TY - JOUR AU - Douglas, P. M. AU - Dillin, A. PY - 2010 DA - 2010// TI - Protein homeostasis and aging in neurodegeneration JO - J Cell Biol VL - 190 UR - https://doi.org/10.1083/jcb.201005144 DO - 10.1083/jcb.201005144 ID - Douglas2010 ER - TY - JOUR AU - Sweeney, P. AU - Park, H. AU - Baumann, M. AU - Dunlop, J. AU - Frydman, J. AU - Kopito, R. AU - McCampbell, A. AU - Leblanc, G. AU - Venkateswaran, A. AU - Nurmi, A. AU - Hodgson, R. PY - 2017 DA - 2017// TI - Protein misfolding in neurodegenerative diseases: implications and strategies JO - Transl Neurodegener VL - 6 UR - https://doi.org/10.1186/s40035-017-0077-5 DO - 10.1186/s40035-017-0077-5 ID - Sweeney2017 ER - TY - JOUR AU - Soto, C. AU - Pritzkow, S. PY - 2018 DA - 2018// TI - Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases JO - Nat Neurosci VL - 21 UR - https://doi.org/10.1038/s41593-018-0235-9 DO - 10.1038/s41593-018-0235-9 ID - Soto2018 ER - TY - JOUR AU - Breydo, L. AU - Wu, J. W. AU - Uversky, V. N. PY - 2012 DA - 2012// TI - Alpha-synuclein misfolding and Parkinson's disease JO - Biochim Biophys Acta VL - 1822 UR - https://doi.org/10.1016/j.bbadis.2011.10.002 DO - 10.1016/j.bbadis.2011.10.002 ID - Breydo2012 ER - TY - JOUR AU - Stoyas, C. A. AU - Spada, A. R. PY - 2018 DA - 2018// TI - The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology JO - Handb Clin Neurol VL - 147 UR - https://doi.org/10.1016/B978-0-444-63233-3.00011-7 DO - 10.1016/B978-0-444-63233-3.00011-7 ID - Stoyas2018 ER - TY - JOUR AU - Irvine, G. B. AU - El-Agnaf, O. M. AU - Shankar, G. M. AU - Walsh, D. M. PY - 2008 DA - 2008// TI - Protein aggregation in the brain: the molecular basis for Alzheimer's and Parkinson's diseases JO - Mol Med VL - 14 UR - https://doi.org/10.2119/2007-00100.Irvine DO - 10.2119/2007-00100.Irvine ID - Irvine2008 ER - TY - JOUR AU - Blokhuis, A. M. AU - Groen, E. J. AU - Koppers, M. AU - Berg, L. H. AU - Pasterkamp, R. J. PY - 2013 DA - 2013// TI - Protein aggregation in amyotrophic lateral sclerosis JO - Acta Neuropathol VL - 125 UR - https://doi.org/10.1007/s00401-013-1125-6 DO - 10.1007/s00401-013-1125-6 ID - Blokhuis2013 ER - TY - JOUR AU - Pannese, E. PY - 1996 DA - 1996// TI - The black reaction JO - Brain Res Bull VL - 41 UR - https://doi.org/10.1016/S0361-9230(96)00177-3 DO - 10.1016/S0361-9230(96)00177-3 ID - Pannese1996 ER - TY - STD TI - Bodian, David: A new method for staining nerve fibers and nerve endings in mounted paraffin sections. The Anatomical Record. 1936;65:89–97. ID - ref9 ER - TY - JOUR AU - Ishii, T. AU - Haga, S. AU - Tokutake, S. PY - 1979 DA - 1979// TI - Presence of neurofilament protein in Alzheimer's neurofibrillary tangles (ANT). An immunofluorescent study JO - Acta Neuropathol VL - 48 UR - https://doi.org/10.1007/BF00691151 DO - 10.1007/BF00691151 ID - Ishii1979 ER - TY - JOUR AU - Goldman, J. E. AU - Yen, S. H. AU - Chiu, F. C. AU - Peress, N. S. PY - 1983 DA - 1983// TI - Lewy bodies of Parkinson's disease contain neurofilament antigens JO - Science. VL - 221 UR - https://doi.org/10.1126/science.6308771 DO - 10.1126/science.6308771 ID - Goldman1983 ER - TY - JOUR AU - Delisle, M. B. AU - Carpenter, S. PY - 1984 DA - 1984// TI - Neurofibrillary axonal swellings and amyotrophic lateral sclerosis JO - J Neurol Sci VL - 63 UR - https://doi.org/10.1016/0022-510X(84)90199-0 DO - 10.1016/0022-510X(84)90199-0 ID - Delisle1984 ER - TY - JOUR AU - Perry, G. AU - Stewart, D. AU - Friedman, R. AU - Manetto, V. AU - Autilio-Gambetti, L. AU - Gambetti, P. PY - 1987 DA - 1987// TI - Filaments of Pick's bodies contain altered cytoskeletal elements JO - Am J Pathol VL - 127 ID - Perry1987 ER - TY - JOUR AU - Iwahashi, C. K. AU - Yasui, D. H. AU - An, H. J. AU - Greco, C. M. AU - Tassone, F. AU - Nannen, K. AU - Babineau, B. AU - Lebrilla, C. B. AU - Hagerman, R. J. AU - Hagerman, P. J. PY - 2006 DA - 2006// TI - Protein composition of the intranuclear inclusions of FXTAS JO - Brain. VL - 129 UR - https://doi.org/10.1093/brain/awh650 DO - 10.1093/brain/awh650 ID - Iwahashi2006 ER - TY - JOUR AU - Cifuentes-Diaz, C. AU - Nicole, S. AU - Velasco, M. E. AU - Borra-Cebrian, C. AU - Panozzo, C. AU - Frugier, T. AU - Millet, G. AU - Roblot, N. AU - Joshi, V. AU - Melki, J. PY - 2002 DA - 2002// TI - Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model JO - Hum Mol Genet VL - 11 UR - https://doi.org/10.1093/hmg/11.12.1439 DO - 10.1093/hmg/11.12.1439 ID - Cifuentes-Diaz2002 ER - TY - JOUR AU - Louis, E. D. AU - Yi, H. AU - Erickson-Davis, C. AU - Vonsattel, J. P. AU - Faust, P. L. PY - 2009 DA - 2009// TI - Structural study of Purkinje cell axonal torpedoes in essential tremor JO - Neurosci Lett VL - 450 UR - https://doi.org/10.1016/j.neulet.2008.11.043 DO - 10.1016/j.neulet.2008.11.043 ID - Louis2009 ER - TY - JOUR AU - Denora, P. S. AU - Smets, K. AU - Zolfanelli, F. AU - Ceuterick-de Groote, C. AU - Casali, C. AU - Deconinck, T. AU - Sieben, A. AU - Gonzales, M. AU - Zuchner, S. AU - Darios, F. PY - 2016 DA - 2016// TI - Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions JO - Brain. VL - 139 ID - Denora2016 ER - TY - JOUR AU - Palmer, E. E. AU - Kumar, R. AU - Gordon, C. T. AU - Shaw, M. AU - Hubert, L. AU - Carroll, R. AU - Rio, M. AU - Murray, L. AU - Leffler, M. AU - Dudding-Byth, T. PY - 2017 DA - 2017// TI - A recurrent De novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations JO - Am J Hum Genet VL - 101 UR - https://doi.org/10.1016/j.ajhg.2017.10.009 DO - 10.1016/j.ajhg.2017.10.009 ID - Palmer2017 ER - TY - JOUR AU - Palo, J. AU - Haltia, M. AU - Carpenter, S. AU - Karpati, G. AU - Mushynski, W. PY - 1984 DA - 1984// TI - Neurofilament subunit--related proteins in neuronal intranuclear inclusions JO - Ann Neurol VL - 15 UR - https://doi.org/10.1002/ana.410150404 DO - 10.1002/ana.410150404 ID - Palo1984 ER - TY - JOUR AU - Schmidt, R. E. AU - Beaudet, L. N. AU - Plurad, S. B. AU - Dorsey, D. A. PY - 1997 DA - 1997// TI - Axonal cytoskeletal pathology in aged and diabetic human sympathetic autonomic ganglia JO - Brain Res VL - 769 UR - https://doi.org/10.1016/S0006-8993(97)00806-8 DO - 10.1016/S0006-8993(97)00806-8 ID - Schmidt1997 ER - TY - JOUR AU - Haltia, M. AU - Somer, M. PY - 1993 DA - 1993// TI - Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome) JO - Acta Neuropathol VL - 85 UR - https://doi.org/10.1007/BF00227717 DO - 10.1007/BF00227717 ID - Haltia1993 ER - TY - JOUR AU - Gambetti, P. AU - Autilio Gambetti, L. AU - Papasozomenos, S. C. PY - 1981 DA - 1981// TI - Bodian's silver method stains neurofilament polypeptides JO - Science. VL - 213 UR - https://doi.org/10.1126/science.6169146 DO - 10.1126/science.6169146 ID - Gambetti1981 ER - TY - JOUR AU - Balin, B. J. AU - Clark, E. A. AU - Trojanowski, J. Q. AU - Lee, V. M. PY - 1991 DA - 1991// TI - Neurofilament reassembly in vitro: biochemical, morphological and immuno-electron microscopic studies employing monoclonal antibodies to defined epitopes JO - Brain Res VL - 556 UR - https://doi.org/10.1016/0006-8993(91)90306-G DO - 10.1016/0006-8993(91)90306-G ID - Balin1991 ER - TY - JOUR AU - Rudrabhatla, P. AU - Jaffe, H. AU - Pant, H. C. PY - 2011 DA - 2011// TI - Direct evidence of phosphorylated neuronal intermediate filament proteins in neurofibrillary tangles (NFTs): phosphoproteomics of Alzheimer's NFTs JO - FASEB J VL - 25 UR - https://doi.org/10.1096/fj.11-181297 DO - 10.1096/fj.11-181297 ID - Rudrabhatla2011 ER - TY - JOUR AU - Hirano, A. PY - 1994 DA - 1994// TI - Hirano bodies and related neuronal inclusions JO - Neuropathol Appl Neurobiol VL - 20 UR - https://doi.org/10.1111/j.1365-2990.1994.tb00951.x DO - 10.1111/j.1365-2990.1994.tb00951.x ID - Hirano1994 ER - TY - JOUR AU - Franke, W. W. AU - Schmid, E. AU - Osborn, M. AU - Weber, K. PY - 1978 DA - 1978// TI - Different intermediate-sized filaments distinguished by immunofluorescence microscopy JO - Proc Natl Acad Sci U S A VL - 75 UR - https://doi.org/10.1073/pnas.75.10.5034 DO - 10.1073/pnas.75.10.5034 ID - Franke1978 ER - TY - JOUR AU - Leduc, C. AU - Etienne-Manneville, S. PY - 2015 DA - 2015// TI - Intermediate filaments in cell migration and invasion: the unusual suspects JO - Curr Opin Cell Biol VL - 32 UR - https://doi.org/10.1016/j.ceb.2015.01.005 DO - 10.1016/j.ceb.2015.01.005 ID - Leduc2015 ER - TY - JOUR AU - Yuan, A. AU - Rao, M. V. AU - Sasaki, T. AU - Chen, Y. AU - Kumar, A. AU - Veeranna, L. R. K. AU - Eyer, J. AU - Peterson, A. C. AU - Julien, J. P. AU - Nixon, R. A. PY - 2006 DA - 2006// TI - Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS JO - J Neurosci VL - 26 UR - https://doi.org/10.1523/JNEUROSCI.2580-06.2006 DO - 10.1523/JNEUROSCI.2580-06.2006 ID - Yuan2006 ER - TY - JOUR AU - Yuan, A. AU - Sasaki, T. AU - Kumar, A. AU - Peterhoff, C. M. AU - Rao, M. V. AU - Liem, R. K. AU - Julien, J. P. AU - Nixon, R. A. PY - 2012 DA - 2012// TI - Peripherin is a subunit of peripheral nerve neurofilaments: implications for differential vulnerability of CNS and peripheral nervous system axons JO - J Neurosci VL - 32 UR - https://doi.org/10.1523/JNEUROSCI.1081-12.2012 DO - 10.1523/JNEUROSCI.1081-12.2012 ID - Yuan2012 ER - TY - JOUR AU - Nixon, R. A. AU - Shea, T. B. PY - 1992 DA - 1992// TI - Dynamics of neuronal intermediate filaments: a developmental perspective JO - Cell Motil Cytoskeleton VL - 22 UR - https://doi.org/10.1002/cm.970220202 DO - 10.1002/cm.970220202 ID - Nixon1992 ER - TY - STD TI - Herrmann H, Aebi U. Intermediate filaments: structure and assembly. Cold Spring Harb Perspect Biol. 2016;8:a018242. ID - ref31 ER - TY - JOUR AU - Renner, W. AU - Franke, W. W. AU - Schmid, E. AU - Geisler, N. AU - Weber, K. AU - Mandelkow, E. PY - 1981 DA - 1981// TI - Reconstitution of intermediate-sized filaments from denatured monomeric vimentin JO - J Mol Biol VL - 149 UR - https://doi.org/10.1016/0022-2836(81)90303-X DO - 10.1016/0022-2836(81)90303-X ID - Renner1981 ER - TY - JOUR AU - Herrmann, H. AU - Bar, H. AU - Kreplak, L. AU - Strelkov, S. V. AU - Aebi, U. PY - 2007 DA - 2007// TI - Intermediate filaments: from cell architecture to nanomechanics JO - Nat Rev Mol Cell Biol VL - 8 UR - https://doi.org/10.1038/nrm2197 DO - 10.1038/nrm2197 ID - Herrmann2007 ER - TY - JOUR AU - Qin, Z. AU - Kreplak, L. AU - Buehler, M. J. PY - 2009 DA - 2009// TI - Hierarchical structure controls nanomechanical properties of vimentin intermediate filaments JO - PLoS One VL - 4 UR - https://doi.org/10.1371/journal.pone.0007294 DO - 10.1371/journal.pone.0007294 ID - Qin2009 ER - TY - JOUR AU - Gentil, B. J. AU - Tibshirani, M. AU - Durham, H. D. PY - 2015 DA - 2015// TI - Neurofilament dynamics and involvement in neurological disorders JO - Cell Tissue Res VL - 360 UR - https://doi.org/10.1007/s00441-014-2082-7 DO - 10.1007/s00441-014-2082-7 ID - Gentil2015 ER - TY - JOUR AU - Starger, J. M. AU - Brown, W. E. AU - Goldman, A. E. AU - Goldman, R. D. PY - 1978 DA - 1978// TI - Biochemical and immunological analysis of rapidly purified 10-nm filaments from baby hamster kidney (BHK-21) cells JO - J Cell Biol VL - 78 UR - https://doi.org/10.1083/jcb.78.1.93 DO - 10.1083/jcb.78.1.93 ID - Starger1978 ER - TY - JOUR AU - Aebi, U. AU - Cohn, J. AU - Buhle, L. AU - Gerace, L. PY - 1986 DA - 1986// TI - The nuclear lamina is a meshwork of intermediate-type filaments JO - Nature. VL - 323 UR - https://doi.org/10.1038/323560a0 DO - 10.1038/323560a0 ID - Aebi1986 ER - TY - JOUR AU - Colakoglu, G. AU - Brown, A. PY - 2009 DA - 2009// TI - Intermediate filaments exchange subunits along their length and elongate by end-to-end annealing JO - J Cell Biol VL - 185 UR - https://doi.org/10.1083/jcb.200809166 DO - 10.1083/jcb.200809166 ID - Colakoglu2009 ER - TY - JOUR AU - Uchida, A. AU - Colakoglu, G. AU - Wang, L. AU - Monsma, P. C. AU - Brown, A. PY - 2013 DA - 2013// TI - Severing and end-to-end annealing of neurofilaments in neurons JO - Proc Natl Acad Sci U S A VL - 110 UR - https://doi.org/10.1073/pnas.1221835110 DO - 10.1073/pnas.1221835110 ID - Uchida2013 ER - TY - JOUR AU - Eriksson, J. E. AU - Dechat, T. AU - Grin, B. AU - Helfand, B. AU - Mendez, M. AU - Pallari, H. M. AU - Goldman, R. D. PY - 2009 DA - 2009// TI - Introducing intermediate filaments: from discovery to disease JO - J Clin Invest VL - 119 UR - https://doi.org/10.1172/JCI38339 DO - 10.1172/JCI38339 ID - Eriksson2009 ER - TY - JOUR AU - Liem, R. K. AU - Messing, A. PY - 2009 DA - 2009// TI - Dysfunctions of neuronal and glial intermediate filaments in disease JO - J Clin Invest VL - 119 UR - https://doi.org/10.1172/JCI38003 DO - 10.1172/JCI38003 ID - Liem2009 ER - TY - JOUR AU - Julien, J. P. PY - 1999 DA - 1999// TI - Neurofilament functions in health and disease JO - Curr Opin Neurobiol VL - 9 UR - https://doi.org/10.1016/S0959-4388(99)00004-5 DO - 10.1016/S0959-4388(99)00004-5 ID - Julien1999 ER - TY - JOUR AU - Rao, M. V. AU - Mohan, P. S. AU - Kumar, A. AU - Yuan, A. AU - Montagna, L. AU - Campbell, J. AU - Veeranna, E. E. M. AU - Julien, J. P. AU - Nixon, R. A. PY - 2011 DA - 2011// TI - The myosin Va head domain binds to the neurofilament-L rod and modulates endoplasmic reticulum (ER) content and distribution within axons JO - PLoS One VL - 6 UR - https://doi.org/10.1371/journal.pone.0017087 DO - 10.1371/journal.pone.0017087 ID - Rao2011 ER - TY - JOUR AU - Ehlers, M. D. AU - Fung, E. T. AU - O'Brien, R. J. AU - Huganir, R. L. PY - 1998 DA - 1998// TI - Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments JO - J Neurosci VL - 18 UR - https://doi.org/10.1523/JNEUROSCI.18-02-00720.1998 DO - 10.1523/JNEUROSCI.18-02-00720.1998 ID - Ehlers1998 ER - TY - JOUR AU - Kim, O. J. AU - Ariano, M. A. AU - Lazzarini, R. A. AU - Levine, M. S. AU - Sibley, D. R. PY - 2002 DA - 2002// TI - Neurofilament-M interacts with the D1 dopamine receptor to regulate cell surface expression and desensitization JO - J Neurosci VL - 22 UR - https://doi.org/10.1523/JNEUROSCI.22-14-05920.2002 DO - 10.1523/JNEUROSCI.22-14-05920.2002 ID - Kim2002 ER - TY - JOUR AU - Miyasaka, H. AU - Okabe, S. AU - Ishiguro, K. AU - Uchida, T. AU - Hirokawa, N. PY - 1993 DA - 1993// TI - Interaction of the tail domain of high molecular weight subunits of neurofilaments with the COOH-terminal region of tubulin and its regulation by tau protein kinase II JO - J Biol Chem VL - 268 ID - Miyasaka1993 ER - TY - JOUR AU - Bocquet, A. AU - Berges, R. AU - Frank, R. AU - Robert, P. AU - Peterson, A. C. AU - Eyer, J. PY - 2009 DA - 2009// TI - Neurofilaments bind tubulin and modulate its polymerization JO - J Neurosci VL - 29 UR - https://doi.org/10.1523/JNEUROSCI.1924-09.2009 DO - 10.1523/JNEUROSCI.1924-09.2009 ID - Bocquet2009 ER - TY - JOUR AU - Yuan, A. AU - Nixon, R. A. PY - 2016 DA - 2016// TI - Specialized roles of neurofilament proteins in synapses: relevance to neuropsychiatric disorders JO - Brain Res Bull VL - 126 UR - https://doi.org/10.1016/j.brainresbull.2016.09.002 DO - 10.1016/j.brainresbull.2016.09.002 ID - Yuan2016 ER - TY - JOUR AU - Yuan, A. AU - Rao, M. V. AU - Veeranna, N. R. A. PY - 2012 DA - 2012// TI - Neurofilaments at a glance JO - J Cell Sci VL - 125 UR - https://doi.org/10.1242/jcs.104729 DO - 10.1242/jcs.104729 ID - Yuan2012 ER - TY - JOUR AU - Snider, N. T. AU - Omary, M. B. PY - 2014 DA - 2014// TI - Post-translational modifications of intermediate filament proteins: mechanisms and functions JO - Nat Rev Mol Cell Biol. VL - 15 UR - https://doi.org/10.1038/nrm3753 DO - 10.1038/nrm3753 ID - Snider2014 ER - TY - JOUR AU - Sihag, R. K. AU - Nixon, R. A. PY - 1991 DA - 1991// TI - Identification of Ser-55 as a major protein kinase a phosphorylation site on the 70-kDa subunit of neurofilaments. Early turnover during axonal transport JO - J Biol Chem VL - 266 ID - Sihag1991 ER - TY - JOUR AU - Sihag, R. K. AU - Jaffe, H. AU - Nixon, R. A. AU - Rong, X. PY - 1999 DA - 1999// TI - Serine-23 is a major protein kinase a phosphorylation site on the amino-terminal head domain of the middle molecular mass subunit of neurofilament proteins JO - J Neurochem VL - 72 UR - https://doi.org/10.1046/j.1471-4159.1999.0720491.x DO - 10.1046/j.1471-4159.1999.0720491.x ID - Sihag1999 ER - TY - JOUR AU - Yates, D. M. AU - Manser, C. AU - Vos, K. J. AU - Shaw, C. E. AU - McLoughlin, D. M. AU - Miller, C. C. PY - 2009 DA - 2009// TI - Neurofilament subunit (NFL) head domain phosphorylation regulates axonal transport of neurofilaments JO - Eur J Cell Biol VL - 88 UR - https://doi.org/10.1016/j.ejcb.2008.11.004 DO - 10.1016/j.ejcb.2008.11.004 ID - Yates2009 ER - TY - STD TI - Yuan A, Rao MV, Veeranna NRA. Neurofilaments and Neurofilament proteins in health and disease. Cold Spring Harb Perspect Biol. 2017;9:a018309. ID - ref54 ER - TY - JOUR AU - Shetty, K. T. AU - Link, W. T. AU - Pant, H. C. PY - 1993 DA - 1993// TI - cdc2-like kinase from rat spinal cord specifically phosphorylates KSPXK motifs in neurofilament proteins: isolation and characterization JO - Proc Natl Acad Sci U S A VL - 90 UR - https://doi.org/10.1073/pnas.90.14.6844 DO - 10.1073/pnas.90.14.6844 ID - Shetty1993 ER - TY - JOUR AU - Kesavapany, S. AU - Li, B. S. AU - Pant, H. C. PY - 2003 DA - 2003// TI - Cyclin-dependent kinase 5 in neurofilament function and regulation JO - Neurosignals. VL - 12 UR - https://doi.org/10.1159/000074627 DO - 10.1159/000074627 ID - Kesavapany2003 ER - TY - JOUR AU - Veeranna, A. N. D. AU - Ahn, N. G. AU - Jaffe, H. AU - Winters, C. A. AU - Grant, P. AU - Pant, H. C. PY - 1998 DA - 1998// TI - Mitogen-activated protein kinases (Erk1,2) phosphorylate Lys-Ser-pro (KSP) repeats in neurofilament proteins NF-H and NF-M JO - J Neurosci VL - 18 UR - https://doi.org/10.1523/JNEUROSCI.18-11-04008.1998 DO - 10.1523/JNEUROSCI.18-11-04008.1998 ID - Veeranna1998 ER - TY - JOUR AU - Xu, Z. S. AU - Liu, W. S. AU - Willard, M. B. PY - 1992 DA - 1992// TI - Identification of six phosphorylation sites in the COOH-terminal tail region of the rat neurofilament protein M JO - J Biol Chem VL - 267 ID - Xu1992 ER - TY - JOUR AU - Garcia, M. L. AU - Rao, M. V. AU - Fujimoto, J. AU - Garcia, V. B. AU - Shah, S. B. AU - Crum, J. AU - Gotow, T. AU - Uchiyama, Y. AU - Ellisman, M. AU - Calcutt, N. A. AU - Cleveland, D. W. PY - 2009 DA - 2009// TI - Phosphorylation of highly conserved neurofilament medium KSP repeats is not required for myelin-dependent radial axonal growth JO - J Neurosci VL - 29 UR - https://doi.org/10.1523/JNEUROSCI.3765-08.2009 DO - 10.1523/JNEUROSCI.3765-08.2009 ID - Garcia2009 ER - TY - JOUR AU - Zheng, Y. L. AU - Li, B. S. AU - Veeranna, P. H. C. PY - 2003 DA - 2003// TI - Phosphorylation of the head domain of neurofilament protein (NF-M): a factor regulating topographic phosphorylation of NF-M tail domain KSP sites in neurons JO - J Biol Chem VL - 278 UR - https://doi.org/10.1074/jbc.M303079200 DO - 10.1074/jbc.M303079200 ID - Zheng2003 ER - TY - JOUR AU - Dong, D. L. AU - Xu, Z. S. AU - Hart, G. W. AU - Cleveland, D. W. PY - 1996 DA - 1996// TI - Cytoplasmic O-GlcNAc modification of the head domain and the KSP repeat motif of the neurofilament protein neurofilament-H JO - J Biol Chem VL - 271 UR - https://doi.org/10.1074/jbc.271.34.20845 DO - 10.1074/jbc.271.34.20845 ID - Dong1996 ER - TY - JOUR AU - Sihag, R. K. AU - Inagaki, M. AU - Yamaguchi, T. AU - Shea, T. B. AU - Pant, H. C. PY - 2007 DA - 2007// TI - Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments JO - Exp Cell Res VL - 313 UR - https://doi.org/10.1016/j.yexcr.2007.04.010 DO - 10.1016/j.yexcr.2007.04.010 ID - Sihag2007 ER - TY - JOUR AU - Nukina, N. AU - Kosik, K. S. AU - Selkoe, D. J. PY - 1987 DA - 1987// TI - Recognition of Alzheimer paired helical filaments by monoclonal neurofilament antibodies is due to crossreaction with tau protein JO - Proc Natl Acad Sci U S A VL - 84 UR - https://doi.org/10.1073/pnas.84.10.3415 DO - 10.1073/pnas.84.10.3415 ID - Nukina1987 ER - TY - JOUR AU - Ksiezak-Reding, H. AU - Dickson, D. W. AU - Davies, P. AU - Yen, S. H. PY - 1987 DA - 1987// TI - Recognition of tau epitopes by anti-neurofilament antibodies that bind to Alzheimer neurofibrillary tangles JO - Proc Natl Acad Sci U S A VL - 84 UR - https://doi.org/10.1073/pnas.84.10.3410 DO - 10.1073/pnas.84.10.3410 ID - Ksiezak-Reding1987 ER - TY - JOUR AU - Lichtenberg-Kraag, B. AU - Mandelkow, E. M. AU - Biernat, J. AU - Steiner, B. AU - Schroter, C. AU - Gustke, N. AU - Meyer, H. E. AU - Mandelkow, E. PY - 1992 DA - 1992// TI - Phosphorylation-dependent epitopes of neurofilament antibodies on tau protein and relationship with Alzheimer tau JO - Proc Natl Acad Sci U S A VL - 89 UR - https://doi.org/10.1073/pnas.89.12.5384 DO - 10.1073/pnas.89.12.5384 ID - Lichtenberg-Kraag1992 ER - TY - JOUR AU - Sibille, N. AU - Huvent, I. AU - Fauquant, C. AU - Verdegem, D. AU - Amniai, L. AU - Leroy, A. AU - Wieruszeski, J. M. AU - Lippens, G. AU - Landrieu, I. PY - 2012 DA - 2012// TI - Structural characterization by nuclear magnetic resonance of the impact of phosphorylation in the proline-rich region of the disordered tau protein JO - Proteins. VL - 80 UR - https://doi.org/10.1002/prot.23210 DO - 10.1002/prot.23210 ID - Sibille2012 ER - TY - JOUR AU - Lyons, A. J. AU - Gandhi, N. S. AU - Mancera, R. L. PY - 2014 DA - 2014// TI - Molecular dynamics simulation of the phosphorylation-induced conformational changes of a tau peptide fragment JO - Proteins. VL - 82 UR - https://doi.org/10.1002/prot.24544 DO - 10.1002/prot.24544 ID - Lyons2014 ER - TY - JOUR AU - Ackerley, S. AU - Thornhill, P. AU - Grierson, A. J. AU - Brownlees, J. AU - Anderton, B. H. AU - Leigh, P. N. AU - Shaw, C. E. AU - Miller, C. C. PY - 2003 DA - 2003// TI - Neurofilament heavy chain side arm phosphorylation regulates axonal transport of neurofilaments JO - J Cell Biol VL - 161 UR - https://doi.org/10.1083/jcb.200303138 DO - 10.1083/jcb.200303138 ID - Ackerley2003 ER - TY - JOUR AU - Shea, T. B. AU - Yabe, J. T. AU - Ortiz, D. AU - Pimenta, A. AU - Loomis, P. AU - Goldman, R. D. AU - Amin, N. AU - Pant, H. C. PY - 2004 DA - 2004// TI - Cdk5 regulates axonal transport and phosphorylation of neurofilaments in cultured neurons JO - J Cell Sci VL - 117 UR - https://doi.org/10.1242/jcs.00785 DO - 10.1242/jcs.00785 ID - Shea2004 ER - TY - JOUR AU - Goldstein, M. E. AU - Sternberger, N. H. AU - Sternberger, L. A. PY - 1987 DA - 1987// TI - Phosphorylation protects neurofilaments against proteolysis JO - J Neuroimmunol VL - 14 UR - https://doi.org/10.1016/0165-5728(87)90049-X DO - 10.1016/0165-5728(87)90049-X ID - Goldstein1987 ER - TY - JOUR AU - Pant, H. C. PY - 1988 DA - 1988// TI - Dephosphorylation of neurofilament proteins enhances their susceptibility to degradation by calpain JO - Biochem J VL - 256 UR - https://doi.org/10.1042/bj2560665 DO - 10.1042/bj2560665 ID - Pant1988 ER - TY - JOUR AU - Cote, F. AU - Collard, J. F. AU - Julien, J. P. PY - 1993 DA - 1993// TI - Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis JO - Cell. VL - 73 UR - https://doi.org/10.1016/0092-8674(93)90158-M DO - 10.1016/0092-8674(93)90158-M ID - Cote1993 ER - TY - JOUR AU - Marszalek, J. R. AU - Williamson, T. L. AU - Lee, M. K. AU - Xu, Z. AU - Hoffman, P. N. AU - Becher, M. W. AU - Crawford, T. O. AU - Cleveland, D. W. PY - 1996 DA - 1996// TI - Neurofilament subunit NF-H modulates axonal diameter by selectively slowing neurofilament transport JO - J Cell Biol VL - 135 UR - https://doi.org/10.1083/jcb.135.3.711 DO - 10.1083/jcb.135.3.711 ID - Marszalek1996 ER - TY - JOUR AU - Eyer, J. AU - Peterson, A. PY - 1994 DA - 1994// TI - Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein JO - Neuron. VL - 12 UR - https://doi.org/10.1016/0896-6273(94)90280-1 DO - 10.1016/0896-6273(94)90280-1 ID - Eyer1994 ER - TY - JOUR AU - Rao, M. V. AU - Garcia, M. L. AU - Miyazaki, Y. AU - Gotow, T. AU - Yuan, A. AU - Mattina, S. AU - Ward, C. M. AU - Calcutt, N. A. AU - Uchiyama, Y. AU - Nixon, R. A. AU - Cleveland, D. W. PY - 2002 DA - 2002// TI - 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 JO - J Cell Biol VL - 158 UR - https://doi.org/10.1083/jcb.200202037 DO - 10.1083/jcb.200202037 ID - Rao2002 ER - TY - JOUR AU - Gama Sosa, M. A. AU - Friedrich, V. L. AU - DeGasperi, R. AU - Kelley, K. AU - Wen, P. H. AU - Senturk, E. AU - Lazzarini, R. A. AU - Elder, G. A. PY - 2003 DA - 2003// TI - Human midsized neurofilament subunit induces motor neuron disease in transgenic mice JO - Exp Neurol VL - 184 UR - https://doi.org/10.1016/S0014-4886(03)00206-1 DO - 10.1016/S0014-4886(03)00206-1 ID - Gama Sosa2003 ER - TY - JOUR AU - Lee, V. M. AU - Elder, G. A. AU - Chen, L. C. AU - Liang, Z. AU - Snyder, S. E. AU - Friedrich, V. L. AU - Lazzarini, R. A. PY - 1992 DA - 1992// TI - Expression of human mid-sized neurofilament subunit in transgenic mice JO - Brain Res Mol Brain Res VL - 15 UR - https://doi.org/10.1016/0169-328X(92)90154-4 DO - 10.1016/0169-328X(92)90154-4 ID - Lee1992 ER - TY - JOUR AU - Vickers, J. C. AU - Morrison, J. H. AU - Friedrich, V. L. AU - Elder, G. A. AU - Perl, D. P. AU - Katz, R. N. AU - Lazzarini, R. A. PY - 1994 DA - 1994// TI - Age-associated and cell-type-specific neurofibrillary pathology in transgenic mice expressing the human midsized neurofilament subunit JO - J Neurosci VL - 14 UR - https://doi.org/10.1523/JNEUROSCI.14-09-05603.1994 DO - 10.1523/JNEUROSCI.14-09-05603.1994 ID - Vickers1994 ER - TY - JOUR AU - Elder, G. A. AU - Friedrich, V. L. AU - Liang, Z. AU - Li, X. AU - Lazzarini, R. A. PY - 1994 DA - 1994// TI - Enhancer trapping by a human mid-sized neurofilament transgene reveals unexpected patterns of neuronal enhancer activity JO - Brain Res Mol Brain Res VL - 26 UR - https://doi.org/10.1016/0169-328X(94)90089-2 DO - 10.1016/0169-328X(94)90089-2 ID - Elder1994 ER - TY - JOUR AU - Tu, P. H. AU - Elder, G. AU - Lazzarini, R. A. AU - Nelson, D. AU - Trojanowski, J. Q. AU - Lee, V. M. PY - 1995 DA - 1995// TI - Overexpression of the human NFM subunit in transgenic mice modifies the level of endogenous NFL and the phosphorylation state of NFH subunits JO - J Cell Biol VL - 129 UR - https://doi.org/10.1083/jcb.129.6.1629 DO - 10.1083/jcb.129.6.1629 ID - Tu1995 ER - TY - JOUR AU - Wong, P. C. AU - Marszalek, J. AU - Crawford, T. O. AU - Xu, Z. AU - Hsieh, S. T. AU - Griffin, J. W. AU - Cleveland, D. W. PY - 1995 DA - 1995// TI - Increasing neurofilament subunit NF-M expression reduces axonal NF-H, inhibits radial growth, and results in neurofilamentous accumulation in motor neurons JO - J Cell Biol VL - 130 UR - https://doi.org/10.1083/jcb.130.6.1413 DO - 10.1083/jcb.130.6.1413 ID - Wong1995 ER - TY - JOUR AU - Rao, M. V. AU - Campbell, J. AU - Yuan, A. AU - Kumar, A. AU - Gotow, T. AU - Uchiyama, Y. AU - Nixon, R. A. PY - 2003 DA - 2003// TI - 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 JO - J Cell Biol VL - 163 UR - https://doi.org/10.1083/jcb.200308076 DO - 10.1083/jcb.200308076 ID - Rao2003 ER - TY - JOUR AU - Monteiro, M. J. AU - Hoffman, P. N. AU - Gearhart, J. D. AU - Cleveland, D. W. PY - 1990 DA - 1990// TI - Expression of NF-L in both neuronal and nonneuronal cells of transgenic mice: increased neurofilament density in axons without affecting caliber JO - J Cell Biol VL - 111 UR - https://doi.org/10.1083/jcb.111.4.1543 DO - 10.1083/jcb.111.4.1543 ID - Monteiro1990 ER - TY - JOUR AU - Xu, Z. AU - Cork, L. C. AU - Griffin, J. W. AU - Cleveland, D. W. PY - 1993 DA - 1993// TI - Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease JO - Cell. VL - 73 UR - https://doi.org/10.1016/0092-8674(93)90157-L DO - 10.1016/0092-8674(93)90157-L ID - Xu1993 ER - TY - JOUR AU - Lee, M. K. AU - Marszalek, J. R. AU - Cleveland, D. W. PY - 1994 DA - 1994// TI - A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease JO - Neuron. VL - 13 UR - https://doi.org/10.1016/0896-6273(94)90263-1 DO - 10.1016/0896-6273(94)90263-1 ID - Lee1994 ER - TY - JOUR AU - Dequen, F. AU - Filali, M. AU - Lariviere, R. C. AU - Perrot, R. AU - Hisanaga, S. AU - Julien, J. P. PY - 2010 DA - 2010// TI - Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-tooth disease type 2E JO - Hum Mol Genet VL - 19 UR - https://doi.org/10.1093/hmg/ddq149 DO - 10.1093/hmg/ddq149 ID - Dequen2010 ER - TY - JOUR AU - Adebola, A. A. AU - Castri, T. AU - He, C. Z. AU - Salvatierra, L. A. AU - Zhao, J. AU - Brown, K. AU - Lin, C. S. AU - Worman, H. J. AU - Liem, R. K. PY - 2015 DA - 2015// TI - Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-tooth type 2E phenotype JO - Hum Mol Genet VL - 24 UR - https://doi.org/10.1093/hmg/ddu736 DO - 10.1093/hmg/ddu736 ID - Adebola2015 ER - TY - JOUR AU - Beaulieu, J. M. AU - Nguyen, M. D. AU - Julien, J. P. PY - 1999 DA - 1999// TI - Late onset of motor neurons in mice overexpressing wild-type peripherin JO - J Cell Biol VL - 147 UR - https://doi.org/10.1083/jcb.147.3.531 DO - 10.1083/jcb.147.3.531 ID - Beaulieu1999 ER - TY - JOUR AU - Ching, G. Y. AU - Chien, C. L. AU - Flores, R. AU - Liem, R. K. PY - 1999 DA - 1999// TI - Overexpression of alpha-internexin causes abnormal neurofilamentous accumulations and motor coordination deficits in transgenic mice JO - J Neurosci VL - 19 UR - https://doi.org/10.1523/JNEUROSCI.19-08-02974.1999 DO - 10.1523/JNEUROSCI.19-08-02974.1999 ID - Ching1999 ER - TY - JOUR AU - Goldman, J. E. AU - Yen, S. H. PY - 1986 DA - 1986// TI - Cytoskeletal protein abnormalities in neurodegenerative diseases JO - Ann Neurol VL - 19 UR - https://doi.org/10.1002/ana.410190302 DO - 10.1002/ana.410190302 ID - Goldman1986 ER - TY - JOUR AU - Fabrizi, G. M. AU - Cavallaro, T. AU - Angiari, C. AU - Cabrini, I. AU - Taioli, F. AU - Malerba, G. AU - Bertolasi, L. AU - Rizzuto, N. PY - 2007 DA - 2007// TI - Charcot-Marie-tooth disease type 2E, a disorder of the cytoskeleton JO - Brain. VL - 130 UR - https://doi.org/10.1093/brain/awl284 DO - 10.1093/brain/awl284 ID - Fabrizi2007 ER - TY - JOUR AU - Yum, S. W. AU - Zhang, J. AU - Mo, K. AU - Li, J. AU - Scherer, S. S. PY - 2009 DA - 2009// TI - A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy JO - Ann Neurol VL - 66 UR - https://doi.org/10.1002/ana.21728 DO - 10.1002/ana.21728 ID - Yum2009 ER - TY - JOUR AU - Rebelo, A. P. AU - Abrams, A. J. AU - Cottenie, E. AU - Horga, A. AU - Gonzalez, M. AU - Bis, D. M. AU - Sanchez-Mejias, A. AU - Pinto, M. AU - Buglo, E. AU - Markel, K. PY - 2016 DA - 2016// TI - Cryptic Amyloidogenic elements in the 3′ UTRs of Neurofilament genes trigger axonal neuropathy JO - Am J Hum Genet VL - 98 UR - https://doi.org/10.1016/j.ajhg.2016.02.022 DO - 10.1016/j.ajhg.2016.02.022 ID - Rebelo2016 ER - TY - JOUR AU - Koch, T. AU - Schultz, P. AU - Williams, R. AU - Lampert, P. PY - 1977 DA - 1977// TI - Giant axonal neuropathy: a childhood disorder of microfilaments JO - Ann Neurol VL - 1 UR - https://doi.org/10.1002/ana.410010507 DO - 10.1002/ana.410010507 ID - Koch1977 ER - TY - JOUR AU - Klein, C. J. AU - Wu, Y. AU - Vogel, P. AU - Goebel, H. H. AU - Bonnemann, C. AU - Zukosky, K. AU - Botuyan, M. V. AU - Duan, X. AU - Middha, S. AU - Atkinson, E. J. PY - 2014 DA - 2014// TI - Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons JO - Neurology. VL - 82 UR - https://doi.org/10.1212/WNL.0000000000000206 DO - 10.1212/WNL.0000000000000206 ID - Klein2014 ER - TY - JOUR AU - Zhai, J. AU - Lin, H. AU - Julien, J. P. AU - Schlaepfer, W. W. PY - 2007 DA - 2007// TI - 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 JO - Hum Mol Genet VL - 16 UR - https://doi.org/10.1093/hmg/ddm272 DO - 10.1093/hmg/ddm272 ID - Zhai2007 ER - TY - JOUR AU - Tang, B. S. AU - Zhao, G. H. AU - Luo, W. AU - Xia, K. AU - Cai, F. AU - Pan, Q. AU - Zhang, R. X. AU - Zhang, F. F. AU - Liu, X. M. AU - Chen, B. PY - 2005 DA - 2005// TI - Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-tooth disease type 2L JO - Hum Genet VL - 116 UR - https://doi.org/10.1007/s00439-004-1218-3 DO - 10.1007/s00439-004-1218-3 ID - Tang2005 ER - TY - JOUR AU - Ylikallio, E. AU - Poyhonen, R. AU - Zimon, M. AU - Vriendt, E. AU - Hilander, T. AU - Paetau, A. AU - Jordanova, A. AU - Lonnqvist, T. AU - Tyynismaa, H. PY - 2013 DA - 2013// TI - Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy JO - Hum Mol Genet VL - 22 UR - https://doi.org/10.1093/hmg/ddt149 DO - 10.1093/hmg/ddt149 ID - Ylikallio2013 ER - TY - JOUR AU - Jaffer, F. AU - Murphy, S. M. AU - Scoto, M. AU - Healy, E. AU - Rossor, A. M. AU - Brandner, S. AU - Phadke, R. AU - Selcen, D. AU - Jungbluth, H. AU - Muntoni, F. AU - Reilly, M. M. PY - 2012 DA - 2012// TI - BAG3 mutations: another cause of giant axonal neuropathy JO - J Peripher Nerv Syst VL - 17 UR - https://doi.org/10.1111/j.1529-8027.2012.00409.x DO - 10.1111/j.1529-8027.2012.00409.x ID - Jaffer2012 ER - TY - JOUR AU - Szeverenyi, I. AU - Cassidy, A. J. AU - Chung, C. W. AU - Lee, B. T. AU - Common, J. E. AU - Ogg, S. C. AU - Chen, H. AU - Sim, S. Y. AU - Goh, W. L. AU - Ng, K. W. PY - 2008 DA - 2008// TI - The human intermediate filament database: comprehensive information on a gene family involved in many human diseases JO - Hum Mutat VL - 29 UR - https://doi.org/10.1002/humu.20652 DO - 10.1002/humu.20652 ID - Szeverenyi2008 ER - TY - JOUR AU - Sasaki, T. AU - Gotow, T. AU - Shiozaki, M. AU - Sakaue, F. AU - Saito, T. AU - Julien, J. P. AU - Uchiyama, Y. AU - Hisanaga, S. PY - 2006 DA - 2006// TI - Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-tooth disease mutants JO - Hum Mol Genet VL - 15 UR - https://doi.org/10.1093/hmg/ddl011 DO - 10.1093/hmg/ddl011 ID - Sasaki2006 ER - TY - JOUR AU - Al-Chalabi, A. AU - Andersen, P. M. AU - Nilsson, P. AU - Chioza, B. AU - Andersson, J. L. AU - Russ, C. AU - Shaw, C. E. AU - Powell, J. F. AU - Leigh, P. N. PY - 1999 DA - 1999// TI - Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis JO - Hum Mol Genet VL - 8 UR - https://doi.org/10.1093/hmg/8.2.157 DO - 10.1093/hmg/8.2.157 ID - Al-Chalabi1999 ER - TY - JOUR AU - Corrado, L. AU - Carlomagno, Y. AU - Falasco, L. AU - Mellone, S. AU - Godi, M. AU - Cova, E. AU - Cereda, C. AU - Testa, L. AU - Mazzini, L. AU - D'Alfonso, S. PY - 2011 DA - 2011// TI - A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient JO - Neurobiol Aging VL - 32 UR - https://doi.org/10.1016/j.neurobiolaging.2010.02.011 DO - 10.1016/j.neurobiolaging.2010.02.011 ID - Corrado2011 ER - TY - JOUR AU - Brownlees, J. AU - Ackerley, S. AU - Grierson, A. J. AU - Jacobsen, N. J. AU - Shea, K. AU - Anderton, B. H. AU - Leigh, P. N. AU - Shaw, C. E. AU - Miller, C. C. PY - 2002 DA - 2002// TI - Charcot-Marie-tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport JO - Hum Mol Genet VL - 11 UR - https://doi.org/10.1093/hmg/11.23.2837 DO - 10.1093/hmg/11.23.2837 ID - Brownlees2002 ER - TY - JOUR AU - Perez-Olle, R. AU - Jones, S. T. AU - Liem, R. K. PY - 2004 DA - 2004// TI - Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-tooth disease in cell culture models JO - Hum Mol Genet VL - 13 UR - https://doi.org/10.1093/hmg/ddh236 DO - 10.1093/hmg/ddh236 ID - Perez-Olle2004 ER - TY - JOUR AU - Perez-Olle, R. AU - Lopez-Toledano, M. A. AU - Goryunov, D. AU - Cabrera-Poch, N. AU - Stefanis, L. AU - Brown, K. AU - Liem, R. K. PY - 2005 DA - 2005// TI - Mutations in the neurofilament light gene linked to Charcot-Marie-tooth disease cause defects in transport JO - J Neurochem VL - 93 UR - https://doi.org/10.1111/j.1471-4159.2005.03095.x DO - 10.1111/j.1471-4159.2005.03095.x ID - Perez-Olle2005 ER - TY - JOUR AU - Gentil, B. J. AU - Minotti, S. AU - Beange, M. AU - Baloh, R. H. AU - Julien, J. P. AU - Durham, H. D. PY - 2012 DA - 2012// TI - Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-tooth disease JO - FASEB J VL - 26 UR - https://doi.org/10.1096/fj.11-196345 DO - 10.1096/fj.11-196345 ID - Gentil2012 ER - TY - JOUR AU - Tradewell, M. L. AU - Durham, H. D. AU - Mushynski, W. E. AU - Gentil, B. J. PY - 2009 DA - 2009// TI - 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 JO - J Neuropathol Exp Neurol VL - 68 UR - https://doi.org/10.1097/NEN.0b013e3181a5deeb DO - 10.1097/NEN.0b013e3181a5deeb ID - Tradewell2009 ER - TY - JOUR AU - Abe, A. AU - Numakura, C. AU - Saito, K. AU - Koide, H. AU - Oka, N. AU - Honma, A. AU - Kishikawa, Y. AU - Hayasaka, K. PY - 2009 DA - 2009// TI - Neurofilament light chain polypeptide gene mutations in Charcot-Marie-tooth disease: nonsense mutation probably causes a recessive phenotype JO - J Hum Genet VL - 54 UR - https://doi.org/10.1038/jhg.2008.13 DO - 10.1038/jhg.2008.13 ID - Abe2009 ER - TY - JOUR AU - Fu, J. AU - Yuan, Y. PY - 2018 DA - 2018// TI - A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-tooth disease JO - Neuromuscul Disord VL - 28 UR - https://doi.org/10.1016/j.nmd.2017.09.018 DO - 10.1016/j.nmd.2017.09.018 ID - Fu2018 ER - TY - JOUR AU - Yuan, A. AU - Sasaki, T. AU - Rao, M. V. AU - Kumar, A. AU - Kanumuri, V. AU - Dunlop, D. S. AU - Liem, R. K. AU - Nixon, R. A. PY - 2009 DA - 2009// TI - Neurofilaments form a highly stable stationary cytoskeleton after reaching a critical level in axons JO - J Neurosci VL - 29 UR - https://doi.org/10.1523/JNEUROSCI.1942-09.2009 DO - 10.1523/JNEUROSCI.1942-09.2009 ID - Yuan2009 ER - TY - JOUR AU - Ben Hamida, M. AU - Hentati, F. AU - Ben Hamida, C. PY - 1990 DA - 1990// TI - Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred JO - Neurology. VL - 40 UR - https://doi.org/10.1212/WNL.40.2.245 DO - 10.1212/WNL.40.2.245 ID - Ben Hamida1990 ER - TY - JOUR AU - Bomont, P. AU - Cavalier, L. AU - Blondeau, F. AU - Ben Hamida, C. AU - Belal, S. AU - Tazir, M. AU - Demir, E. AU - Topaloglu, H. AU - Korinthenberg, R. AU - Tuysuz, B. PY - 2000 DA - 2000// TI - The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy JO - Nat Genet VL - 26 UR - https://doi.org/10.1038/81701 DO - 10.1038/81701 ID - Bomont2000 ER - TY - JOUR AU - Mahammad, S. AU - Murthy, S. N. AU - Didonna, A. AU - Grin, B. AU - Israeli, E. AU - Perrot, R. AU - Bomont, P. AU - Julien, J. P. AU - Kuczmarski, E. AU - Opal, P. AU - Goldman, R. D. PY - 2013 DA - 2013// TI - Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation JO - J Clin Invest VL - 123 UR - https://doi.org/10.1172/JCI66387 DO - 10.1172/JCI66387 ID - Mahammad2013 ER - TY - JOUR AU - Lin, N. H. AU - Huang, Y. S. AU - Opal, P. AU - Goldman, R. D. AU - Messing, A. AU - Perng, M. D. PY - 2016 DA - 2016// TI - The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP JO - Mol Biol Cell VL - 27 UR - https://doi.org/10.1091/mbc.e16-06-0362 DO - 10.1091/mbc.e16-06-0362 ID - Lin2016 ER - TY - JOUR AU - Opal, P. AU - Goldman, R. D. PY - 2013 DA - 2013// TI - Explaining intermediate filament accumulation in giant axonal neuropathy JO - Rare Dis VL - 1 UR - https://doi.org/10.4161/rdis.25378 DO - 10.4161/rdis.25378 ID - Opal2013 ER - TY - JOUR AU - Israeli, E. AU - Dryanovski, D. I. AU - Schumacker, P. T. AU - Chandel, N. S. AU - Singer, J. D. AU - Julien, J. P. AU - Goldman, R. D. AU - Opal, P. PY - 2016 DA - 2016// TI - Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy JO - Hum Mol Genet VL - 25 UR - https://doi.org/10.1093/hmg/ddw081 DO - 10.1093/hmg/ddw081 ID - Israeli2016 ER - TY - JOUR AU - Lowery, J. AU - Jain, N. AU - Kuczmarski, E. R. AU - Mahammad, S. AU - Goldman, A. AU - Gelfand, V. I. AU - Opal, P. AU - Goldman, R. D. PY - 2016 DA - 2016// TI - Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts JO - Mol Biol Cell VL - 27 UR - https://doi.org/10.1091/mbc.E15-09-0627 DO - 10.1091/mbc.E15-09-0627 ID - Lowery2016 ER - TY - JOUR AU - Veena, M. S. AU - Wilken, R. AU - Zheng, J. Y. AU - Gholkar, A. AU - Venkatesan, N. AU - Vira, D. AU - Ahmed, S. AU - Basak, S. K. AU - Dalgard, C. L. AU - Ravichandran, S. PY - 2014 DA - 2014// TI - p16 protein and gigaxonin are associated with the ubiquitination of NFkappaB in cisplatin-induced senescence of cancer cells JO - J Biol Chem VL - 289 UR - https://doi.org/10.1074/jbc.M114.568543 DO - 10.1074/jbc.M114.568543 ID - Veena2014 ER - TY - JOUR AU - Scrivo, A. AU - Codogno, P. AU - Bomont, P. PY - 2019 DA - 2019// TI - Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production JO - Nat Commun VL - 10 UR - https://doi.org/10.1038/s41467-019-08331-w DO - 10.1038/s41467-019-08331-w ID - Scrivo2019 ER - TY - JOUR AU - Bailey, R. M. AU - Armao, D. AU - Nagabhushan Kalburgi, S. AU - Gray, S. J. PY - 2018 DA - 2018// TI - Development of intrathecal AAV9 gene therapy for Giant axonal neuropathy JO - Mol Ther Methods Clin Dev VL - 9 UR - https://doi.org/10.1016/j.omtm.2018.02.005 DO - 10.1016/j.omtm.2018.02.005 ID - Bailey2018 ER - TY - JOUR AU - Gong, C. X. AU - Singh, T. J. AU - Grundke-Iqbal, I. AU - Iqbal, K. PY - 1993 DA - 1993// TI - Phosphoprotein phosphatase activities in Alzheimer disease brain JO - J Neurochem VL - 61 UR - https://doi.org/10.1111/j.1471-4159.1993.tb03603.x DO - 10.1111/j.1471-4159.1993.tb03603.x ID - Gong1993 ER - TY - JOUR AU - Gong, C. X. AU - Shaikh, S. AU - Wang, J. Z. AU - Zaidi, T. AU - Grundke-Iqbal, I. AU - Iqbal, K. PY - 1995 DA - 1995// TI - Phosphatase activity toward abnormally phosphorylated tau: decrease in Alzheimer disease brain JO - J Neurochem VL - 65 UR - https://doi.org/10.1046/j.1471-4159.1995.65020732.x DO - 10.1046/j.1471-4159.1995.65020732.x ID - Gong1995 ER - TY - JOUR AU - Veeranna, K. T. AU - Boland, B. AU - Odrljin, T. AU - Mohan, P. AU - Basavarajappa, B. S. AU - Peterhoff, C. AU - Cataldo, A. AU - Rudnicki, A. AU - Amin, N. PY - 2004 DA - 2004// TI - Calpain mediates calcium-induced activation of the erk1,2 MAPK pathway and cytoskeletal phosphorylation in neurons: relevance to Alzheimer's disease JO - Am J Pathol VL - 165 UR - https://doi.org/10.1016/S0002-9440(10)63342-1 DO - 10.1016/S0002-9440(10)63342-1 ID - Veeranna2004 ER -