A common theme for axonopathies? The dependency cycle of local axon homeostasis.
axonal transport
axonopathies
axons
cytoskeleton
microtubules
neurodegeneration
Journal
Cytoskeleton (Hoboken, N.J.)
ISSN: 1949-3592
Titre abrégé: Cytoskeleton (Hoboken)
Pays: United States
ID NLM: 101523844
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
revised:
21
02
2021
received:
04
02
2021
accepted:
23
02
2021
pubmed:
14
3
2021
medline:
18
1
2022
entrez:
13
3
2021
Statut:
ppublish
Résumé
The number of acquired or inherited conditions leading to axon degeneration (from now on referred to as axonopathies) is vast. To diagnose patients, clinicians use a range of indicators including physiology, morphology, family and patient history, as well as genetics, with the specific location of the lesion within the nervous system being a prominent feature. For the neurobiologist, these criteria are often unsatisfactory, and key questions remain unanswered. For example, does it make sense that different axonopathies affect distinct neuron groups through distinct mechanisms? Would it not be more likely that there are common routes to axon degeneration? In this opinion piece, I shall pose this fundamental question and try to find answers that are hopefully thought-provoking and trigger some conceptual rethinking in the field. I will conclude by describing the 'dependency cycle of axon homeostasis' as a new approach to make sense of the intricate connections of axon biology and physiology, also suggesting that different axonopathies might share common paths to axon degeneration.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
52-63Subventions
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/I002448/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/L000717/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/M007553/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/P020151/1
Pays : United Kingdom
Informations de copyright
© 2021 The Author. Cytoskeleton published by Wiley Periodicals LLC.
Références
Adalbert, R., & Coleman, M. P. (2012). Axon pathology in age-related neurodegenerative disorders. Neuropathology and Applied Neurobiology, 39(2), 90-108.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/23046254
Alves-Silva, J., Sánchez-Soriano, N., Beaven, R., Klein, M., Parkin, J., Millard, T., … Prokop, A. (2012). Spectraplakins promote microtubule-mediated axonal growth by functioning as structural microtubule-associated proteins and EB1-dependent +TIPs (Tip Interacting Proteins). Journal of Neurosciences, 32(27), 9143-9158. https://doi.org/10.1523/JNEUROSCI.0416-12.2012
Arnold, E. S., & Fischbeck, K. H. (2018). Chapter 38-Spinal muscular atrophy, Handbook of clinical neurology (Vol. 148, pp. 591-601).
Baas, P. W., & Qiang, L. (2019). Tau: it's not what you think. Trends in Cell Biology, 29(6), 452-461. https://doi.org/10.1016/j.tcb.2019.02.007
Bamburg, J. R., & Bloom, G. S. (2009). Cytoskeletal pathologies of Alzheimer disease. Cell Motility and the Cytoskeleton, 66(8), 635-649. https://doi.org/10.1002/cm.20388
Berard-Badier, M., Gambarelli, D., Pinsard, N., Hassoun, J., & Toga, M. (1971). Infantile neuroaxonal dystrophy or Seitelberger's disease. II. Peripheral nerve involvement: Electron microscopic study in one case. Acta Neuropathology, 5, Suppl 5:30-39.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/4327376
Bird, T. (2015). Charcot-Marie-Tooth (CMT) hereditary neuropathy overview. In M. Adam, H. Ardinger, R. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa, & A. Amemiya (Eds.), GeneReviews® [Internet] (p. NMB1358). Seattle: Seattle (WA) University of Washington.
Bis-Brewer, D. M., Danzi, M. C., Wuchty, S., & Züchner, S. (2019). A network biology approach to unraveling inherited axonopathies. Scientific Reports, 9(1), 1692. https://doi.org/10.1038/s41598-018-37119-z
Blackstone, C. (2018). Chapter 41-Hereditary spastic paraplegia. In D. H. Geschwind, H. L. Paulson, & C. Klein (Eds.), Handbook of clinical neurology (Vol. 148, pp. 633-652). Elsevier.
Bolam, J. P., & Pissadaki, E. K. (2012). Living on the edge with too many mouths to feed: Why dopamine neurons die. Movement Disorders, 27(12), 1478-1483. https://doi.org/10.1002/mds.25135
Bradke, F., Fawcett, J. W., & Spira, M. E. (2012). Assembly of a new growth cone after axotomy: The precursor to axon regeneration. Nature Reviews. Neuroscience, 13(3), 183-193.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22334213
Brady, S. T., & Morfini, G. A. (2017). Regulation of motor proteins, axonal transport deficits and adult-onset neurodegenerative diseases. Neurobiology of Disease, 105, 273-282.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28411118
Brandner, S. (2014). Toxic neuropathies. In J. Vallat (Ed.), Peripheral nerve disorders: Pathology and genetics (pp. 238-245). Chichester: Wiley Blackwell.
Bridge, K. E., Berg, N., Adalbert, R., Babetto, E., Dias, T., Spillantini, M. G., … Coleman, M. P. (2009). Late onset distal axonal swelling in YFP-H transgenic mice. Neurobiology of Aging, 30(2), 309-321.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/17658198
Burgess, R. W., & Crish, S. D. (2018). Editorial: Axonopathy in neurodegenerative disease. Frontiers in Neuroscience, 12(769). 1-3. https://doi.org/10.3389/fnins.2018.00769
Burton, P. R., & Laveri, L. A. (1985). The distribution, relationships to other organelles, and calcium-sequestering ability of smooth endoplasmic reticulum in frog olfactory axons. The Journal of Neuroscience, 5(11), 3047-3060.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3877151
Calkins, D. J. (2013). Age-related changes in the visual pathways: Blame it on the AxonAge-related changes in the visual pathways. Investigative Ophthalmology & Visual Science, 54(14), 37-41. https://doi.org/10.1167/iovs.13-12784
Chung, T., Park, J. S., Kim, S., Montes, N., Walston, J., & Höke, A. (2017). Evidence for dying-back axonal degeneration in age-associated skeletal muscle decline. Muscle & Nerve, 55(6), 894-901.Retrieved from https://pubmed.ncbi.nlm.nih.gov/27464347
Chung, T., Prasad, K., & Lloyd, T. E. (2014). Peripheral neuropathy: Clinical and electrophysiological considerations. Neuroimaging Clinics of North America, 24(1), 49-65.Retrieved from https://pubmed.ncbi.nlm.nih.gov/24210312
Coleman, M. (2005). Axon degeneration mechanisms: Commonality amid diversity. Nature Reviews. Neuroscience, 6(11), 889-898. https://doi.org/10.1038/nrn1788
Coleman, M. P., & Höke, A. (2020). Programmed axon degeneration: From mouse to mechanism to medicine. Nature Reviews. Neuroscience, 21(4), 183-196. https://doi.org/10.1038/s41583-020-0269-3
Cosker, K. E., Fenstermacher, S. J., Pazyra-Murphy, M. F., Elliott, H. L., & Segal, R. A. (2016). The RNA-binding protein SFPQ orchestrates an RNA regulon to promote axon viability. Nature Neuroscience, 19(5), 690-696. https://doi.org/10.1038/nn.4280
Cotsapas, C., Mitrovic, M., & Hafler, D. (2018). Chapter 46-Multiple sclerosis, Handbook of clinical neurology (Vol. 148, pp. 723-730).
Crawford, L. K., & Caterina, M. J. (2019). Functional anatomy of the sensory nervous system: Updates from the neuroscience bench. Toxicologic Pathology, 48(1), 174-189. https://doi.org/10.1177/0192623319869011
Curcio, M., & Bradke, F. (2018). Axon regeneration in the central nervous system: Facing the challenges from the inside. Annual Review of Cell and Developmental Biology, 34, 495-521. https://doi.org/10.1146/annurev-cellbio-100617-062508
Czaniecki, C., Ryan, T., Stykel, M. G., Drolet, J., Heide, J., Hallam, R., … Ryan, S. D. (2019). Axonal pathology in hPSC-based models of Parkinson's disease results from loss of Nrf2 transcriptional activity at the Map1b gene locus. Proceedings of the National Academy of Sciences, 116(28), 14280-14289. https://doi.org/10.1073/pnas.1900576116
d'Ydewalle, C., Krishnan, J., Chiheb, D. M., Van Damme, P., Irobi, J., Kozikowski, A. P., … Van Den Bosch, L. (2011). HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-tooth disease. Nature Medicine, 17(8), 968-974. https://doi.org/10.1038/nm.2396
Dalmau, J. (1999). Carcinoma associated paraneoplastic peripheral neuropathy. Journal of Neurology, Neurosurgery, and Psychiatry, 67(1), 4-4. https://doi.org/10.1136/jnnp.67.1.4
Datar, A., Ameeramja, J., Bhat, A., Srivastava, R., Mishra, A., Bernal, R., … Pullarkat, P. A. (2019). The roles of microtubules and membrane tension in axonal beading, retraction, and atrophy. Biophysical Journal, 117(5), 880-891. https://doi.org/10.1016/j.bpj.2019.07.046
De Vos, K. J., Grierson, A. J., Ackerley, S., & Miller, C. C. (2008). Role of axonal transport in neurodegenerative diseases. Annual Review of Neuroscience, 31, 151-173.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/18558852
Dubey, S., Bhembre, N., Bodas, S., Veer, S., Ghose, A., Callan-Jones, A., & Pullarkat, P. (2020). The axonal Actin-spectrin lattice acts as a tension buffering shock absorber. eLife, 9, e51772. https://doi.org/10.7554/eLife.51772
DuBoff, B., Gotz, J., & Feany, M. B. (2012). Tau promotes neurodegeneration via DRP1 mislocalization in vivo. Neuron, 75(4), 618-632.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22920254
Dumont, E., P, L., Do, C., & Hess, H. (2015). Molecular wear of microtubules propelled by surface-adhered kinesins. Nature Nanotechnology, 10(2), 166-169. https://doi.org/10.1038/nnano.2014.334
Dutta, R., & Trapp, B. D. (2011). Mechanisms of neuronal dysfunction and degeneration in multiple sclerosis. Progress in Neurobiology, 93(1), 1-12.Retrieved from https://pubmed.ncbi.nlm.nih.gov/20946934
Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., & Elpeleg, O. (2012). Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Annals of Neurology, 71(4), 569-572.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22522446
Fassier, C., Tarrade, A., Peris, L., Courageot, S., Mailly, P., Dalard, C., … Melki, J. (2013). Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice. Disease Models & Mechanisms, 6(1), 72-83. https://doi.org/10.1242/dmm.008946
Fiala, J. C., Feinberg, M., Peters, A., & Barbas, H. (2007). Mitochondrial degeneration in dystrophic neurites of senile plaques may lead to extracellular deposition of fine filaments. Brain Structure & Function, 212(2), 195-207. https://doi.org/10.1007/s00429-007-0153-1
Fransen, M., Lismont, C., & Walton, P. (2017). The peroxisome-mitochondria connection: How and why? International Journal of Molecular Sciences, 18(6), E1126. https://doi.org/10.3390/ijms18061126
Fridman, V., & Murphy, S. M. (2014). The spectrum of axonopathies: From CMT2 to HSP. Neurology, 83(7), 580-581.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/25008393
Fu, M., Mu, S., Wen, C., Jiang, S., Li, L., Meng, Y., & Peng, H. (2018). Whole-exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion. Molecular Medicine Reports, 18(2), 2027-2032.Retrieved from https://pubmed.ncbi.nlm.nih.gov/29956774
Fukuda, Y., Li, Y., & Segal, R. A. (2017). A mechanistic understanding of axon degeneration in chemotherapy-induced peripheral neuropathy. Frontiers in Neuroscience, 11(481). 65-76. https://doi.org/10.3389/fnins.2017.00481
Fukuda, Y., Pazyra-Murphy, M. F., Silagi, E. S., Tasdemir-Yilmaz, O. E., Li, Y., Rose, L., … Segal, R. A. (2020). Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival. The Journal of Cell Biology, 220(1), e202005051. https://doi.org/10.1083/jcb.202005051
Fulga, T. A., Elson-Schwab, I., Khurana, V., Steinhilb, M. L., Spires, T. L., Hyman, B. T., & Feany, M. B. (2007). Abnormal bundling and accumulation of F-actin mediates tau-induced neuronal degeneration in vivo. Nature Cell Biology, 9(2), 139-148. https://doi.org/10.1038/ncb1528
Gardiner, N. J. (2011). Integrins and the extracellular matrix: Key mediators of development and regeneration of the sensory nervous system. Developmental Neurobiology, 71(11), 1054-1072. https://doi.org/10.1002/dneu.20950
Garg, N., Park, S. B., Vucic, S., Yiannikas, C., Spies, J., Howells, J., … Kiernan, M. C. (2017). Differentiating lower motor neuron syndromes. Journal of Neurology, Neurosurgery, and Psychiatry, 88(6), 474-483.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28003344
Gentile, F., Scarlino, S., Falzone, Y. M., Lunetta, C., Tremolizzo, L., Quattrini, A., & Riva, N. (2019). The peripheral nervous system in amyotrophic lateral sclerosis: Opportunities for translational research. Frontiers in Neuroscience, 13, 601. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/31293369
Goldblum, R. R., McClellan, M., Hou, C., Thompson, B. R., White, K., Vang, H. X., … Gardner, M. K. (2020). Oxidative stress pathogenically remodels the cardiac myocyte cytoskeleton via structural alterations to the microtubule lattice. bioRxiv, 2020.2006.2030.174532. https://doi.org/10.1101/2020.06.30.174532
Gonzalez, C., & Couve, A. (2014). The axonal endoplasmic reticulum and protein trafficking: Cellular bootlegging south of the soma. Seminars in Cell & Developmental Biology, 27, 23-31.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/24361785
Gu, C. (2021). Rapid and reversible development of axonal varicosities: A new form of neural plasticity. Frontiers in Molecular Neuroscience, 14(1), 1-13. https://doi.org/10.3389/fnmol.2021.610857
Guo, W., Stoklund Dittlau, K., & Van Den Bosch, L. (2020). Axonal transport defects and neurodegeneration: Molecular mechanisms and therapeutic implications. Seminars in Cell Developmental Biology, 99, 133-150. https://doi.org/10.1016/j.semcdb.2019.07.010
Hahn, I., Voelzmann, A., Liew, Y.-T., Costa-Gomes, B., & Prokop, A. (2019). The model of local axon homeostasis-Explaining the role and regulation of microtubule bundles in axon maintenance and pathology. Neural Development, 14, 11. https://doi.org/10.1186/s13064-13019-10134-13060
Hahn, I., Voelzmann, A., Parkin, J., Fuelle, J. B., Slater, P. G., Lowery, L. A., … Prokop, A. (2020). Tau, XMAP215/Msps and Eb1 jointly regulate microtubule polymerisation and bundle formation in axons. bioRxiv, 2020.2008.2019.257808. https://doi.org/10.1101/2020.08.19.257808
Hatch, R. J., Wei, Y., Xia, D., & Gotz, J. (2017). Hyperphosphorylated tau causes reduced hippocampal CA1 excitability by relocating the axon initial segment. Acta Neuropathologica, 133(5), 717-730.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28091722
Havlicek, S., Kohl, Z., Mishra, H. K., Prots, I., Eberhardt, E., Denguir, N., … Winner, B. (2014). Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. Human Molecular Genetics, 23(10), 2527-2541.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/24381312
Hedera, P. (2018). Hereditary spastic paraplegia overview. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa & A. Amemiya (Eds.), GeneReviews® [Internet] (p. , NMB1509). Seattle: Seattle (WA) University of Washington.
Hoxha, E., Balbo, I., Miniaci, M. C., & Tempia, F. (2018). Purkinje cell signaling deficits in animal models of ataxia. Frontiers in Synaptic Neuroscience, 10(6). https://doi.org/10.3389/fnsyn.2018.00006
Iqbal, K., Liu, F., Gong, C. X., Alonso Adel, C., & Grundke-Iqbal, I. (2009). Mechanisms of tau-induced neurodegeneration. Acta Neuropathologica, 118(1), 53-69. https://doi.org/10.1007/s00401-009-0486-3
Jang, D. H., & Hoffman, R. S. (2011). Heavy metal chelation in neurotoxic exposures. Neurologic Clinics, 29(3), 607-622. https://doi.org/10.1016/j.ncl.2011.05.002
Jellinger, K., & Jirasek, A. (1971). Neuroaxonal dystrophy in man: Character and natural history. Acta Neuropathology, 5, Suppl 5:3-16.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/5562691
Jessell, T. M. (2000). Neuronal specification in the spinal cord: Inductive signals and transcriptional codes. Nature Reviews. Genetics, 1(1), 20-29. https://doi.org/10.1038/35049541
Juster-Switlyk, K., & Smith, A. G. (2016). Updates in diabetic peripheral neuropathy. F1000Research, 5, F1000 Faculty Rev-1738. Retrieved from https://pubmed.ncbi.nlm.nih.gov/27158461
Katona, I., & Weis, J. (2018). Chapter 31-Diseases of the peripheral nerves. In G. G. Kovacs & I. Alafuzoff (Eds.), Handbook of clinical neurology (Vol. 145, pp. 453-474). Amsterdam: Elsevier.
Katz, M., Davis, M., Garton, F. C., Henderson, R., Bharti, V., Wray, N., & McCombe, P. (2020). Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series. Journal of Neurological Sciences, 413, 116809. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/32334137
Kim, G., Gautier, O., Tassoni-Tsuchida, E., Ma, X. R., & Gitler, A. D. (2020). ALS genetics: Gains, losses, and implications for future therapies. Neuron, 108(5), 822-842. https://doi.org/10.1016/j.neuron.2020.08.022
Klein, C. (2005). Movement disorders: Classifications. Journal of Inherited Metabolic Disease, 28(3), 425-439. https://www.ncbi.nlm.nih.gov/pubmed/15868475
Kohlschütter, A. (2009). Ataxia due to vitamin E deficiency. In F. Lang (Ed.), Encyclopedia Molec Mech disease (pp. 165-166). Berlin, Heidelberg: Springer Berlin Heidelberg.
Kong, L., Valdivia, D. O., Simon, C. M., Hassinan, C. W., Delestrée, N., Ramos, D. M., … Sumner, C. J. (2021). Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science Translational Medicine, 13(578), eabb6871. https://doi.org/10.1126/scitranslmed.abb6871
Kruer, M. C., Jepperson, T., Dutta, S., Steiner, R. D., Cottenie, E., Sanford, L., … Houlden, H. (2013). Mutations in gamma adducin are associated with inherited cerebral palsy. Annals of Neurology, 74(6), 805-814. https://doi.org/10.1002/ana.23971
Kuhlenbäumer, G., Timmerman, V., & Bomont, P. (2014). Giant axonal neuropathy. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa & A. Amemiya (Eds.), GeneReviews® [Internet] (p. NMB1136). Seattle: Seattle (WA) University of Washington.
Lam, A. T., VanDelinder, V., Kabir, A. M. R., Hess, H., Bachand, G. D., & Kakugo, A. (2016). Cytoskeletal motor-driven active self-assembly in in vitro systems. Soft Matter, 12(4), 988-997. https://doi.org/10.1039/C5SM02042E
Lampert, P. W. (1967). A comparative electron microscopic study of reactive, degenerating, regenerating, and dystrophic axons. Journal of Neuropathology Experimental Neurology, 26(3), 345-368. https://doi.org/10.1097/00005072-196707000-00001
Liu, X., Duan, X., Zhang, Y., Sun, A., & Fan, D. (2020). Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European Journal of Neurology, 27(7), 1319-1326.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/32298515
Llobet Rosell, A., & Neukomm, L. J. (2019). Axon death signalling in Wallerian degeneration among species and in disease. Open Biology, 9(8), 190118. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/31455157
Lynch-Godrei, A., & Kothary, R. (2020). HSAN-VI. A Spectrum Disorder Based on Dystonin Isoform Expression, 6(1), e389. https://doi.org/10.1212/nxg.0000000000000389
Ma, M. T., Chen, D. H., Raskind, W. H., & Bird, T. D. (2020). Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants. Neuromuscular Disorders, 30(7), 572-575.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/32600828
Maday, S., Twelvetrees, A. E., Moughamian, A. J., & Holzbaur, E. L. F. (2014). Axonal transport: Cargo-specific mechanisms of motility and regulation. Neuron, 84(2), 292-309. https://doi.org/10.1016/j.neuron.2014.10.019
Malacrida, A., Meregalli, C., Rodriguez-Menendez, V., & Nicolini, G. (2019). Chemotherapy-induced peripheral neuropathy and changes in cytoskeleton. International Journal of Molecular Sciences, 20(9), 2287. Retrieved from https://www.mdpi.com/1422-0067/20/9/2287
Marner, L., Nyengaard, J. R., Tang, Y., & Pakkenberg, B. (2003). Marked loss of myelinated nerve fibers in the human brain with age. The Journal of Comparative Neurology, 462(2), 144-152.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12794739
Mattedi, F., & Vagnoni, A. (2019). Temporal control of axonal transport: The extreme case of organismal ageing. Frontiers in Cellular Neuroscience, 13, 393. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/31555095
McKinnon, S. J., Schlamp, C. L., & Nickells, R. W. (2009). Mouse models of retinal ganglion cell death and glaucoma. Experimental Eye Research, 88(4), 816-824.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/19105954
Medana, I. M., & Esiri, M. M. (2003). Axonal damage: A key predictor of outcome in human CNS diseases. Brain, 126(Pt 3), 515-530.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12566274
Millecamps, S., & Julien, J. P. (2013). Axonal transport deficits and neurodegenerative diseases. Nature Reviews. Neuroscience, 14(3), 161-176.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/23361386
Minagar, A. (Ed.). (2010). Neurology and Systemic Disease (Vol. 28). https://doi.org/10.1016/S0733-8619(09)00098-X
Morris, M., Maeda, S., Vossel, K., & Mucke, L. (2011). The many faces of tau. Neuron, 70(3), 410-426. https://doi.org/10.1016/j.neuron.2011.04.009
Myers, K. A., Tint, I., Nadar, C. V., He, Y., Black, M. M., & Baas, P. W. (2006). Antagonistic forces generated by cytoplasmic dynein and myosin-II during growth cone turning and axonal retraction. Traffic, 7(10), 1333-1351. https://doi.org/10.1111/j.1600-0854.2006.00476.x
Nikić, I., Merkler, D., Sorbara, C., Brinkoetter, M., Kreutzfeldt, M., Bareyre, F. M., … Kerschensteiner, M. (2011). A reversible form of axon damage in experimental autoimmune encephalomyelitis and multiple sclerosis. Nature Medicine, 17(4), 495-499. https://doi.org/10.1038/nm.2324
Noble, W., Hanger, D. P., Miller, C. C., & Lovestone, S. (2013). The importance of tau phosphorylation for neurodegenerative diseases. Frontiers in Neurology, 4, 83. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/23847585
Nogueira-Rodrigues, J., Brites, P., & Sousa, M. M. (2016). Axonal pathology in Krabbe's disease: The cytoskeleton as an emerging therapeutic target. Journal of Neuroscience Research, 94(11), 1037-1041.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/27638589
Pascual-Ahuir, A., Manzanares-Estreder, S., & Proft, M. (2017). Pro- and antioxidant functions of the peroxisome-mitochondria connection and its impact on aging and disease. Oxidative Medicine and Cellular Longevity, 2017, 9860841. https://doi.org/10.1155/2017/9860841
Pisciotta, C., & Shy, M. E. (2018). Chapter 42-Neuropathy. In D. H. Geschwind, H. L. Paulson, & C. Klein (Eds.), Handbook of clinical neurology (Vol. 148, pp. 653-665). Elsevier.
Prior, R., Van Helleputte, L., Benoy, V., & Van Den Bosch, L. (2017). Defective axonal transport: A common pathological mechanism in inherited and acquired peripheral neuropathies. Neurobiological Diseases, 105, 300-320.doi: https://doi.org/10.1016/j.nbd.2017.02.009
Prior, T., Leach, M., & Finanger, E. (2019). Spinal muscular atrophy. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa & A. Amemiya (Eds.), GeneReviews® [Internet] (p. NMB1352). Seattle: Seattle (WA) University of Washington.
Probst, A., Gotz, J., Wiederhold, K. H., Tolnay, M., Mistl, C., Jaton, A. L., … Goedert, M. (2000). Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein. Acta Neuropathologica, 99(5), 469-481.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10805089
Prokop, A. (2020). Cytoskeletal organization of axons in vertebrates and invertebrates. The Journal of Cell Biology, 219(7), e201912081. https://doi.org/10.1083/jcb.201912081
Qu, Y., Hahn, I., Lees, M., Parkin, J., Voelzmann, A., Dorey, K., … Prokop, A. (2019). Efa6 protects axons and regulates their growth and branching by inhibiting microtubule polymerisation at the cortex. eLife, 8, e50319. https://doi.org/10.7554/eLife.50319
Qu, Y., Hahn, I., Webb, S. E. D., Pearce, S. P., & Prokop, A. (2017). Periodic actin structures in neuronal axons are required to maintain microtubules. Molecular Biology of the Cell, 28(2), 296-308. https://doi.org/10.1091/mbc.e16-10-0727
Rafiq, N. M., Lyons, L. L., Gowrishankar, S., De Camilli, P., & Ferguson, S. M. (2020). JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton. bioRxiv, 2020.2006.2024.169219. https://doi.org/10.1101/2020.06.24.169219
Raymond, G., Moser, A., & Fatemi, A. (2018). X-linked adrenoleukodystrophy. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa & A. Amemiya (Eds.), GeneReviews® [Internet] (p. NMB1315). Seattle: Seattle (WA) University of Washington.
Salvadores, N., Sanhueza, M., Manque, P., & Court, F. A. (2017). Axonal degeneration during aging and its functional role in neurodegenerative disorders. Frontiers in Neuroscience, 11(451), 30-50. https://doi.org/10.3389/fnins.2017.00451
Satake, T., Yamashita, K., Hayashi, K., Miyatake, S., Tamura-Nakano, M., Doi, H., … Suzuki, A. (2017). MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment. EMBO Journal, 36(9), 1227-1242. https://doi.org/10.15252/embj.201695630
Scarlino, S., Domi, T., Pozzi, L., Romano, A., Pipitone, G. B., Falzone, Y. M., … Quattrini, A. (2020). Burden of rare variants in ALS and axonal hereditary neuropathy genes influence survival in ALS: Insights from a next generation sequencing study of an Italian ALS cohort. International Journal of Molecular Sciences, 21(9). Retrieved from 3346. https://www.ncbi.nlm.nih.gov/pubmed/32397312
Seitelberger, F. (1971). Neuropathological conditions related to neuroaxonal dystrophy. Acta Neuropathology, 5, Suppl 5:17-29.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/5562689
Siddique, N., & Siddique, T. (2019). Amyotrophic lateral sclerosis overview. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirzaa & A. Amemiya (Eds.), GeneReviews® [Internet] (p. NMB1450). Seattle: Seattle (WA) University of Washington.
Sleigh, J. N., Rossor, A. M., Fellows, A. D., Tosolini, A. P., & Schiavo, G. (2019). Axonal transport and neurological disease. Nature Reviews. Neurology, 15(12), 691-703. https://doi.org/10.1038/s41582-019-0257-2
Smith, D. H. (2009). Stretch growth of integrated axon tracts: Extremes and exploitations. Progress in Neurobiology, 89(3), 231-239. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19664679
Spaulding, E. L., & Burgess, R. W. (2017). Accumulating evidence for axonal translation in neuronal homeostasis. Frontiers in Neuroscience, 11(312), 138-144. https://doi.org/10.3389/fnins.2017.00312
Spencer, P. S., & Schaumburg, H. H. (1977a). Ultrastructural studies of the dying-back process. III. The evolution of experimental peripheral giant axonal degeneration. Journal of Neuropathology and Experimental Neurology, 36(2), 276-299.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/190357
Spencer, P. S., & Schaumburg, H. H. (1977b). Ultrastructural studies of the dying-back process. IV. Differential vulnerability of PNS and CNS fibers in experimental central-peripheral distal axonopathies. Journal of Neuropathology and Experimental Neurology, 36(2), 300-320.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/190358
Stassart, R. M., Möbius, W., Nave, K.-A., & Edgar, J. M. (2018). The axon-myelin unit in development and degenerative disease. Frontiers in Neuroscience, 12(467), 8-29. https://doi.org/10.3389/fnins.2018.00467
Tanner, K. D., Levine, J. D., & Topp, K. S. (1998). Microtubule disorientation and axonal swelling in unmyelinated sensory axons during vincristine-induced painful neuropathy in rat. Journal of Comparative Neurology, 395(4), 481-492. https://doi.org/10.1002/(SICI)1096-9861(19980615)395:4<481::AID-CNE5>3.0.CO;2-Y
Tarrade, A., Fassier, C., Courageot, S., Charvin, D., Vitte, J., Peris, L., … Melki, J. (2006). A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Human Molecular Genetics, 15(24), 3544-3558.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/17101632
Tian, W. T., Liu, L. H., Zhou, H. Y., Zhang, C., Zhan, F. X., Zhu, Z. Y., … Cao, L. (2020). New phenotype of DCTN1-related spectrum: Early-onset dHMN plus congenital foot deformity. Annals of Clinical Translational Neurology, 7(2), 200-209.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/32023010
Triclin, S., Inoue, D., Gaillard, J., Htet, Z. M., DeSantis, M. E., Portran, D., … Théry, M. (2021). Self-repair protects microtubules from destruction by molecular motors. Nature Materials. https://doi.org/10.1038/s41563-020-00905-0
Vallat, J. M., Goizet, C., Tazir, M., Couratier, P., Magy, L., & Mathis, S. (2016). Classifications of neurogenetic diseases: An increasingly complex problem. Revue Neurologique (Paris), 172(6-7), 339-349.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/27240993
van den Berg, R., Hoogenraad, C. C., & Hintzen, R. Q. (2017). Axonal transport deficits in multiple sclerosis: Spiraling into the abyss. Acta Neuropathologica, 134(1), 1-14.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28315956
van der Vaart, B., van Riel, W. E., Doodhi, H., Kevenaar, J. T., Katrukha, E. A., Gumy, L., … Akhmanova, A. (2013). CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor. Developmental Cell, 27(2), 145-160. https://doi.org/10.1016/j.devcel.2013.09.010
VanDelinder, V., Adams, P. G., & Bachand, G. D. (2016). Mechanical splitting of microtubules into protofilament bundles by surface-bound kinesin-1. Scientific Reports, 6, 39408. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/28000714
Verschueren, A. (2017). Motor neuropathies and lower motor neuron syndromes. Revue Neurologique (Paris), 173(5), 320-325.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/28434507
Voelzmann, A., Liew, Y.-T., Qu, Y., Hahn, I., Melero, C., Sánchez-Soriano, N., & Prokop, A. (2017). Drosophila short stop as a paradigm for the role and regulation of spectraplakins. Seminars in Cell & Developmental Biology, 69, 40-57. https://doi.org/10.1016/j.semcdb.2017.05.019
Voelzmann, A., Okenve-Ramos, P., Qu, Y., Chojnowska-Monga, M., del Caño-Espinel, M., Prokop, A., & Sánchez-Soriano, N. (2016). Tau and spectraplakins promote synapse formation and maintenance through Jun kinase and neuronal trafficking. eLife, 5, e14694. https://doi.org/10.7554/eLife.14694
Wang, T., Li, W., Martin, S., Papadopulos, A., Joensuu, M., Liu, C., … Meunier, F. A. (2020). Radial contractility of actomyosin rings facilitates axonal trafficking and structural stability. The Journal of Cell Biology, 219(5). Retrieved from e201902001. https://www.ncbi.nlm.nih.gov/pubmed/32182623
Wedel, M. J. (2012). A monument of inefficiency: The presumed course of the recurrent laryngeal nerve in sauropod dinosaurs. Acta Palaeontologica Polonica, 57(2), 251-256. https://doi.org/10.4202/app.2011.0019
Wenger, D. A., Rafi, M. A., Luzi, P., Datto, J., & Costantino-Ceccarini, E. (2000). Krabbe disease: Genetic aspects and progress toward therapy. Molecular Genetics and Metabolism, 70(1), 1-9. https://doi.org/10.1006/mgme.2000.2990
Wilson, C., Terman, J. R., Gonzalez-Billault, C., & Ahmed, G. (2016). Actin filaments-A target for redox regulation. Cytoskeleton (Hoboken), 73(10), 577-595.Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/27309342
Wilson, G. N., Smith, M. A., Inman, D. M., Dengler-Crish, C. M., & Crish, S. D. (2016). Early cytoskeletal protein modifications precede overt structural degeneration in the DBA/2J mouse model of glaucoma. Frontiers in Neuroscience, 10(494), 1-16. https://doi.org/10.3389/fnins.2016.00494
Wioland, H., Frémont, S., Guichard, B., Echard, A., Jégou, A., & Romet-Lemonne, G. (2021). Actin filament oxidation by MICAL1 suppresses protections from cofilin-induced disassembly. EMBO Reports, 22(2), e50965. https://doi.org/10.15252/embr.202050965
Yang, Y., Bauer, C., Strasser, G., Wollman, R., Julien, J. P., & Fuchs, E. (1999). Integrators of the cytoskeleton that stabilize microtubules. Cell, 98(2), 229-238. https://doi.org/10.1016/s0092-8674(00)81017-x
Zajączkowska, R., Kocot-Kępska, M., Leppert, W., Wrzosek, A., Mika, J., & Wordliczek, J. (2019). Mechanisms of chemotherapy-induced peripheral neuropathy. International Journal of Molecular Sciences, 20(6), 1451. Retrieved from https://pubmed.ncbi.nlm.nih.gov/30909387
Züchner, S., & Vance, J. M. (2005). Emerging pathways for hereditary axonopathies. Journal of Molecular Medicine (Berlin, Germany), 83(12), 935-943.Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/16133422