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The diverse molecular genetic mechanisms of CMT were discovered over the past three decades with the development of molecular biology and gene sequencing technologies. These methods have brought new options for CMT reclassification and led to an exciting era of treatment target discovery for this incurable disease. Currently, there are no approved disease management methods that can fully cure patients with CMT, and rehabilitation, orthotics, and surgery are the only available treatments to ameliorate symptoms. Considerable research attention has been given to disease-modifying therapies, including gene silencing, gene addition, and gene editing, but most treatments that reach clinical trials are drug treatments, while currently, only gene therapies for CMT2S have reached the clinical trial stage. In this review, we highlight the pathogenic mechanisms and therapeutic investigations of different subtypes of CMT, and promising therapeutic approaches are also discussed.<\/jats:p>","DOI":"10.3390\/biom14091138","type":"journal-article","created":{"date-parts":[[2024,9,9]],"date-time":"2024-09-09T04:15:01Z","timestamp":1725855301000},"page":"1138","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Current Treatment Methods for Charcot\u2013Marie\u2013Tooth Diseases"],"prefix":"10.3390","volume":"14","author":[{"given":"Hongxian","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery and Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boquan","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery and Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery and Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0125-0904","authenticated-orcid":false,"given":"Lei","family":"Lei","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shizhou","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery and Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1097\/WCO.0000000000000474","article-title":"New developments in Charcot-Marie-Tooth neuropathy and related diseases","volume":"30","author":"Pareyson","year":"2017","journal-title":"Curr. Opin. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1007\/s00415-014-7490-9","article-title":"Charcot Marie Tooth disease (CMT): Historical perspectives and evolution","volume":"262","author":"Kazamel","year":"2015","journal-title":"J. Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1007\/s13311-021-01145-z","article-title":"Mechanisms and Treatments in Demyelinating CMT","volume":"18","author":"Fridman","year":"2021","journal-title":"Neurotherapeutics"},{"key":"ref_4","first-page":"1224","article-title":"Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies","volume":"26","author":"Klein","year":"2020","journal-title":"Continuum"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1152\/physiolgenomics.00035.2017","article-title":"Germline genetic variants with implications for disease risk and therapeutic outcomes","volume":"49","author":"Pasternak","year":"2017","journal-title":"Physiol. Genom."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1146\/annurev-pathmechdis-012418-012751","article-title":"Clinical Metagenomic Next-Generation Sequencing for Pathogen Detection","volume":"14","author":"Gu","year":"2019","journal-title":"Annu. Rev. Pathol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Morena, J., Gupta, A., and Hoyle, J.C. (2019). Charcot-Marie-Tooth: From Molecules to Therapy. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20143419"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/brain\/103.2.259","article-title":"The clinical features of hereditary motor and sensory neuropathy types I and II","volume":"103","author":"Harding","year":"1980","journal-title":"Brain"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot\u2013Marie\u2013Tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/0022-510X(77)90042-9","article-title":"The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies","volume":"32","author":"Madrid","year":"1977","journal-title":"J. Neurol. Sci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1007\/s00415-017-8474-3","article-title":"Intermediate Charcot-Marie-Tooth disease: An electrophysiological reappraisal and systematic review","volume":"264","author":"Berciano","year":"2017","journal-title":"J. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1212\/01.wnl.0000171345.62270.29","article-title":"Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations","volume":"65","author":"Zhu","year":"2005","journal-title":"Neurology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1002\/mus.23775","article-title":"Inherited neuropathies: Clinical overview and update","volume":"48","author":"Klein","year":"2013","journal-title":"Muscle Nerve"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1001\/archneur.60.8.1045","article-title":"The hereditary spastic paraplegias: Nine genes and counting","volume":"60","author":"Fink","year":"2003","journal-title":"Arch. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1080\/14737175.2021.1935242","article-title":"Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies","volume":"21","author":"Pisciotta","year":"2021","journal-title":"Expert. Rev. Neurother."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/S0960-8966(98)00044-3","article-title":"Charcot-Marie-Tooth disease: An intermediate form","volume":"8","author":"Villanova","year":"1998","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1042\/BST0350870","article-title":"Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH)","volume":"35","author":"Schofield","year":"2007","journal-title":"Biochem. Soc. Trans."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1177\/0883073812474343","article-title":"The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: A transient disorder of children and young adults","volume":"29","author":"Craig","year":"2014","journal-title":"J. Child Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1126\/science.8266101","article-title":"Connexin mutations in X-linked Charcot-Marie-Tooth disease","volume":"262","author":"Bergoffen","year":"1993","journal-title":"Science"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1177\/0883073815604227","article-title":"A Review of X-linked Charcot-Marie-Tooth Disease","volume":"31","author":"Wang","year":"2016","journal-title":"J. Child Neurol."},{"key":"ref_21","unstructured":"Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (1993). GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. GeneReviews(\u00ae), University of Washington."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.4103\/1673-5374.361538","article-title":"CMT1A current gene therapy approaches and promising biomarkers","volume":"18","author":"Stavrou","year":"2023","journal-title":"Neural Regen. Res."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Stavrou, M., Sargiannidou, I., Georgiou, E., Kagiava, A., and Kleopa, K.A. (2021). Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22116048"},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Alberti, C., Rizzo, F., Anastasia, A., Comi, G., Corti, S., and Abati, E. (2024). Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives. Neurobiol. Dis., 193.","DOI":"10.1016\/j.nbd.2024.106467"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.trsl.2020.07.006","article-title":"Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: The past, the present and the future","volume":"227","author":"Boutary","year":"2021","journal-title":"Transl. Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/brain\/awh048","article-title":"Phenotypic clustering in MPZ mutations","volume":"127","author":"Shy","year":"2004","journal-title":"Brain"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s13258-022-01253-w","article-title":"Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation","volume":"44","author":"Park","year":"2022","journal-title":"Genes Genom."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e24592","DOI":"10.1002\/jcla.24592","article-title":"The etiological roles of miRNAs, lncRNAs, and circRNAs in neuropathic pain: A narrative review","volume":"36","author":"Jiang","year":"2022","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.nbd.2005.10.010","article-title":"Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression","volume":"22","author":"Fortun","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/jns.12452","article-title":"Loss of function MPZ mutation causes milder CMT1B neuropathy","volume":"26","author":"Howard","year":"2021","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Defilippi, V., Petereit, J., Handlos, V.J.L., and Notterpek, L. (2024). Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves. J. Neurochem., online ahead of print.","DOI":"10.1111\/jnc.16189"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng1341","article-title":"Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A","volume":"36","author":"Mersiyanova","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/s41419-017-0023-6","article-title":"Mitofusin 2: From functions to disease","volume":"9","author":"Filadi","year":"2018","journal-title":"Cell Death Dis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.cell.2007.06.026","article-title":"Mitochondrial fusion protects against neurodegeneration in the cerebellum","volume":"130","author":"Chen","year":"2007","journal-title":"Cell"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1038\/nature15510","article-title":"CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase","volume":"526","author":"He","year":"2015","journal-title":"Nature"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1093\/hmg\/ddh236","article-title":"Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models","volume":"13","author":"Jones","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1212\/WNL.0000000000001773","article-title":"Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E","volume":"85","author":"Pisciotta","year":"2015","journal-title":"Neurology"},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Schwartz, N.U. (2019). Charcot-Marie-Tooth 2F (Hsp27 mutations): A review. Neurobiol. Dis., 130.","DOI":"10.1016\/j.nbd.2019.104505"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1096\/fj.201701067R","article-title":"Decreased ceramide underlies mitochondrial dysfunction in Charcot-Marie-Tooth 2F","volume":"32","author":"Schwartz","year":"2018","journal-title":"FASEB J."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"e202302554","DOI":"10.26508\/lsa.202302554","article-title":"IGHMBP2 deletion suppresses translation and activates the integrated stress response","volume":"7","author":"Park","year":"2024","journal-title":"Life Sci. Alliance"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1093\/hmg\/ddp565","article-title":"Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C","volume":"19","author":"Roberts","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.parkreldis.2020.03.021","article-title":"FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Var\u00f3n syndrome","volume":"74","author":"Zimmermann","year":"2020","journal-title":"Park. Relat. Disord."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1385\/NMM:8:1-2:123","article-title":"Intermediate forms of Charcot-Marie-Tooth neuropathy: A review","volume":"8","author":"Nicholson","year":"2006","journal-title":"Neuromolecular Med."},{"key":"ref_44","first-page":"31","article-title":"Rehabilitation issues in Charcot-Marie-Tooth disease","volume":"9","author":"Matthews","year":"2016","journal-title":"J. Pediatr. Rehabil. Med."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e3278","DOI":"10.1097\/MD.0000000000003278","article-title":"Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature","volume":"95","author":"Corrado","year":"2016","journal-title":"Medicine"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1111\/ene.14074","article-title":"Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: Results of a multicenter, prospective, randomized, single-blind, controlled study","volume":"27","author":"Mori","year":"2020","journal-title":"Eur. J. Neurol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/mus.880060502","article-title":"Physical models of rehabilitation in neuromuscular disease","volume":"6","author":"Vignos","year":"1983","journal-title":"Muscle Nerve"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1016\/j.apmr.2020.06.010","article-title":"The Effect of Proprioceptive Exercises on Balance and Physical Function in Institutionalized Older Adults: A Randomized Controlled Trial","volume":"101","year":"2020","journal-title":"Arch. Phys. Med. Rehabil."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/PHM.0b013e31821f6e32","article-title":"Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: A pilot study","volume":"90","author":"Maggi","year":"2011","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1097\/PHM.0b013e31821f7172","article-title":"Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease","volume":"90","author":"Guillebastre","year":"2011","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1007\/s10072-021-05646-9","article-title":"Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT","volume":"43","author":"Prada","year":"2022","journal-title":"Neurol. Sci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1001\/jamaneurol.2017.5041","article-title":"Management of Gait Impairments in Chronic Unilateral Upper Motor Neuron Lesions: A Review","volume":"75","author":"Nonnekes","year":"2018","journal-title":"JAMA Neurol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/mus.27027","article-title":"Satisfaction with ankle foot orthoses in individuals with Charcot-Marie-Tooth disease","volume":"63","author":"Zuccarino","year":"2021","journal-title":"Muscle Nerve"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1007\/s11940-011-0115-z","article-title":"Inherited neuropathies","volume":"13","author":"Schenone","year":"2011","journal-title":"Curr. Treat. Options Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1177\/1071100720922220","article-title":"A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease","volume":"41","author":"Pfeffer","year":"2020","journal-title":"Foot Ankle Int."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1016\/j.nmd.2014.06.433","article-title":"Quality-of-life in Charcot-Marie-Tooth disease: The patient\u2019s perspective","volume":"24","author":"Johnson","year":"2014","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1177\/1071100718798817","article-title":"Operative Treatment of the Cavovarus Foot","volume":"39","author":"Kaplan","year":"2018","journal-title":"Foot Ankle Int."},{"key":"ref_58","first-page":"350","article-title":"Charcot-Marie-tooth disease","volume":"1","author":"Casasnovas","year":"2008","journal-title":"Foot Ankle Spec."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/S1083-7515(24)00138-4","article-title":"Treatment of the cavus foot. Deformity in the pediatric patient with Charcot-Marie-Tooth","volume":"5","author":"Olney","year":"2000","journal-title":"Foot Ankle Clin."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Pisciotta, C., Saveri, P., and Pareyson, D. (2021). Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives. Brain Sci., 11.","DOI":"10.3390\/brainsci11111447"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.neurol.2022.11.006","article-title":"Treatment of Charcot-Marie-Tooth neuropathies","volume":"179","author":"Attarian","year":"2023","journal-title":"Rev. Neurol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"17002","DOI":"10.1038\/nrdp.2017.2","article-title":"Neuropathic pain","volume":"3","author":"Colloca","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/S1474-4422(10)70143-5","article-title":"Neuropathic pain: Diagnosis, pathophysiological mechanisms, and treatment","volume":"9","author":"Baron","year":"2010","journal-title":"Lancet Neurol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"e153558","DOI":"10.1172\/JCI153558","article-title":"Nociception and pain in humans lacking a functional TRPV1 channel","volume":"133","author":"Katz","year":"2023","journal-title":"J. Clin. Investig."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1007\/s00415-009-5390-1","article-title":"Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: A web-based survey","volume":"257","author":"Boentert","year":"2010","journal-title":"J. Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s12955-018-0862-6","article-title":"Fatigue in chronically critically ill patients following intensive care\u2014Reliability and validity of the multidimensional fatigue inventory (MFI-20)","volume":"16","author":"Wintermann","year":"2018","journal-title":"Health Qual. Life Outcomes"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1002\/mus.20959","article-title":"Benefits of interval-training on fatigue and functional capacities in Charcot-Marie-Tooth disease","volume":"37","author":"Millet","year":"2008","journal-title":"Muscle Nerve"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1002\/mus.20621","article-title":"Effects of exercise and creatine on myosin heavy chain isoform composition in patients with Charcot-Marie-Tooth disease","volume":"34","author":"Smith","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Plotkin, D.L., Roberts, M.D., Haun, C.T., and Schoenfeld, B.J. (2021). Muscle Fiber Type Transitions with Exercise Training: Shifting Perspectives. Sports, 9.","DOI":"10.3390\/sports9090127"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/S1474-4422(09)70110-3","article-title":"Diagnosis, natural history, and management of Charcot-Marie-Tooth disease","volume":"8","author":"Pareyson","year":"2009","journal-title":"Lancet Neurol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1177\/1049909106292169","article-title":"Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: A case series","volume":"23","author":"Carter","year":"2006","journal-title":"Am. J. Hosp. Palliat. Care"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.nmd.2006.12.008","article-title":"Ascorbic acid inhibits PMP22 expression by reducing cAMP levels","volume":"17","author":"Kaya","year":"2007","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1038\/nm1023","article-title":"Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease","volume":"10","author":"Passage","year":"2004","journal-title":"Nat. Med."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/0091-3057(85)90408-3","article-title":"Effect of progesterone upon adenylate cyclase activity and cAMP levels on brain areas","volume":"23","author":"Collado","year":"1985","journal-title":"Pharmacol. Biochem. Behav."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1159\/000339822","article-title":"Membrane progesterone receptors: Evidence for neuroprotective, neurosteroid signaling and neuroendocrine functions in neuronal cells","volume":"96","author":"Thomas","year":"2012","journal-title":"Neuroendocrinology"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/ana.21026","article-title":"Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy","volume":"61","author":"Prukop","year":"2007","journal-title":"Ann. Neurol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"198","DOI":"10.21307\/ane-2018-018","article-title":"Charcot-Marie-Tooth type 1A drug therapies: Role of adenylyl cyclase activity and G-protein coupled receptors in disease pathomechanism","volume":"78","author":"Kiepura","year":"2018","journal-title":"Acta Neurobiol. Exp."},{"key":"ref_78","doi-asserted-by":"crossref","unstructured":"Prukop, T., Stenzel, J., Wernick, S., Kungl, T., Mroczek, M., Adam, J., Ewers, D., Nabirotchkin, S., Nave, K.A., and Hajj, R. (2019). Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0209752"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1038\/nm.3664","article-title":"Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A","volume":"20","author":"Fledrich","year":"2014","journal-title":"Nat. Med."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"809","DOI":"10.2217\/fnl.11.45","article-title":"The role of neuregulin-1 in the response to nerve injury","volume":"6","author":"Fricker","year":"2011","journal-title":"Future Neurol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1038\/s41467-019-09385-6","article-title":"NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies","volume":"10","author":"Fledrich","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1023\/B:NEUR.0000020614.83883.be","article-title":"Neuregulins and the neuromuscular system: 10 years of answers and questions","volume":"32","author":"Falls","year":"2003","journal-title":"J. Neurocytol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/nn.3281","article-title":"A role for Schwann cell-derived neuregulin-1 in remyelination","volume":"16","author":"Stassart","year":"2013","journal-title":"Nat. Neurosci."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.15252\/emmm.201606349","article-title":"Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination","volume":"8","author":"Bolino","year":"2016","journal-title":"EMBO Mol. Med."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1126\/science.1095862","article-title":"Axonal neuregulin-1 regulates myelin sheath thickness","volume":"304","author":"Michailov","year":"2004","journal-title":"Science"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.neuron.2005.08.017","article-title":"Neuregulin-1 type III determines the ensheathment fate of axons","volume":"47","author":"Taveggia","year":"2005","journal-title":"Neuron"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/nn.2849","article-title":"TACE (ADAM17) inhibits Schwann cell myelination","volume":"14","author":"Cerri","year":"2011","journal-title":"Nat. Neurosci."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1093\/hmg\/ddy411","article-title":"Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot-Marie-Tooth type 1B mouse model","volume":"28","author":"Scapin","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1242\/dev.072371","article-title":"Vimentin regulates peripheral nerve myelination","volume":"139","author":"Triolo","year":"2012","journal-title":"Development"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"34017","DOI":"10.1074\/jbc.M205120200","article-title":"Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus","volume":"277","author":"Wilson","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"23146","DOI":"10.1074\/jbc.M109.027128","article-title":"P2X7-mediated increased intracellular calcium causes functional derangement in Schwann cells from rats with CMT1A neuropathy","volume":"284","author":"Nobbio","year":"2009","journal-title":"J. Biol. Chem."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.nbd.2016.07.017","article-title":"Tolerability and efficacy study of P2X7 inhibition in experimental Charcot-Marie-Tooth type 1A (CMT1A) neuropathy","volume":"95","author":"Sociali","year":"2016","journal-title":"Neurobiol. Dis."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.cell.2013.12.016","article-title":"Microbiota-generated metabolites promote metabolic benefits via gut-brain neural circuits","volume":"156","author":"Goncalves","year":"2014","journal-title":"Cell"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2359","DOI":"10.1002\/jcp.25518","article-title":"Neurotransmitters: The Critical Modulators Regulating Gut-Brain Axis","volume":"232","author":"Mittal","year":"2017","journal-title":"J. Cell Physiol."},{"key":"ref_95","first-page":"100479","article-title":"Gut microbiota in muscular atrophy development, progression, and treatment: New therapeutic targets and opportunities","volume":"4","author":"Chen","year":"2023","journal-title":"Innovation"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1080\/19490976.2019.1638722","article-title":"Gut microbes and metabolites as modulators of blood-brain barrier integrity and brain health","volume":"11","author":"Parker","year":"2020","journal-title":"Gut Microbes"},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Boddy, S.L., Giovannelli, I., Sassani, M., Cooper-Knock, J., Snyder, M.P., Segal, E., Elinav, E., Barker, L.A., Shaw, P.J., and McDermott, C.J. (2021). The gut microbiome: A key player in the complexity of amyotrophic lateral sclerosis (ALS). BMC Med., 19.","DOI":"10.1186\/s12916-020-01885-3"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nri.2016.42","article-title":"Gut microbiota, metabolites and host immunity","volume":"16","author":"Rooks","year":"2016","journal-title":"Nat. Rev. Immunol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s11010-020-03834-3","article-title":"Gene therapy: A double-edged sword with great powers","volume":"474","author":"Tang","year":"2020","journal-title":"Mol. Cell Biochem."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1093\/hmg\/ddy056","article-title":"Intrathecal gene therapy in mouse models expressing CMT1X mutations","volume":"27","author":"Kagiava","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"3290","DOI":"10.1016\/j.ymthe.2023.08.020","article-title":"AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C","volume":"31","author":"Georgiou","year":"2023","journal-title":"Mol. Ther."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/s41573-019-0017-4","article-title":"The current state and future directions of RNAi-based therapeutics","volume":"18","author":"Setten","year":"2019","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1093\/eurheartj\/ehs084","article-title":"Antisense oligonucleotides for the treatment of dyslipidaemia","volume":"33","author":"Visser","year":"2012","journal-title":"Eur. Heart J."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1172\/JCI96499","article-title":"PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models","volume":"128","author":"Zhao","year":"2018","journal-title":"J. Clin. Investig."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/nar\/gkx1230","article-title":"Triplex-forming oligonucleotides: A third strand for DNA nanotechnology","volume":"46","author":"Chandrasekaran","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1089\/108729001317022232","article-title":"Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene","volume":"11","author":"Hai","year":"2001","journal-title":"Antisense Nucleic Acid Drug Dev."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"e159814","DOI":"10.1172\/JCI159814","article-title":"A translatable RNAi-driven gene therapy silences PMP22\/Pmp22 genes and improves neuropathy in CMT1A mice","volume":"132","author":"Stavrou","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/jnc.15249","article-title":"Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?","volume":"157","author":"Zhang","year":"2021","journal-title":"J. Neurochem."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"5568","DOI":"10.1172\/JCI130600","article-title":"Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models","volume":"129","author":"Morelli","year":"2019","journal-title":"J. Clin. Investig."},{"key":"ref_110","doi-asserted-by":"crossref","unstructured":"Boutary, S., Caillaud, M., El Madani, M., Vallat, J.M., Loisel-Duwattez, J., Rouyer, A., Richard, L., Gracia, C., Urbinati, G., and Desma\u00eble, D. (2021). Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A. Commun. Biol., 4.","DOI":"10.1038\/s42003-021-01839-2"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"4947","DOI":"10.3892\/mmr.2020.11579","article-title":"Short hairpin RNA treatment improves gait in a mouse model of Charcot-Marie-Tooth disease type 1A","volume":"22","author":"Doo","year":"2020","journal-title":"Mol. Med. Rep."},{"key":"ref_112","doi-asserted-by":"crossref","unstructured":"Mou, Y., Dein, J., Chen, Z., Jagdale, M., and Li, X.J. (2021). MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons. Front. Mol. Neurosci., 14.","DOI":"10.3389\/fnmol.2021.727552"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"2356","DOI":"10.1038\/s41467-021-22593-3","article-title":"AAV2\/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1\u2009A","volume":"12","author":"Gautier","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s12943-022-01518-8","article-title":"Current applications and future perspective of CRISPR\/Cas9 gene editing in cancer","volume":"21","author":"Wang","year":"2022","journal-title":"Mol. Cancer"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1161\/CIRCRESAHA.117.311080","article-title":"Induced Pluripotent Stem Cells 10 Years Later: For Cardiac Applications","volume":"120","author":"Yoshida","year":"2017","journal-title":"Circ. Res."},{"key":"ref_116","first-page":"130","article-title":"Targeted PMP22 TATA-box editing by CRISPR\/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice","volume":"48","author":"Lee","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/jns.12357","article-title":"Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCs","volume":"24","author":"Manganelli","year":"2019","journal-title":"J. Peripher. Nerv. Syst. JPNS"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1093\/brain\/awab226","article-title":"Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction","volume":"144","author":"Verstraelen","year":"2021","journal-title":"Brain"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1038\/s12276-024-01250-x","article-title":"Advances and challenges in modeling inherited peripheral neuropathies using iPSCs","volume":"56","author":"Prior","year":"2024","journal-title":"Exp. Mol. Med."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/s41398-021-01664-5","article-title":"The proteomic architecture of schizophrenia iPSC-derived cerebral organoids reveals alterations in GWAS and neuronal development factors","volume":"11","author":"Notaras","year":"2021","journal-title":"Transl. Psychiatry"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"2885","DOI":"10.1093\/brain\/awac475","article-title":"Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A","volume":"146","author":"Vendredy","year":"2023","journal-title":"Brain"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1096\/fj.13-243980","article-title":"Human dental pulp stem cells can differentiate into Schwann cells and promote and guide neurite outgrowth in an aligned tissue-engineered collagen construct in vitro","volume":"28","author":"Martens","year":"2014","journal-title":"FASEB J."},{"key":"ref_123","doi-asserted-by":"crossref","unstructured":"Libberecht, K., Dirkx, N., Vangansewinkel, T., Vandendries, W., Lambrichts, I., and Wolfs, E. (2024). The Influence of Lysosomal Stress on Dental Pulp Stem Cell-Derived Schwann Cells. Biomolecules, 14.","DOI":"10.3390\/biom14040405"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10897-005-9014-3","article-title":"A new definition of Genetic Counseling: National Society of Genetic Counselors\u2019 Task Force report","volume":"15","author":"Resta","year":"2006","journal-title":"J. Genet. Couns."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/s41573-019-0012-9","article-title":"Adeno-associated virus vector as a platform for gene therapy delivery","volume":"18","author":"Wang","year":"2019","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_126","doi-asserted-by":"crossref","unstructured":"Daci, R., and Flotte, T.R. (2024). Delivery of Adeno-Associated Virus Vectors to the Central Nervous System for Correction of Single Gene Disorders. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25021050"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.nmd.2023.07.001","article-title":"Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease","volume":"33","author":"Pisciotta","year":"2023","journal-title":"Neuromuscul. Disord."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1093\/ilar\/ilt035","article-title":"Progress and prospects for genetic modification of nonhuman primate models in biomedical research","volume":"54","author":"Chan","year":"2013","journal-title":"ILAR J."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.scib.2020.09.008","article-title":"Generation of nonhuman primate retinitis pigmentosa model by in situ knockout of RHO in rhesus macaque retina","volume":"66","author":"Li","year":"2021","journal-title":"Sci. Bull."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/s41573-023-00766-7","article-title":"AAV-based in vivo gene therapy for neurological disorders","volume":"22","author":"Ling","year":"2023","journal-title":"Nat. Rev. Drug Discov."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.jconrel.2016.09.011","article-title":"Gene therapy for the CNS using AAVs: The impact of systemic delivery by AAV9","volume":"241","author":"Saraiva","year":"2016","journal-title":"J. Control. Release"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/s41576-019-0205-4","article-title":"Engineering adeno-associated virus vectors for gene therapy","volume":"21","author":"Li","year":"2020","journal-title":"Nat. Rev. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/mt.2011.237","article-title":"Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector","volume":"20","author":"Bowles","year":"2012","journal-title":"Mol. Ther."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1186\/s13041-020-00679-1","article-title":"AAV9-Retro mediates efficient transduction with axon terminal absorption and blood-brain barrier transportation","volume":"13","author":"Lin","year":"2020","journal-title":"Mol. Brain"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1007\/s13311-021-01099-2","article-title":"Axonal Charcot-Marie-Tooth Disease: From Common Pathogenic Mechanisms to Emerging Treatment Opportunities","volume":"18","author":"McCray","year":"2021","journal-title":"Neurotherapeutics"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.omtm.2017.11.007","article-title":"Emerging Issues in AAV-Mediated In Vivo Gene Therapy","volume":"8","author":"Colella","year":"2018","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/aps.2015.8","article-title":"Efficacy-oriented compatibility for component-based Chinese medicine","volume":"36","author":"Zhang","year":"2015","journal-title":"Acta Pharmacol. Sin."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1016\/j.molmed.2013.07.009","article-title":"\u2018Pathway drug cocktail\u2019: Targeting Ras signaling based on structural pathways","volume":"19","author":"Nussinov","year":"2013","journal-title":"Trends Mol. Med."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"3372","DOI":"10.7150\/thno.69999","article-title":"Advanced nanocarrier- and microneedle-based transdermal drug delivery strategies for skin diseases treatment","volume":"12","author":"Qu","year":"2022","journal-title":"Theranostics"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"122570","DOI":"10.1016\/j.ijpharm.2022.122570","article-title":"Nanocarriers based novel and effective drug delivery system","volume":"632","author":"Khizar","year":"2023","journal-title":"Int. J. Pharm."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.jconrel.2022.01.008","article-title":"Non-viral vectors for RNA delivery","volume":"342","author":"Yan","year":"2022","journal-title":"J. Control. Release"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.addr.2016.01.022","article-title":"The role of helper lipids in lipid nanoparticles (LNPs) designed for oligonucleotide delivery","volume":"99","author":"Cheng","year":"2016","journal-title":"Adv. Drug Deliv. Rev."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"12181","DOI":"10.1021\/acs.chemrev.1c00244","article-title":"Lipids and Lipid Derivatives for RNA Delivery","volume":"121","author":"Zhang","year":"2021","journal-title":"Chem. Rev."}],"container-title":["Biomolecules"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2218-273X\/14\/9\/1138\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:51:55Z","timestamp":1760111515000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2218-273X\/14\/9\/1138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,9]]},"references-count":143,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["biom14091138"],"URL":"https:\/\/doi.org\/10.3390\/biom14091138","relation":{},"ISSN":["2218-273X"],"issn-type":[{"value":"2218-273X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,9]]}}}