF-L), and neurofilament content","volume":"141","author":"Elder","year":"1998","journal-title":"J. Cell Biol."},{"key":"B54","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1172\/JCI38339","article-title":"Introducing intermediate filaments: from discovery to disease","volume":"119","author":"Eriksson","year":"2009","journal-title":"J. Clin. Invest."},{"key":"B55","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1038\/ng1354","article-title":"Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy","volume":"36","author":"Evgrafov","year":"2004","journal-title":"Nat. Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/0896-6273(94)90280-1","article-title":"Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein","volume":"12","author":"Eyer","year":"1994","journal-title":"Neuron"},{"key":"B57","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1002\/(SICI)1097-4547(19971015)50:2<291::AID-JNR17>3.0.CO;2-B","article-title":"Transient expression of the neurofilament proteins NF-L and NF-M by Schwann cells is regulated by axonal contact","volume":"50","author":"Fabrizi","year":"1997","journal-title":"J. Neurosci. Res."},{"key":"B58","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1212\/01.wnl.0000120664.07186.3c","article-title":"Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E","volume":"62","author":"Fabrizi","year":"2004","journal-title":"Neurology"},{"key":"B59","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1093\/brain\/awl284","article-title":"Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton","volume":"130","author":"Fabrizi","year":"2007","journal-title":"Brain"},{"key":"B60","doi-asserted-by":"publisher","first-page":"723023","DOI":"10.3389\/fcell.2021.723023","article-title":"Allele-specific gene editing rescues pathology in a human model of charcot-marie-tooth disease type 2E","volume":"9","author":"Feliciano","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"B61","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1002\/cm.21411","article-title":"Kymograph analysis with high temporal resolution reveals new features of neurofilament transport kinetics","volume":"75","author":"Fenn","year":"2018","journal-title":"Cytoskelet. Hob."},{"key":"B62","doi-asserted-by":"publisher","DOI":"10.1523\/ENEURO.0029-23.2023","article-title":"The mobility of neurofilaments in mature myelinated axons of adult mice","volume":"10","author":"Fenn","year":"2023","journal-title":"eNeuro"},{"key":"B63","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.bbr.2010.12.022","article-title":"Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E","volume":"219","author":"Filali","year":"2011","journal-title":"Behav. Brain Res."},{"key":"B64","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.nmd.2017.09.018","article-title":"A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot\u2013Marie\u2013Tooth disease","volume":"28","author":"Fu","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"B65","doi-asserted-by":"publisher","first-page":"1975","DOI":"10.1093\/brain\/awaa098","article-title":"Neurofilaments: neurobiological foundations for biomarker applications","volume":"143","author":"Gafson","year":"2020","journal-title":"Brain"},{"key":"B66","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/1750-1326-6-25","article-title":"Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice","volume":"6","author":"Ganay","year":"2011","journal-title":"Mol. Neurodegener."},{"key":"B67","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1083\/jcb.200308159","article-title":"NF-M is an essential target for the myelin-directed \u201coutside-in\u201d signaling cascade that mediates radial axonal growth","volume":"163","author":"Garcia","year":"2003","journal-title":"J. Cell Biol."},{"key":"B68","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.1523\/JNEUROSCI.3765-08.2009","article-title":"Phosphorylation of highly conserved neurofilament medium KSP repeats is not required for myelin-dependent radial axonal growth","volume":"29","author":"Garcia","year":"2009","journal-title":"J. Neurosci."},{"key":"B69","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/0022-2836(81)90011-5","article-title":"Self-assembly in vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments","volume":"151","author":"Geisler","year":"1981","journal-title":"J. Mol. Biol."},{"key":"B70","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1096\/fj.11-196345","article-title":"Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease","volume":"26","author":"Gentil","year":"2012","journal-title":"FASEB J."},{"key":"B71","doi-asserted-by":"publisher","first-page":"1499","DOI":"10.1016\/j.biocel.2013.04.009","article-title":"Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol","volume":"45","author":"Gentil","year":"2013","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"B72","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/s10048-002-0138-4","article-title":"A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family","volume":"4","author":"Georgiou","year":"2002","journal-title":"Neurogenetics"},{"key":"B73","doi-asserted-by":"publisher","first-page":"2472","DOI":"10.1046\/j.1471-4159.1994.62062472.x","article-title":"Calcium-mediated degeneration of the axonal cytoskeleton in the Ola mouse","volume":"62","author":"Glass","year":"1994","journal-title":"J. Neurochem."},{"key":"B74","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1006\/bbrc.1993.2629","article-title":"Osmotic stress is the main determinant of the diameter of the actin filament","volume":"197","author":"Grazi","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"B75","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1080\/15548627.2019.1569930","article-title":"Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1\/p62 bodies","volume":"15","author":"Haidar","year":"2019","journal-title":"Autophagy"},{"key":"B76","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1111\/jns.12102","article-title":"Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs","volume":"19","author":"Hashiguchi","year":"2014","journal-title":"J. Peripher Nerv. Syst."},{"key":"B77","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1083\/jcb.200407191","article-title":"Role of cytoplasmic dynein in the axonal transport of microtubules and neurofilaments","volume":"168","author":"He","year":"2005","journal-title":"J. Cell Biol."},{"key":"B78","doi-asserted-by":"publisher","first-page":"a018242","DOI":"10.1101\/cshperspect.a018242","article-title":"Intermediate filaments: structure and assembly","volume":"8","author":"Herrmann","year":"2016","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"B79","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1006\/jmbi.1996.0688","article-title":"Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domains","volume":"264","author":"Herrmann","year":"1996","journal-title":"J. Mol. Biol."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1172\/JCI38214","article-title":"Intermediate filaments: primary determinants of cell architecture and plasticity","volume":"119","author":"Herrmann","year":"2009","journal-title":"J. Clin. Invest."},{"key":"B81","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1083\/jcb.94.1.129","article-title":"Cross-linker system between neurofilaments, microtubules, and membranous organelles in frog axons revealed by the quick-freeze, deep-etching method","volume":"94","author":"Hirokawa","year":"1982","journal-title":"J. Cell Biol."},{"key":"B82","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/0022-2836(88)90459-7","article-title":"Structure of the peripheral domains of neurofilaments revealed by low angle rotary shadowing","volume":"202","author":"Hisanaga","year":"1988","journal-title":"J. Mol. Biol."},{"key":"B83","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/s00401-013-1133-6","article-title":"Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments","volume":"126","author":"Holmgren","year":"2013","journal-title":"Acta Neuropathol."},{"key":"B84","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1111\/j.1529-8027.2012.00434.x","article-title":"Neurofilament phosphorylation and their proline-directed kinases in health and disease","volume":"17","author":"Holmgren","year":"2012","journal-title":"J. Peripher Nerv. Syst."},{"key":"B85","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1136\/jnnp-2016-315077","article-title":"Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease","volume":"88","author":"Horga","year":"2017","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"B86","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1016\/j.nmd.2019.02.007","article-title":"Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family","volume":"29","author":"Ikenberg","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"B87","doi-asserted-by":"publisher","first-page":"e85653","DOI":"10.1371\/journal.pone.0085653","article-title":"Analysis of novel NEFL mRNA targeting microRNAs in amyotrophic lateral sclerosis","volume":"9","author":"Ishtiaq","year":"2014","journal-title":"PLoS ONE"},{"key":"B88","doi-asserted-by":"publisher","first-page":"2143","DOI":"10.1093\/hmg\/ddw081","article-title":"Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy","volume":"25","author":"Israeli","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"B89","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1046\/j.1471-4159.1999.0730972.x","article-title":"Disruption of type IV intermediate filament network in mice lacking the neurofilament medium and heavy subunits","volume":"73","author":"Jacomy","year":"1999","journal-title":"J. Neurochem."},{"key":"B90","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1186\/s40478-017-0457-1","article-title":"Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death","volume":"5","author":"Jacquier","year":"2017","journal-title":"Acta Neuropathol. Commun."},{"key":"B91","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1093\/brain\/awg059","article-title":"Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease","volume":"126","author":"Jordanova","year":"2003","journal-title":"Brain"},{"key":"B92","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.molbrainres.2005.08.009","article-title":"The high and middle molecular weight neurofilament subunits regulate the association of neurofilaments with kinesin: inhibition by phosphorylation of the high molecular weight subunit","volume":"141","author":"Jung","year":"2005","journal-title":"Brain Res. Mol. Brain Res."},{"key":"B93","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1002\/1097-0169(200010)47:2<120::AID-CM3>3.0.CO;2-6","article-title":"Hypophosphorylated neurofilament subunits undergo axonal transport more rapidly than more extensively phosphorylated subunits in situ","volume":"47","author":"Jung","year":"","journal-title":"Cell Motil. Cytoskelet."},{"key":"B94","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/s0006-8993(99)02314-8","article-title":"C-terminal phosphorylation of the high molecular weight neurofilament subunit correlates with decreased neurofilament axonal transport velocity","volume":"856","author":"Jung","year":"","journal-title":"Brain Res."},{"key":"B95","doi-asserted-by":"publisher","first-page":"101664","DOI":"10.1016\/j.pneurobio.2019.101664","article-title":"microRNA dysregulation in neurodegenerative diseases: a systematic review","volume":"182","author":"Ju\u017awik","year":"2019","journal-title":"Prog. Neurobiol."},{"key":"B96","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1083\/jcb.118.2.397","article-title":"Schwann cells of the myelin-forming phenotype express neurofilament protein NF-M","volume":"118","author":"Kelly","year":"1992","journal-title":"J. Cell Biol."},{"key":"B97","doi-asserted-by":"publisher","first-page":"e1870","DOI":"10.1002\/mgg3.1870","article-title":"Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease","volume":"10","author":"Kim","year":"2022","journal-title":"Mol. Genet. Genomic Med."},{"key":"B98","doi-asserted-by":"publisher","first-page":"52","DOI":"10.3988\/jcn.2021.17.1.52","article-title":"Clinical and neuroimaging features in charcot-marie-tooth patients with GDAP1 mutations","volume":"17","author":"Kim","year":"2021","journal-title":"J. Clin. Neurol."},{"key":"B99","doi-asserted-by":"publisher","first-page":"5920","DOI":"10.1523\/JNEUROSCI.22-14-05920.2002","article-title":"Neurofilament-M interacts with the D1 dopamine receptor to regulate cell surface expression and desensitization","volume":"22","author":"Kim","year":"2002","journal-title":"J. Neurosci."},{"key":"B100","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.mcn.2017.05.010","article-title":"The third wave: intermediate filaments in the maturing nervous system","volume":"84","author":"Kirkcaldie","year":"2017","journal-title":"Mol. Cell. Neurosci."},{"key":"B101","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/j.jmb.2005.09.092","article-title":"Exploring the mechanical behavior of single intermediate filaments","volume":"354","author":"Kreplak","year":"2005","journal-title":"J. Mol. Biol."},{"key":"B102","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1038\/nn.3230","article-title":"Divergent roles of ALS-linked proteins FUS\/TLS and TDP-43 intersect in processing long pre-mRNAs","volume":"15","author":"Lagier-Tourenne","year":"2012","journal-title":"Nat. Neurosci."},{"key":"B103","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.expneurol.2018.06.010","article-title":"Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E","volume":"308","author":"Lancaster","year":"2018","journal-title":"Exp. Neurol."},{"key":"B104","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1002\/neu.10270","article-title":"Functions of intermediate filaments in neuronal development and disease","volume":"58","author":"Lariviere","year":"2004","journal-title":"J. Neurobiol."},{"key":"B105","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1097\/WCO.0000000000000735","article-title":"Charcot\u2013Marie\u2013Tooth disease and related disorders: an evolving landscape","volume":"32","author":"Laur\u00e1","year":"2019","journal-title":"Curr. Opin. Neurology"},{"key":"B212","doi-asserted-by":"publisher","first-page":"868","DOI":"10.5483\/bmbrep.2008.41.12.868","article-title":"The effect of rod domain A148V mutation of neurofilament light chain on filament formation","volume":"41","author":"Lee","year":"2008","journal-title":"BMB Reports"},{"key":"B106","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1016\/0896-6273(94)90263-1","article-title":"A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease","volume":"13","author":"Lee","year":"1994","journal-title":"Neuron"},{"key":"B213","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1083\/jcb.122.6.1337","article-title":"Neurofilaments are obligate heteropolymers in vivo","volume":"122","author":"Lee","year":"1993","journal-title":"J. Cell Biol."},{"key":"B107","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1111\/jns.12310","article-title":"A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature","volume":"24","author":"Lerat","year":"2019","journal-title":"J. Peripher Nerv. Syst."},{"key":"B108","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.3389\/fphys.2020.01022","article-title":"E3 ubiquitin ligases in neurological diseases: focus on gigaxonin and autophagy","volume":"11","author":"Lescouz\u00e8res","year":"2020","journal-title":"Front. Physiol."},{"key":"B109","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1002\/ajmg.a.31242","article-title":"A novel duplication\/insertion mutation ofNEFL in a patient with Charcot-Marie-Tooth disease","author":"Leung","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"B110","doi-asserted-by":"publisher","first-page":"2689","DOI":"10.1083\/jcb.107.6.2689","article-title":"Multiple phosphorylated variants of the high molecular mass subunit of neurofilaments in axons of retinal cell neurons: characterization and evidence for their differential association with stationary and moving neurofilaments","volume":"107","author":"Lewis","year":"1988","journal-title":"J. Cell Biol."},{"key":"B111","doi-asserted-by":"publisher","first-page":"104845","DOI":"10.1016\/j.nbd.2020.104845","article-title":"A recessive Trim2 mutation causes an axonal neuropathy in mice","volume":"140","author":"Li","year":"2020","journal-title":"Neurobiol. Dis."},{"key":"B112","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.1172\/JCI38003","article-title":"Dysfunctions of neuronal and glial intermediate filaments in disease","volume":"119","author":"Liem","year":"2009","journal-title":"J. Clin. Invest."},{"key":"B113","doi-asserted-by":"publisher","first-page":"e29393","DOI":"10.1371\/journal.pone.0029393","article-title":"The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan","volume":"6","author":"Lin","year":"2011","journal-title":"PLoS One"},{"key":"B114","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1212\/wnl.61.7.988","article-title":"Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity","volume":"61","author":"Lus","year":"2003","journal-title":"Neurology"},{"key":"B115","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.nbd.2013.03.009","article-title":"Calpains mediate axonal cytoskeleton disintegration during Wallerian degeneration","volume":"56","author":"Ma","year":"2013","journal-title":"Neurobiol. Dis."},{"key":"B116","first-page":"180","article-title":"The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease","volume":"38","author":"Machado","year":"2019","journal-title":"Acta Myol."},{"key":"B117","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1002\/cpt.1718","article-title":"Human tridimensional neuronal cultures for phenotypic drug screening in inherited peripheral neuropathies","volume":"107","author":"Maciel","year":"2020","journal-title":"Clin. Pharmacol. Ther."},{"key":"B118","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1002\/cm.21679","article-title":"Posttranslational modifications of the cytoskeleton","volume":"78","author":"MacTaggart","year":"2021","journal-title":"Cytoskelet. Hob."},{"key":"B119","doi-asserted-by":"publisher","first-page":"1964","DOI":"10.1172\/JCI66387","article-title":"Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation","volume":"123","author":"Mahammad","year":"2013","journal-title":"J. Clin. Invest."},{"key":"B120","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1111\/jns.12092","article-title":"Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population","volume":"19","author":"Manganelli","year":"2014","journal-title":"J. Peripher Nerv. Syst."},{"key":"B121","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1086\/302962","article-title":"A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene","volume":"67","author":"Mersiyanova","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"B122","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1242\/jcs.105817","article-title":"14-3-3 proteins interact with neurofilament protein-L and regulate dynamic assembly of neurofilaments","volume":"126","author":"Miao","year":"2013","journal-title":"J. Cell Sci."},{"key":"B123","doi-asserted-by":"publisher","first-page":"4947","DOI":"10.1523\/JNEUROSCI.5299-06.2007","article-title":"Conditional NF-L transgene expression in mice for in vivo analysis of turnover and transport rate of neurofilaments","volume":"27","author":"Millecamps","year":"2007","journal-title":"J. Neurosci."},{"key":"B124","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1001\/archneur.64.7.966","article-title":"Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene","volume":"64","author":"Miltenberger-Miltenyi","year":"2007","journal-title":"Arch. Neurol."},{"key":"B125","doi-asserted-by":"publisher","first-page":"2979","DOI":"10.1523\/JNEUROSCI.4502-13.2014","article-title":"Local regulation of neurofilament transport by myelinating cells","volume":"34","author":"Monsma","year":"2014","journal-title":"J. Neurosci."},{"key":"B126","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1083\/jcb.129.2.411","article-title":"Two distinct functions of the carboxyl-terminal tail domain of NF-M upon neurofilament assembly: cross-bridge formation and longitudinal elongation of filaments","volume":"129","author":"Nakagawa","year":"1995","journal-title":"J. Cell Biol."},{"key":"B127","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1111\/jns.12223","article-title":"Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3\u2032 UTR in NEFH: nam et al","volume":"22","author":"Nam","year":"2017","journal-title":"J. Peripher Nerv. Syst."},{"key":"B128","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-023-01393-1","article-title":"Axonal transport defect in gigaxonin deficiency rescued by tubastatin A","author":"Nath","year":"2023","journal-title":"Neurotherapeutics"},{"key":"B129","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1007\/s12192-016-0757-6","article-title":"Interaction of small heat shock proteins with light component of neurofilaments (NFL)","volume":"22","author":"Nefedova","year":"2017","journal-title":"Cell Stress Chaperones"},{"key":"B130","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1038\/ncb1139","article-title":"A NUDEL-dependent mechanism of neurofilament assembly regulates the integrity of CNS neurons","volume":"6","author":"Nguyen","year":"2004","journal-title":"Nat. Cell Biol."},{"key":"B131","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1083\/jcb.102.2.647","article-title":"Multiple fates of newly synthesized neurofilament proteins: evidence for a stationary neurofilament network distributed nonuniformly along axons of retinal ganglion cell neurons","volume":"102","author":"Nixon","year":"1986","journal-title":"J. Cell Biol."},{"key":"B132","doi-asserted-by":"publisher","first-page":"1756","DOI":"10.1172\/JCI39894","article-title":"IF-pathies: a broad spectrum of intermediate filament-associated diseases","volume":"119","author":"Omary","year":"2009","journal-title":"J. Clin. Invest."},{"key":"B133","doi-asserted-by":"publisher","first-page":"R23","DOI":"10.1083\/jcb.78.2.r23","article-title":"Neurofilament protein is phosphorylated in the squid giant axon","volume":"78","author":"Pant","year":"1978","journal-title":"J. Cell Biol."},{"key":"B134","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.neuroscience.2013.02.033","article-title":"Mitochondrial swelling and microtubule depolymerization are associated with energy depletion in axon degeneration","volume":"238","author":"Park","year":"","journal-title":"Neuroscience"},{"key":"B135","doi-asserted-by":"publisher","first-page":"3401","DOI":"10.3969\/j.issn.1673-5374.2013.36.005","article-title":"Calcium-dependent proteasome activation is required for axonal neurofilament degradation","volume":"8","author":"Park","year":"","journal-title":"Neural Regen. Res."},{"key":"B136","doi-asserted-by":"publisher","first-page":"2207","DOI":"10.1093\/hmg\/ddh236","article-title":"Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models","volume":"13","author":"Perez-Olle","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"B137","doi-asserted-by":"publisher","first-page":"4937","DOI":"10.1242\/jcs.00148","article-title":"Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation","volume":"115","author":"Perez-Olle","year":"2002","journal-title":"J. Cell Sci."},{"key":"B138","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1111\/j.1471-4159.2005.03095.x","article-title":"Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport","volume":"93","author":"Perez-Olle","year":"2005","journal-title":"J. Neurochem."},{"key":"B139","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.brainresbull.2009.06.004","article-title":"Neuronal intermediate filaments and neurodegenerative disorders","volume":"80","author":"Perrot","year":"2009","journal-title":"Brain Res. Bull."},{"key":"B140","doi-asserted-by":"publisher","first-page":"3213","DOI":"10.1096\/fj.09-129585","article-title":"Real-time imaging reveals defects of fast axonal transport induced by disorganization of intermediate filaments","volume":"23","author":"Perrot","year":"2009","journal-title":"FASEB J."},{"key":"B141","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.ceb.2014.12.009","article-title":"Evolutionary aspects in intermediate filament proteins","volume":"32","author":"Peter","year":"2015","journal-title":"Curr. Opin. Cell Biol."},{"key":"B142","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1159\/000529706","article-title":"NEFL-related charcot-marie tooth disease due to P440L mutation in two Italian families: expanding the phenotype and defining modulating factors","volume":"86","author":"Petrucci","year":"2023","journal-title":"Eur. Neurol."},{"key":"B143","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1136\/jnnp-2021-327186","article-title":"Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype","volume":"93","author":"Pipis","year":"2022","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"B144","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","article-title":"Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges","volume":"15","author":"Pipis","year":"2019","journal-title":"Nat. Rev. Neurol."},{"key":"B145","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1083\/jcb.200308076","article-title":"The neurofilament middle molecular mass subunit carboxyl-terminal tail domains is essential for the radial growth and cytoskeletal architecture of axons but not for regulating neurofilament transport rate","volume":"163","author":"Rao","year":"2003","journal-title":"J. Cell Biol."},{"key":"B146","doi-asserted-by":"publisher","first-page":"1277","DOI":"10.1080\/15548627.2022.2124500","article-title":"Autophagy is a novel pathway for neurofilament protein degradation in vivo","volume":"19","author":"Rao","year":"2023","journal-title":"Autophagy"},{"key":"B147","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1083\/jcb.200205062","article-title":"Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density","volume":"159","author":"Rao","year":"","journal-title":"J. Cell Biol."},{"key":"B148","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1083\/jcb.200202037","article-title":"Gene replacement in mice reveals that the heavily phosphorylated tail of neurofilament heavy subunit does not affect axonal caliber or the transit of cargoes in slow axonal transport","volume":"158","author":"Rao","year":"","journal-title":"J. Cell Biol."},{"key":"B149","doi-asserted-by":"publisher","first-page":"e17087","DOI":"10.1371\/journal.pone.0017087","article-title":"The myosin Va head domain binds to the neurofilament-L rod and modulates endoplasmic reticulum (ER) content and distribution within axons","volume":"6","author":"Rao","year":"2011","journal-title":"PLoS One"},{"key":"B150","doi-asserted-by":"publisher","first-page":"e44320","DOI":"10.1371\/journal.pone.0044320","article-title":"The C-terminal domains of NF-H and NF-M subunits maintain axonal neurofilament content by blocking turnover of the stationary neurofilament network","volume":"7","author":"Rao","year":"2012","journal-title":"PLoS One"},{"key":"B151","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.ajhg.2016.02.022","article-title":"Cryptic amyloidogenic elements in the 3\u2032 UTRs of neurofilament genes trigger axonal neuropathy","volume":"98","author":"Rebelo","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B152","doi-asserted-by":"publisher","first-page":"e22886","DOI":"10.1096\/fj.202202119R","article-title":"Gigaxonin is required for intermediate filament transport","volume":"37","author":"Renganathan","year":"2023","journal-title":"FASEB J."},{"key":"B153","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1002\/jnr.490330120","article-title":"Neurofilament and tubulin mRNA expression in Schwann cells","volume":"33","author":"Roberson","year":"1992","journal-title":"J. Neurosci. Res."},{"key":"B154","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/nrneurol.2013.179","article-title":"Clinical implications of genetic advances in Charcot-Marie-Tooth disease","volume":"9","author":"Rossor","year":"2013","journal-title":"Nat. Rev. Neurol."},{"key":"B155","doi-asserted-by":"publisher","first-page":"6849","DOI":"10.1523\/JNEUROSCI.20-18-06849.2000","article-title":"Neurofilaments are transported rapidly but intermittently in axons: implications for slow axonal transport","volume":"20","author":"Roy","year":"2000","journal-title":"J. Neurosci."},{"key":"B156","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1515\/medgen-2020-2038","article-title":"Charcot-Marie-Tooth disease and hereditary motor neuropathies \u2013 update 2020","volume":"32","author":"Rudnik-Sch\u00f6neborn","year":"2020","journal-title":"Med. Genet."},{"key":"B157","doi-asserted-by":"publisher","first-page":"820105","DOI":"10.3389\/fcell.2021.820105","article-title":"Neurofilament light regulates axon caliber, synaptic activity, and organelle trafficking in cultured human motor neurons","volume":"9","author":"Sainio","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"B158","doi-asserted-by":"publisher","first-page":"e244","DOI":"10.1212\/NXG.0000000000000244","article-title":"Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy","volume":"4","author":"Sainio","year":"2018","journal-title":"Neurol. Genet."},{"key":"B159","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/0304-3940(93)90078-y","article-title":"Reduced diameter and conduction velocity of myelinated fibers in the sciatic nerve of a neurofilament-deficient mutant quail","volume":"153","author":"Sakaguchi","year":"1993","journal-title":"Neurosci. Lett."},{"key":"B160","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/j.expneurol.2014.10.005","article-title":"Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties","volume":"263","author":"Saporta","year":"2015","journal-title":"Exp. Neurol."},{"key":"B161","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.3390\/cells10081960","article-title":"Bend, push, stretch: remarkable structure and mechanics of single intermediate filaments and meshworks","volume":"10","author":"Sapra","year":"2021","journal-title":"Cells"},{"key":"B162","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1093\/hmg\/ddl011","article-title":"Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants","volume":"15","author":"Sasaki","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"B163","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1038\/s41467-019-08331-w","article-title":"Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production","volume":"10","author":"Scrivo","year":"2019","journal-title":"Nat. Commun."},{"key":"B164","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1016\/s0166-2236(00)01919-6","article-title":"Kinesin, dynein and neurofilament transport","volume":"24","author":"Shea","year":"2001","journal-title":"Trends Neurosci."},{"key":"B165","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1023\/a:1010951626090","article-title":"Microtubule motors, phosphorylation and axonal transport of neurofilaments","volume":"29","author":"Shea","year":"2000","journal-title":"J. Neurocytol."},{"key":"B166","doi-asserted-by":"publisher","first-page":"2535","DOI":"10.1093\/hmg\/ddr152","article-title":"Muscle pathology without severe nerve pathology in a new mouse model of Charcot\u2013Marie\u2013Tooth disease type 2E","volume":"20","author":"Shen","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"B167","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1007\/s10038-008-0333-8","article-title":"NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1","volume":"53","author":"Shin","year":"2008","journal-title":"J. Hum. Genet."},{"key":"B168","doi-asserted-by":"publisher","first-page":"2098","DOI":"10.1016\/j.yexcr.2007.04.010","article-title":"Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments","volume":"313","author":"Sihag","year":"2007","journal-title":"Exp. Cell Res."},{"key":"B169","doi-asserted-by":"publisher","first-page":"1617","DOI":"10.1212\/WNL.0b013e3182a9f56a","article-title":"Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series","volume":"81","author":"Sivera","year":"2013","journal-title":"Neurology"},{"key":"B170","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/cm.21676","article-title":"A review and analysis of the clinical literature on Charcot\u2013Marie\u2013Tooth disease caused by mutations in neurofilament protein L","volume":"78","author":"Stone","year":"2021","journal-title":"Cytoskeleton"},{"key":"B171","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1002\/cm.21566","article-title":"Charcot\u2013Marie\u2013Tooth disease Type 2E\/1F mutant neurofilament proteins assemble into neurofilaments","volume":"76","author":"Stone","year":"2019","journal-title":"Cytoskeleton"},{"key":"B172","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.mcn.2007.03.007","article-title":"TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein","volume":"35","author":"Strong","year":"2007","journal-title":"Mol. Cell. Neurosci."},{"key":"B173","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.brainres.2007.11.012","article-title":"Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex","volume":"1189","author":"Thyagarajan","year":"2008","journal-title":"Brain Res."},{"key":"B174","doi-asserted-by":"publisher","first-page":"49680","DOI":"10.1074\/jbc.M408915200","article-title":"Phylogenetically conserved binding of specific K homology domain proteins to the 3\u2032-untranslated region of the vertebrate middle neurofilament mRNA","volume":"279","author":"Thyagarajan","year":"2004","journal-title":"J. Biol. Chem."},{"key":"B175","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1097\/NEN.0b013e3181a5deeb","article-title":"Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion","volume":"68","author":"Tradewell","year":"2009","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"B176","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1523\/JNEUROSCI.4227-06.2007","article-title":"Neurofilaments switch between distinct mobile and stationary states during their transport along axons","volume":"27","author":"Trivedi","year":"2007","journal-title":"J. Neurosci."},{"key":"B177","doi-asserted-by":"publisher","first-page":"4997","DOI":"10.1091\/mbc.e09-04-0304","article-title":"Tight functional coupling of kinesin-1A and dynein motors in the bidirectional transport of neurofilaments","volume":"20","author":"Uchida","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"B178","doi-asserted-by":"publisher","first-page":"E2696","DOI":"10.1073\/pnas.1221835110","article-title":"Severing and end-to-end annealing of neurofilaments in neurons","volume":"110","author":"Uchida","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B179","doi-asserted-by":"publisher","first-page":"2471","DOI":"10.1093\/brain\/awab226","article-title":"Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction","volume":"144","author":"Van Lent","year":"2021","journal-title":"Brain"},{"key":"B180","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1007\/s12192-020-01101-4","article-title":"Small heat shock proteins in neurodegenerative diseases","volume":"25","author":"Vendredy","year":"2020","journal-title":"Cell Stress Chaperones"},{"key":"B181","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/j.expneurol.2018.05.009","article-title":"Internode length is reduced during myelination and remyelination by neurofilament medium phosphorylation in motor axons","volume":"306","author":"Villal\u00f3n","year":"2018","journal-title":"Exp. Neurol."},{"key":"B182","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.brainres.2015.09.024","article-title":"Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury","volume":"1627","author":"Villal\u00f3n","year":"2015","journal-title":"Brain Res."},{"key":"B183","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1111\/gbb.12341","article-title":"Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E","volume":"16","author":"Villal\u00f3n","year":"2017","journal-title":"Genes Brain Behav."},{"key":"B184","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s12033-009-9193-5","article-title":"On and around microtubules: an overview","volume":"43","author":"Wade","year":"2009","journal-title":"Mol. Biotechnol."},{"key":"B185","doi-asserted-by":"publisher","first-page":"5092","DOI":"10.1091\/mbc.e04-05-0401","article-title":"The interaction of neurofilaments with the microtubule motor cytoplasmic dynein","volume":"15","author":"Wagner","year":"2004","journal-title":"Mol. Biol. Cell"},{"key":"B186","doi-asserted-by":"publisher","first-page":"9046","DOI":"10.1523\/JNEUROSCI.23-27-09046.2003","article-title":"Mechanisms of mitochondria-neurofilament interactions","volume":"23","author":"Wagner","year":"2003","journal-title":"J. Neurosci."},{"key":"B187","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1523\/JNEUROSCI.2272-18.2018","article-title":"Local acceleration of neurofilament transport at nodes of ranvier","volume":"39","author":"Walker","year":"2019","journal-title":"J. Neurosci."},{"key":"B188","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1186\/1750-1326-5-52","article-title":"A hereditary spastic paraplegia mutation in kinesin-1A\/KIF5A disrupts neurofilament transport","volume":"5","author":"Wang","year":"2010","journal-title":"Mol. Neurodegener."},{"key":"B189","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1038\/35004008","article-title":"Rapid movement of axonal neurofilaments interrupted by prolonged pauses","volume":"2","author":"Wang","year":"2000","journal-title":"Nat. Cell Biol."},{"key":"B190","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1083\/jcb.200301026","article-title":"Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A","volume":"161","author":"Xia","year":"2003","journal-title":"J. Cell Biol."},{"key":"B191","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1002\/(SICI)1097-0169(200004)45:4<249::AID-CM1>3.0.CO;2-M","article-title":"Phospho-dependent association of neurofilament proteins with kinesin in situ","volume":"45","author":"Yabe","year":"2000","journal-title":"Cell Motil. Cytoskelet."},{"key":"B192","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1007\/s00401-016-1564-y","article-title":"Neurofilament depletion improves microtubule dynamics via modulation of Stat3\/stathmin signaling","volume":"132","author":"Yadav","year":"2016","journal-title":"Acta Neuropathol."},{"key":"B193","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.jns.2016.04.007","article-title":"N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy","volume":"365","author":"Yang","year":"2016","journal-title":"J. Neurol. Sci."},{"key":"B194","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/j.ejcb.2008.11.004","article-title":"Neurofilament subunit (NFL) head domain phosphorylation regulates axonal transport of neurofilaments","volume":"88","author":"Yates","year":"2009","journal-title":"Eur. J. Cell Biol."},{"key":"B195","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/s0306-4522(01)00216-0","article-title":"Expression of Schwann cell-specific proteins and low-molecular-weight neurofilament protein during regeneration of sciatic nerve treated with neurotrophin-4","volume":"105","author":"Yin","year":"2001","journal-title":"Neuroscience"},{"key":"B196","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1046\/j.1529-8027.2002.02028.x","article-title":"Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals","volume":"7","author":"Yoshihara","year":"2002","journal-title":"J. Peripher Nerv. Syst."},{"key":"B197","doi-asserted-by":"publisher","first-page":"e0133848","DOI":"10.1371\/journal.pone.0133848","article-title":"Dissociation of axonal neurofilament content from its transport rate","volume":"10","author":"Yuan","year":"","journal-title":"PLoS One"},{"key":"B198","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.brainresbull.2022.10.017","article-title":"Posttranscriptional regulation of neurofilament proteins and tau in health and disease","volume":"192","author":"Yuan","year":"2023","journal-title":"Brain Res. Bull."},{"key":"B199","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1016\/j.brainresbull.2016.09.002","article-title":"Specialized roles of neurofilament proteins in synapses: relevance to neuropsychiatric disorders","volume":"126","author":"Yuan","year":"2016","journal-title":"Brain Res. Bull."},{"key":"B200","doi-asserted-by":"publisher","first-page":"10006","DOI":"10.1523\/JNEUROSCI.2580-06.2006","article-title":"Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS","volume":"26","author":"Yuan","year":"2006","journal-title":"J. Neurosci."},{"key":"B201","doi-asserted-by":"publisher","first-page":"a018309","DOI":"10.1101\/cshperspect.a018309","article-title":"Neurofilaments and neurofilament proteins in health and disease","volume":"9","author":"Yuan","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"B202","doi-asserted-by":"publisher","first-page":"8501","DOI":"10.1523\/JNEUROSCI.1081-12.2012","article-title":"Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons","volume":"32","author":"Yuan","year":"2012","journal-title":"J. Neurosci."},{"key":"B203","doi-asserted-by":"publisher","first-page":"11316","DOI":"10.1523\/JNEUROSCI.1942-09.2009","article-title":"Neurofilaments form a highly stable stationary cytoskeleton after reaching a critical level in axons","volume":"29","author":"Yuan","year":"2009","journal-title":"J. Neurosci."},{"key":"B204","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1038\/mp.2015.45","article-title":"Neurofilament subunits are integral components of synapses and modulate neurotransmission and behavior in vivo","volume":"20","author":"Yuan","year":"","journal-title":"Mol. Psychiatry"},{"key":"B205","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/s41398-018-0194-7","article-title":"Neurofilament light interaction with GluN1 modulates neurotransmission and schizophrenia-associated behaviors","volume":"8","author":"Yuan","year":"2018","journal-title":"Transl. Psychiatry"},{"key":"B206","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1002\/ana.21728","article-title":"A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy","volume":"66","author":"Yum","year":"2009","journal-title":"Ann. Neurol."},{"key":"B207","doi-asserted-by":"publisher","first-page":"3103","DOI":"10.1093\/hmg\/ddm272","article-title":"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","volume":"16","author":"Zhai","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"B208","doi-asserted-by":"publisher","first-page":"e0180038","DOI":"10.1371\/journal.pone.0180038","article-title":"Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model","volume":"12","author":"Zhao","year":"2017","journal-title":"PLoS One"},{"key":"B209","doi-asserted-by":"publisher","first-page":"4629","DOI":"10.1523\/JNEUROSCI.15-06-04629.1995","article-title":"The optic tract and tectal ablation influence the composition of neurofilaments in regenerating optic axons of Xenopus laevis","volume":"15","author":"Zhao","year":"1995","journal-title":"J. Neurosci."},{"key":"B210","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1006\/exnr.1997.6654","article-title":"Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments","volume":"148","author":"Zhu","year":"1997","journal-title":"Exp. Neurol."},{"key":"B211","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.nmd.2003.10.003","article-title":"The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy","volume":"14","author":"Z\u00fcchner","year":"2004","journal-title":"Neuromuscul. Disord."}],"container-title":["Frontiers in Cell and Developmental Biology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2023.1275155\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T07:06:46Z","timestamp":1702883206000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2023.1275155\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,18]]},"references-count":213,"alternative-id":["10.3389\/fcell.2023.1275155"],"URL":"https:\/\/doi.org\/10.3389\/fcell.2023.1275155","relation":{},"ISSN":["2296-634X"],"issn-type":[{"value":"2296-634X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,18]]},"article-number":"1275155"}}