{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T20:35:13Z","timestamp":1775334913857,"version":"3.50.1"},"reference-count":70,"publisher":"Bentham Science Publishers Ltd.","issue":"1","license":[{"start":{"date-parts":[[2011,8,26]],"date-time":"2011-08-26T00:00:00Z","timestamp":1314316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/legalcode"}],"content-domain":{"domain":["openneurologyjournal.com","benthamopen.com"],"crossmark-restriction":true},"short-container-title":["TONEUJ"],"published-print":{"date-parts":[[2011,8,26]]},"abstract":"<jats:p>Neurofilament protein alterations are found in many neurodegenerative diseases, such as amyotrophic lateral sclerosis, Parkinson, Alzheimer, and Charcot-Marie-Tooth. Abnormal modifications of neurofilament, such as mutation, oxidation and phosphorylation, are linked to the disease-related alteration. In this review, the most recent discovery and central arguments about functions, pathological modifications, and genetic mutations related to neurofilaments in neurodegenerative diseases is presented.<\/jats:p>","DOI":"10.2174\/1874205x01105010058","type":"journal-article","created":{"date-parts":[[2011,9,8]],"date-time":"2011-09-08T02:16:38Z","timestamp":1315448198000},"page":"58-62","update-policy":"https:\/\/doi.org\/10.2174\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Neurofilamentopathy in Neurodegenerative Diseases"],"prefix":"10.2174","volume":"05","author":[{"given":"Quan","family":"Liu","sequence":"first","affiliation":[]},{"given":"Fang","family":"Xie","sequence":"additional","affiliation":[]},{"given":"Abdiel","family":"Alvarado-Diaz","sequence":"additional","affiliation":[]},{"given":"Mark A","family":"Smith","sequence":"additional","affiliation":[]},{"given":"Paula I","family":"Moreira","sequence":"additional","affiliation":[]},{"given":"Xiongwei","family":"Zhu","sequence":"additional","affiliation":[]},{"given":"George","family":"Perry","sequence":"additional","affiliation":[]}],"member":"965","reference":[{"key":"refR1","doi-asserted-by":"crossref","first-page":"3057","DOI":"10.1007\/s00018-004-4268-8","volume":"61","author":"Liu Q","year":"2004","unstructured":"Liu Q, Xie F, Siedlak SL, et al. \n                    Neurofilament proteins in neurodegenerative diseases \n                    Cell Mol Life Sci  \n                    2004; \n                    61\n                    : 3057-75.","journal-title":"Cell Mol Life Sci"},{"key":"refR2","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1002\/bies.10251","volume":"25","author":"Al-Chalabi A","year":"2003","unstructured":"Al-Chalabi A, Miller CC. \n                    Neurofilaments and neurological disease \n                    Bioessays  \n                    2003; \n                    25\n                    : 346-55.","journal-title":"Bioessays"},{"key":"refR3","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1083\/jcb.143.1.183","volume":"143","author":"Zhu Q","year":"1998","unstructured":"Zhu Q, Lindenbaum M, Levavasseur F, Jacomy H, Julien JP. \n                    Disruption of the NF-H gene increases axonal microtubule content and velocity of neurofilament transport: relief of axonopathy resulting from the toxin beta, beta\u00a2-iminodipropionitrile \n                    J Cell Biol  \n                    1998; \n                    143\n                    : 183-93.","journal-title":"J Cell Biol"},{"key":"refR4","doi-asserted-by":"crossref","first-page":"16679","DOI":"10.1016\/S0021-9258(19)85471-6","volume":"268","author":"Dong DL","year":"1993","unstructured":"Dong DL, Xu ZS, Chevrier MR, Cotter RJ, Cleveland DW, Hart GW. \n                    Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetyl-glucosamine moieties on neurofilament polypeptides L and M \n                    J Biol Chem  \n                    1993; \n                    268\n                    : 16679-87.","journal-title":"J Biol Chem"},{"key":"refR5","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1097\/00005072-198811000-00007","volume":"47","author":"Manetto V","year":"1988","unstructured":"Manetto V, Sternberger NH, Perry G, Sternberger LA, Gambetti P. \n                    Phosphorylation of neurofilaments is altered in amyotrophic lateral sclerosis \n                    J Neuropathol Exp Neurol  \n                    1988; \n                    47\n                    : 642-53.","journal-title":"J Neuropathol Exp Neurol"},{"key":"refR6","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1093\/brain\/112.2.521","volume":"112","author":"Leigh PN","year":"1989","unstructured":"Leigh PN, Dodson A, Swash M, Brion JP, Anderton BH. \n                    Cytoskeletal abnormalities in motor neuron disease. An immunocytochemical study \n                    Brain  \n                    1989; \n                    112\n                    : 521-35.","journal-title":"Brain"},{"key":"refR7","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1007\/BF00310029","volume":"83","author":"Murayama S","year":"1992","unstructured":"Murayama S, Bouldin TW, Suzuki K. \n                    Immuno-cytochemical and ultrastructural studies of upper motor neurons in amyotrophic lateral sclerosis \n                    Acta Neuropathol  \n                    1992; \n                    83\n                    : 518-24.","journal-title":"Acta Neuropathol"},{"key":"refR8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1097\/00005072-199405000-00002","volume":"53","author":"Bergeron C","year":"1994","unstructured":"Bergeron C, Beric-Maskarel K, Muntasser S, Weyer L, Somerville MJ, Percy ME. \n                    Neurofilament light and polyadenylated mRNA levels are decreased in amyotrophic lateral sclerosis motor neurons \n                    J Neuropathol Exp Neurol  \n                    1994; \n                    53\n                    : 221-30.","journal-title":"J Neuropathol Exp Neurol"},{"key":"refR9","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/0092-8674(93)90157-L","volume":"73","author":"Xu Z","year":"1993","unstructured":"Xu Z, Cork LC, Griffin JW, Cleveland DW. \n                    Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease \n                    Cell  \n                    1993; \n                    73\n                    : 23-33.","journal-title":"Cell"},{"key":"refR10","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1083\/jcb.130.6.1413","volume":"130","author":"Wong PC","year":"1995","unstructured":"Wong PC, Marszalek J, Crawford TO, et al. \n                    Increasing neurofilament subunit NF-M expression reduces axonal NF-H, inhibits radial growth, and results in neurofilamentous accumulation in motor neurons \n                    J Cell Biol  \n                    1995; \n                    130\n                    : 1413-22.","journal-title":"J Cell Biol"},{"key":"refR11","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0092-8674(93)90158-M","volume":"73","author":"Cote F","year":"1993","unstructured":"Cote F, Collard JF, Julien JP. \n                    Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis \n                    Cell  \n                    1993; \n                    73\n                    : 35-46.","journal-title":"Cell"},{"key":"refR12","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1097\/00005072-199910000-00009","volume":"58","author":"Meier J","year":"1999","unstructured":"Meier J, Couillard-Despres S, Jacomy H, Gravel C, Julien JP. \n                    Extra neurofilament NF-L subunits rescue motor neuron disease caused by overexpression of the human NF-H gene in mice \n                    J Neuropathol Exp Neurol  \n                    1999; \n                    58\n                    : 1099- 110.","journal-title":"J Neuropathol Exp Neurol"},{"key":"refR13","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/jnen\/59.11.972","volume":"59","author":"Wong NK","year":"2000","unstructured":"Wong NK, He BP, Strong MJ. \n                    Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS) \n                    J Neuropathol Exp Neurol  \n                    2000; \n                    59\n                    : 972-82.","journal-title":"J. Neuropathol Exp Neurol"},{"key":"refR14","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1046\/j.1471-4159.2002.01045.x","volume":"82","author":"Menzies FM","year":"2002","unstructured":"Menzies FM, Grierson AJ, Cookson MR, et al. \n                    Selective loss of neurofilament expression in Cu\/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis \n                    J Neurochem  \n                    2002; \n                    82\n                    : 1118-28.","journal-title":"J Neurochem"},{"key":"refR15","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/3.10.1757","volume":"3","author":"Figlewicz DA","year":"1994","unstructured":"Figlewicz DA, Krizus A, Martinoli MG, et al. \n                    Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis \n                    Hum Mol Genet  \n                    1994; \n                    3\n                    : 1757-61.","journal-title":"Hum Mol Genet"},{"key":"refR16","doi-asserted-by":"crossref","first-page":"3967","DOI":"10.1097\/00001756-199812010-00036","volume":"9","author":"Tomkins J","year":"1998","unstructured":"Tomkins J, Usher P, Slade JY, et al. \n                    Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS) \n                    Neuroreport  \n                    1998; \n                    9\n                    : 3967-70.","journal-title":"Neuroreport"},{"key":"refR17","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/hmg\/8.2.157","volume":"8","author":"Al-Chalabi A","year":"1999","unstructured":"Al-Chalabi A, Andersen PM, Nilsson P, et al. \n                    Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis \n                    Hum Mol Genet  \n                    1999; \n                    8\n                    : 157-64.","journal-title":"Hum Mol Genet"},{"key":"refR18","doi-asserted-by":"crossref","first-page":"10351","DOI":"10.1073\/pnas.0503862102","volume":"102","author":"Lobsiger CS","year":"2005","unstructured":"Lobsiger CS, Garcia ML, Ward CM, Cleveland DW. \n                    Altered axonal architecture by removal of the heavily phosphorylated neurofilament tail domains strongly slows superoxide dismutase 1 mutant-mediated ALS \n                    Proc Natl Acad Sci USA  \n                    2005; \n                    102\n                    : 10351-6.","journal-title":"Proc Natl Acad Sci USA"},{"key":"refR19","doi-asserted-by":"crossref","first-page":"31648","DOI":"10.1074\/jbc.M504395200","volume":"280","author":"Ludemann N","year":"2005","unstructured":"Ludemann N, Clement A, Hans VH, Leschik J, Behl C, Brandt R. \n                    O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclerosis (ALS) \n                    J Biol Chem  \n                    2005; \n                    280\n                    : 31648-58.","journal-title":"J Biol Chem"},{"key":"refR20","doi-asserted-by":"crossref","first-page":"3645","DOI":"10.1091\/mbc.e07-03-0237","volume":"18","author":"Kesavapany S","year":"2007","unstructured":"Kesavapany S, Patel V, Zheng YL, et al. \n                    Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons \n                     Mol Biol Cell  \n                    2007; \n                    18\n                    : 3645-55.","journal-title":"Mol Biol Cell"},{"key":"refR21","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1093\/hmg\/ddn182","volume":"17","author":"Teuling E","year":"2008","unstructured":"Teuling E, van Dis B, Wulf PS, et al. \n                    A novel mouse model with impaired dynein\/dynactin function develops amyotrophis lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice \n                    Hum Mol Genet  \n                    2008; \n                    17\n                    : 2849-62.","journal-title":"Hum Mol Genet"},{"key":"refR22","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/hmg\/ddn319","volume":"18","author":"Cheroni C","year":"2009","unstructured":"Cheroni C, Marino M, Tortarolo M, et al. \n                    Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis \n                    Hum Mol Genet  \n                    2009; \n                    18\n                    : 82-96.","journal-title":"Hum Mol Genet"},{"key":"refR23","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.brainres.2009.09.105","volume":"1305","author":"Volkening K","year":"2009","unstructured":"Volkening K, Leystra-Lantz C, Yang W, Jaffee H, Strong MJ. \n                    Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper\/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS) \n                    Brain Res  \n                    2009; \n                    1305\n                    : 168-82.","journal-title":"Brain Res"},{"key":"refR24","doi-asserted-by":"crossref","first-page":"9631","DOI":"10.1073\/pnas.95.16.9631","volume":"95","author":"Williamson TL","year":"1998","unstructured":"Williamson TL, Bruijn LI, Zhu Q, et al. \n                    Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant \n                    Proc Natl Acad Sci USA  \n                    1998; \n                    95\n                    : 9631-6.","journal-title":"Proc Natl Acad Sci USA"},{"key":"refR25","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1212\/01.wnl.0000203120.85850.54","volume":"66","author":"Brettschneider J","year":"2006","unstructured":"Brettschneider J, Petzold A, Sussmuth SD, Ludolph AC, Tumani H. \n                    Axonal damage markers in cerebrospinal fluid are increased in ALS \n                    Neurology  \n                    2006; \n                    66\n                    : 852-6.","journal-title":"Neurology"},{"key":"refR26","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.jneuroim.2010.01.004","volume":"220","author":"Kuhle J","year":"2010","unstructured":"Kuhle J, Regeniter A, Leppert D, et al. \n                    A highly sensitive electrochemiluminescence immunoassay for the neurofilament heavy chain protein \n                    J Neuroimmunol  \n                    2010; \n                    220\n                    : 114-9.","journal-title":"J Neuroimmunol"},{"key":"refR27","doi-asserted-by":"crossref","first-page":"3916","DOI":"10.1073\/pnas.82.11.3916","volume":"82","author":"Perry G","year":"1985","unstructured":"Perry G, Rizzuto N, Autilio-Gambetti L, Gambetti P. \n                    Paired helical filaments from Alzheimer disease patients contain cytoskeletal components \n                    Proc Natl Acad Sci USA  \n                    1985; \n                    82\n                    : 3916-20.","journal-title":"Proc Natl Acad Sci USA"},{"key":"refR28","doi-asserted-by":"crossref","first-page":"3033","DOI":"10.1073\/pnas.84.9.3033","volume":"84","author":"Perry G","year":"1987","unstructured":"Perry G, Friedman R, Shaw G, Chau V. \n                    Ubiquitin is detected in neurofibrillary tangles and senile plaque neurites of Alzheimer disease brains \n                    Proc Natl Acad Sci USA  \n                    1987; \n                    84\n                    : 3033-6.","journal-title":"Proc Natl Acad Sci USA"},{"key":"refR29","doi-asserted-by":"crossref","first-page":"5535","DOI":"10.1074\/jbc.275.8.5535","volume":"275","author":"Gong CX","year":"2000","unstructured":"Gong CX, Lidsky T, Wegiel J, Zuck L, Grundke-Iqbal I, Iqbal K. \n                    Phosphorylation of microtubule-associated protein tau is regulated by protein phosphatase 2A in mammalian brain. Implications for neurofibrillary degeneration in Alzheimer\u2019s disease \n                    J Biol Chem  \n                    2000; \n                    275\n                    : 5535-44.","journal-title":"J Biol Chem"},{"key":"refR30","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/0006-8993(93)91286-2","volume":"618","author":"Trojanowski JQ","year":"1993","unstructured":"Trojanowski JQ, Mawal-Dewan M, Schmidt ML, Martin J, Lee VM. \n                    Localization of the mitogen activated protein kinase ERK2 in Alzheimer\u2019s disease neurofibrillary tangles and senile plaque neurites \n                    Brain Res  \n                    1993; \n                    618\n                    : 333-7.","journal-title":"Brain Res"},{"key":"refR31","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1046\/j.1432-1327.2001.02024.x","volume":"268","author":"Maccioni RB","year":"2001","unstructured":"Maccioni RB, Otth C, Concha II, Munoz JP. \n                    The protein kinase Cdk5. Structural aspects, roles in neurogenesis and involvement in Alzheimer\u2019s pathology \n                    Eur J Biochem  \n                    2001; \n                    268\n                    : 1518-27.","journal-title":"Eur J Biochem"},{"key":"refR32","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/0014-5793(92)81496-9","volume":"314","author":"Mandelkow EM","year":"1992","unstructured":"Mandelkow EM, Drewes G, Biernat J, et al. \n                    Glycogen synthase kinase-3 and the Alzheimer-like state of microtubule-associated protein tau \n                    FEBS Lett  \n                    1992; \n                    314\n                    : 315-21.","journal-title":"FEBS Lett"},{"key":"refR33","first-page":"255","volume":"427","author":"McLachlan DR","year":"1988","unstructured":"McLachlan DR, Lukiw WJ, Wong L, Bergeron C, Bech-Hansen NT. \n                    Selective messenger RNA reduction in Alzheimer\u2019s disease \n                    Brain Res  \n                    1988; \n                    427\n                    : 255-61.","journal-title":"Brain Res"},{"key":"refR34","doi-asserted-by":"crossref","first-page":"4644","DOI":"10.1074\/jbc.M110913200","volume":"277","author":"Wataya T","year":"2002","unstructured":"Wataya T, Nunomura A, Smith MA, et al. \n                    High molecular weight neurofilament proteins are physiological substrates of adduction by the lipid peroxidation product hydroxynonenal \n                    J Biol Chem  \n                    2002; \n                    277\n                    : 4644-8.","journal-title":"J Biol Chem"},{"key":"refR35","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/S0098-2997(03)00025-6","volume":"24","author":"Liu Q","year":"2003","unstructured":"Liu Q, Raina AK, Smith MA, Sayre LM, Perry G. \n                    Hydroxynonenal, toxic carbonyls, and Alzheimer disease \n                    Mol Aspects Med  \n                    2003; \n                    24\n                    : 305-13.","journal-title":"Mol Aspects Med"},{"key":"refR36","doi-asserted-by":"crossref","first-page":"21522","DOI":"10.1074\/jbc.M502255200","volume":"280","author":"Pamplona R","year":"2005","unstructured":"Pamplona R, Dalfo E, Ayala V, et al. \n                    Proteins in human brain cortex are modified by oxidation, glycoxidation, and lipoxidation. Effects of Alzheimer disease and identification of lipoxidation targets \n                    J Biol Chem  \n                    2005; \n                    280\n                    : 21522-30.","journal-title":"J Biol Chem"},{"key":"refR37","doi-asserted-by":"crossref","first-page":"37061","DOI":"10.1074\/jbc.M403672200","volume":"279","author":"Liao L","year":"2004","unstructured":"Liao L, Cheng D, Wang J, et al. \n                    Proteomic characterization of postmortem amyloid plaques isolated by laser capture microdissection \n                    J Biol Chem  \n                    2004; \n                    279\n                    : 37061-8.","journal-title":"J Biol Chem"},{"key":"refR38","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1096\/fj.07-8309com","volume":"22","author":"Deng Y","year":"2008","unstructured":"Deng Y, Li B, Liu F, et al. \n                    Regulation between O-GlcNAcylation and phosphorylation of neurofilament-M and their dysregulation in Alzheimer disease \n                    FASEB J  \n                    2008; \n                    22\n                    : 138-45.","journal-title":"FASEB J"},{"key":"refR39","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1002\/jnr.21589","volume":"86","author":"Bjorkdahl C","year":"2008","unstructured":"Bjorkdahl C, Sj\u00f6gren MK, Zhou X, et al. \n                    Small heat shock proteins Hsp27 or alphaB-crystallin and the protein components of neurofibrillary tangles: tau and neurofilaments \n                    J Neurosci Res  \n                    2008; \n                    86\n                    : 1343-52.","journal-title":"J Neurosci Res"},{"key":"refR40","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1212\/01.WNL.0000091890.32140.8F","volume":"61","author":"Mayeux R","year":"2003","unstructured":"Mayeux R, Honig LS, Tang MX, et al. \n                    Plasma A[beta]40 and A[beta]42 and Alzheimer\u2019s disease: relation to age, mortality, and risk \n                    Neurology  \n                    2003; \n                    61\n                    : 1185-90.","journal-title":"Neurology"},{"key":"refR41","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.molmed.2005.02.008","volume":"11","author":"Lee HG","year":"2005","unstructured":"Lee HG, Perry G, Moreira PI, et al. \n                    Tau phosphorylation in Alzheimer's disease: pathogen or protector? \n                    Trends Mol Med  \n                    2005; \n                    11\n                    : 164-9.","journal-title":"Trends Mol Med"},{"key":"refR42","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.neuroscience.2009.02.037","volume":"160","author":"Thangavel R","year":"2009","unstructured":"Thangavel R, Sahu SK, Van Hoesen GW, Zaheer A. \n                    Loss of non-phosphorylated neurofilament immunoreactivity in temporal cortical areas in Alzheimer\u2019s disease \n                    Neuroscience  \n                    2009; \n                    160\n                    : 427-33.","journal-title":"Neuroscience"},{"key":"refR43","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1007\/s10571-008-9341-7","volume":"29","author":"Yang X","year":"2009","unstructured":"Yang X, Yang Y, Lou Y, Li G, Wang J, Yang ES. \n                    Hyperphosphorylation and accumulation of neurofilament proteins in transgenic mice with Alzheimer presenilin 1 mutation \n                    Cell Mol Neurobiol  \n                    2009; \n                    29\n                    : 497-501.","journal-title":"Cell Mol Neurobiol"},{"key":"refR44","doi-asserted-by":"crossref","first-page":"2910","DOI":"10.1073\/pnas.040577797","volume":"97","author":"Ahlijanian MK","year":"2000","unstructured":"Ahlijanian MK, Barrezueta NX, Williams RD, et al. \n                    Hyperphosphorylated tau and neurofilament and cytoskeletal disruptions in mice overexpressing human p25, an activator of cdk5 \n                    Proc Natl Acad Sci USA  \n                    2000; \n                    97\n                    : 2910-5.","journal-title":"Proc Natl Acad Sci USA"},{"key":"refR45","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.neulet.2009.12.078","volume":"471","author":"Sonoda Y","year":"1996","unstructured":"Sonoda Y, Mukai H, Matsuo K, et al. \n                    Accumulation of tumor-suppressor PTEN in Alzheimer neurofibrillary tangles \n                    Neurosci Lett  \n                    1996; \n                    471\n                    : 20-4.","journal-title":"Neurosci Lett"},{"key":"refR46","first-page":"809","volume":"140","author":"Galloway PG","year":"1992","unstructured":"Galloway PG, Mulvihill P, Perry G. \n                    Filaments of Lewy bodies contain insoluble cytoskeletal elements \n                    Am J Pathol  \n                    1992; \n                    140\n                    : 809-22.","journal-title":"Am J Pathol"},{"key":"refR47","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1046\/j.1471-4159.2003.02168.x","volume":"88","author":"Trimmer PA","year":"2004","unstructured":"Trimmer PA, Borland MK, Keeney PM, Bennett JP Jr, Parker WD Jr. \n                    Parkinson\u2019s disease transgenic mitochondrial cybrids generate Lewy inclusion bodies \n                    J Neurochem  \n                    2004; \n                    88\n                    : 800-12.","journal-title":"J Neurochem"},{"key":"refR48","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1093\/hmg\/8.4.567","volume":"8","author":"Abbas N","year":"1999","unstructured":"Abbas N, Lucking CB, Ricard S, et al. \n                    A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinsons Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinsons Disease \n                    Hum Mol Genet  \n                    1999; \n                    8\n                    : 567-74.","journal-title":"Hum Mol Genet"},{"key":"refR49","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/s004390050845","volume":"103","author":"Leroy E","year":"1998","unstructured":"Leroy E, Anastasopoulos D, Konitsiotis S, Lavedan C, Polymeropoulos MH. \n                    Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson\u2019s disease \n                    Hum Genet  \n                    1998; \n                    103\n                    : 424-7.","journal-title":"Hum Genet"},{"key":"refR50","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1056\/NEJM200005253422103","volume":"342","author":"Lucking CB","year":"2000","unstructured":"Lucking CB, Durr A, Bonifati V, et al. \n                    Association between early-onset Parkinson\u2019s disease and mutations in the parkin gene. French Parkinson\u2019s Disease Genetics Study Group \n                    N Engl J Med  \n                    2000; \n                    342\n                    : 1560-7.","journal-title":"N Engl J Med"},{"key":"refR51","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s11910-002-0071-9","volume":"2","author":"Lim KL","year":"2002","unstructured":"Lim KL, Dawson VL, Dawson TM. \n                     The genetics of Parkinson\u2019s disease \n                    Curr Neurol Neurosci Rep  \n                    2002; \n                    2\n                    : 439-6.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"refR52","doi-asserted-by":"crossref","first-page":"3943","DOI":"10.1002\/pmic.200400848","volume":"4","author":"Basso M","year":"2004","unstructured":"Basso M, Giraudo S, Corpillo D, Bergamasco B, Lopiano L, Fasano M. \n                    Proteome analysis of human substantia nigra in Parkinson's disease \n                    Proteomics  \n                    2004; \n                    4\n                    : 3943-52.","journal-title":"Proteomics"},{"key":"refR53","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/cne.903290304","volume":"329","author":"Hill WD","year":"1993","unstructured":"Hill WD, Arai M, Cohen JA, Trojanowski JQ. \n                    Neurofilament mRNA is reduced in Parkinson\u2019s disease substantia nigra pars compacta neurons \n                    J Comp Neurol  \n                    1993; \n                    329\n                    : 328-6.","journal-title":"J Comp Neurol"},{"key":"refR54","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/S0304-3940(01)02513-7","volume":"322","author":"Lavedan C","year":"2002","unstructured":"Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH. \n                    A mutation in the human neurofilament M gene in Parkinson\u2019s disease that suggests a role for the cytoskeleton in neuronal degeneration \n                    Neurosci Lett  \n                    2002; \n                    322\n                    : 57-61.","journal-title":"Neurosci Lett"},{"key":"refR55","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/j.1471-4159.2005.03095.x","volume":"93","author":"Perez-Olle R","year":"2005","unstructured":"Perez-Olle R, Lopez-Toledano MA, Goryunov D, et al. \n                    Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport \n                    J Neurochem  \n                    2005; \n                    93\n                    : 861-74.","journal-title":"J Neurochem"},{"key":"refR56","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0304-3940(03)00903-0","volume":"351","author":"Kruger R","year":"2003","unstructured":"Kruger R, Fischer C, Schulte T, et al. \n                    Mutation analysis of the neurofilament M gene in Parkinson's disease \n                    Neurosci Lett  \n                    2003; \n                    351\n                    : 125-9.","journal-title":"Neurosci Lett"},{"key":"refR57","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1017\/S0317167100016905","volume":"32","author":"Han F","year":"2005","unstructured":"Han F, Bulman DE, Panisset M, Grimes DA. \n                    Neurofilament M gene in a French-Canadian population with Parkinson's disease \n                    Can J Neurol Sci  \n                    2005; \n                    32\n                    : 68-70.","journal-title":"Can J Neurol Sci"},{"key":"refR58","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1016\/j.neurobiolaging.2006.03.010","volume":"28","author":"Abdo WF","year":"2007","unstructured":"Abdo WF, Bloem BR, Van Geel WJ, Esselink RA, Verbeek MM. \n                    CSF neurofilament light chain and tau differentiate multiple system atrophy from Parkinson\u2019s disease \n                     Neurobiol Aging  \n                    2007; \n                    28\n                    : 742-.","journal-title":"Neurobiol Aging"},{"key":"refR59","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1016\/0896-6273(94)90263-1","volume":"13","author":"Lee MK","year":"1994","unstructured":"Lee MK, Marszalek JR, Cleveland DW. \n                    A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease \n                    Neuron  \n                    1994; \n                    13\n                    : 975-88.","journal-title":"Neuron"},{"key":"refR60","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1086\/302962","volume":"67","author":"Mersiyanova IV","year":"2000","unstructured":"Mersiyanova IV, Perepelov AV, Polyakov AV, et al. \n                    A new variant of Charcot-Marie- Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene \n                    Am J Hum Genet  \n                    2000; \n                    67\n                    : 37-46.","journal-title":"Am J Hum Genet"},{"key":"refR61","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s10048-002-0138-4","volume":"4","author":"Georgiou DM","year":"2002","unstructured":"Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K. \n                    A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family \n                    Neurogenetics  \n                    2002; \n                    4\n                    : 93-6.","journal-title":"Neurogenetics"},{"key":"refR62","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1093\/brain\/awg059","volume":"126","author":"Jordanova A","year":"2003","unstructured":"Jordanova A, De Jonghe P, Boerkoel CF, et al. \n                    Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease \n                    Brain  \n                    2003; \n                    126\n                    : 590-7.","journal-title":"Brain"},{"key":"refR63","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.nmd.2003.10.003","volume":"14","author":"Zuchner S","year":"2004","unstructured":"Zuchner S, Vorgerd M, Sindern E, Schroder JM. \n                    The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy \n                    Neuromuscul Disord  \n                    2004; \n                    14\n                    : 147-57.","journal-title":"Neuromuscul Disord"},{"key":"refR64","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1046\/j.1529-8027.2002.02028.x","volume":"7","author":"Yoshihara T","year":"2002","unstructured":"Yoshihara T, Yamamoto M, Hattori N, et al. \n                    Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals \n                    J Peripher Nerv Syst  \n                    2002; \n                    7\n                    : 221-4.","journal-title":"J Peripher Nerv Syst"},{"key":"refR65","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1093\/hmg\/ddl011","volume":"15","author":"Sasaki T","year":"2006","unstructured":"Sasaki T, Gotow T, Shiozaki M, et al. \n                    Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants \n                    Hum Mol Genet  \n                    2006; \n                    15\n                    : 943-52.","journal-title":"Hum Mol Genet"},{"key":"refR66","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1093\/jnen\/63.7.759","volume":"63","author":"Perez-Olle R","year":"2004","unstructured":"Perez-Olle R, Lopez-Toledano MA, Liem RK. \n                    The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants \n                    J Neuropathol Exp Neurol  \n                    2004; \n                    63\n                    : 759-4.","journal-title":"J Neuropathol Exp Neurol"},{"key":"refR67","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1093\/hmg\/ddm272","volume":"16","author":"Zhai J","year":"2007","unstructured":"Zhai J, Lin H, Julien JP, Schlaepfer WW. \n                    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 \n                    Hum Mol Genet  \n                    2007; \n                    16\n                    : 3103-16.","journal-title":"Hum Mol Genet"},{"key":"refR68","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.bbrc.2007.11.105","volume":"366","author":"Hull E","year":"2008","unstructured":"Hull E, Spoja C, Cordova M, Cohlberg JA. \n                    Neurofilament protein aggregation in a cell line model system \n                    Biochem Biophys Res Commun  \n                    2008; \n                    366\n                    : 73-9.","journal-title":"Biochem Biophys Res Commun"},{"key":"refR69","doi-asserted-by":"crossref","first-page":"15944","DOI":"10.1073\/pnas.0901872106","volume":"106","author":"Zhu X","year":"2009","unstructured":"Zhu X, Liu Y, Yin Y, et al. \n                    MSC p43 required for axonal development in motor neurons \n                    Proc Natl Acad Sci USA  \n                    2009; \n                    106\n                    : 15944-9.","journal-title":"Proc Natl Acad Sci USA"},{"key":"refR70","doi-asserted-by":"crossref","first-page":"2616","DOI":"10.1093\/hmg\/ddq149","volume":"19","author":"Dequen F","year":"2010","unstructured":"Dequen F, Filali M, Larivi\u00e8re RC, Perrot R, Hisinaga S, Julien J. \n                    Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E \n                    Hum Mol Genet  \n                    2010; \n                    19\n                    : 2616-9.","journal-title":"Hum Mol Genet"}],"container-title":["The Open Neurology Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/openneurologyjournal.com\/contents\/volumes\/V05\/TONEUJ-5-58\/TONEUJ-5-58.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/openneurologyjournal.com\/contents\/volumes\/V05\/TONEUJ-5-58\/TONEUJ-5-58.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/openneurologyjournal.com\/contents\/volumes\/V05\/TONEUJ-5-58\/TONEUJ-5-58.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:34Z","timestamp":1761718054000},"score":1,"resource":{"primary":{"URL":"https:\/\/openneurologyjournal.com\/VOLUME\/05\/PAGE\/58\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,26]]},"references-count":70,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,8,26]]}},"alternative-id":["TONEUJ-5-58"],"URL":"https:\/\/doi.org\/10.2174\/1874205x01105010058","relation":{},"ISSN":["1874-205X"],"issn-type":[{"value":"1874-205X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,8,26]]},"assertion":[{"value":"Peer Reviewed","order":0,"name":"review_status","label":"Review Status","group":{"name":"peer_review_details","label":"Peer Review Details"}},{"value":"Double blind","order":1,"name":"review_process","label":"Review Process","group":{"name":"peer_review_details","label":"Peer Review Details"}},{"value":"Checked with iThenticate","order":0,"name":"screening_status","label":"Screening Status","group":{"name":"plagiarism_screening","label":"Plagiarism Screening"}},{"value":"2011-6-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2011-7-25","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2011-7-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2011-08-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}