{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T07:55:51Z","timestamp":1791618951738,"version":"4.3.4"},"reference-count":108,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T00:00:00Z","timestamp":1709510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP19002"],"award-info":[{"award-number":["GGP19002"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2018-12365358"],"award-info":[{"award-number":["GR-2018-12365358"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1016\/j.nbd.2024.106467","type":"journal-article","created":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T17:21:04Z","timestamp":1709659264000},"page":"106467","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"special_numbering":"C","title":["Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives"],"prefix":"10.1016","volume":"193","author":[{"given":"Claudia","family":"Alberti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Anastasia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Comi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Abati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2024.106467_bb0005","doi-asserted-by":"crossref","first-page":"6181","DOI":"10.1038\/s41598-022-10220-0","article-title":"Clinical and genetic features of a cohort of patients with MFN2-related neuropathy","volume":"12","author":"Abati","year":"2022","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nbd.2024.106467_bb0010","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.pmr.2012.06.001","article-title":"Exercise in neuromuscular diseases","volume":"23","author":"Abresch","year":"2012","journal-title":"Phys. Med. Rehabil. Clin. N. Am."},{"key":"10.1016\/j.nbd.2024.106467_bb0015","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.expneurol.2008.01.010","article-title":"Mitochondrial fusion and function in Charcot-Marie-tooth type 2A patient fibroblasts with mitofusin 2 mutations","volume":"211","author":"Amiott","year":"2008","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0020","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1523\/JNEUROSCI.4798-06.2007","article-title":"Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-tooth disease from Mitofusin 2 mutations","volume":"27","author":"Baloh","year":"2007","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2024.106467_bb0025","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0167573","article-title":"Mice hemizygous for a pathogenic Mitofusin-2 allele exhibit hind limb\/foot gait deficits and phenotypic perturbations in nerve and muscle","volume":"11","author":"Bannerman","year":"2016","journal-title":"PloS One"},{"key":"10.1016\/j.nbd.2024.106467_bb0030","doi-asserted-by":"crossref","first-page":"6460","DOI":"10.1007\/s12035-019-1533-2","article-title":"Disease modeling and therapeutic strategies in CMT2A: state of the art","volume":"56","author":"Barbullushi","year":"2019","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.nbd.2024.106467_bb0040","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1093\/brain\/awx375","article-title":"HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-tooth disease","volume":"141","author":"Benoy","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0045","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1093\/brain\/awv008","article-title":"Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration","volume":"138","author":"Bernard-Marissal","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0050","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1073\/pnas.1810932116","article-title":"Altered interplay between endoplasmic reticulum and mitochondria in Charcot\u2013Marie\u2013tooth type 2A neuropathy","volume":"116","author":"Bernard-Marissal","year":"2019","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0055","doi-asserted-by":"crossref","first-page":"iv","DOI":"10.1111\/ane.12013","article-title":"Genetic epidemiology of Charcot-Marie-tooth disease","author":"Braathen","year":"2012","journal-title":"Acta Neurol. Scand. Suppl."},{"key":"10.1016\/j.nbd.2024.106467_bb0060","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1001\/archneurol.2009.284","article-title":"Genotype-phenotype correlations in Charcot-Marie-tooth disease type 2 caused by Mitofusin 2 mutations","volume":"66","author":"Calvo","year":"2009","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0065","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.expneurol.2009.05.003","article-title":"Role of mitofusin 2 mutations in the physiopathology of Charcot\u2013Marie\u2013tooth disease type 2A","volume":"218","author":"Cartoni","year":"2009","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0070","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1093\/brain\/awq082","article-title":"Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-tooth neuropathy type 2A","volume":"133","author":"Cartoni","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0075","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1136\/jmg.2009.072488","article-title":"Phenotypic spectrum of MFN2 mutations in the Spanish population","volume":"47","author":"Casasnovas Pons","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0080","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1111\/brv.12378","article-title":"Structure, function, and regulation of mitofusin-2 in health and disease","volume":"93","author":"Chandhok","year":"2018","journal-title":"Biol. Rev. Camb. Philos. Soc."},{"key":"10.1016\/j.nbd.2024.106467_bb0085","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1126\/science.1231031","article-title":"PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria","volume":"340","author":"Chen","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.nbd.2024.106467_bb0090","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1083\/jcb.200211046","article-title":"Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development","volume":"160","author":"Chen","year":"2003","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0095","doi-asserted-by":"crossref","first-page":"26185","DOI":"10.1074\/jbc.M503062200","article-title":"Disruption of fusion results in mitochondrial heterogeneity and dysfunction","volume":"280","author":"Chen","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2024.106467_bb0100","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":"10.1016\/j.nbd.2024.106467_bb0105","doi-asserted-by":"crossref","first-page":"9429","DOI":"10.1523\/JNEUROSCI.1472-09.2009","article-title":"Dynein light chain LC8 regulates syntaphilin-mediated mitochondrial docking in axons","volume":"29","author":"Chen","year":"2009","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2024.106467_bb0110","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0046293","article-title":"Mitofusin-2 independent juxtaposition of endoplasmic reticulum and mitochondria: an ultrastructural study","volume":"7","author":"Cosson","year":"2012","journal-title":"PloS One"},{"key":"10.1016\/j.nbd.2024.106467_bb0115","doi-asserted-by":"crossref","first-page":"7033","DOI":"10.1021\/acs.jmedchem.0c00366","article-title":"Discovery of 6-Phenylhexanamide derivatives as potent Stereoselective Mitofusin activators for the treatment of mitochondrial diseases","volume":"63","author":"Dang","year":"2020","journal-title":"J. Med. Chem."},{"key":"10.1016\/j.nbd.2024.106467_bb0120","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/nature07534","article-title":"Mitofusin 2 tethers endoplasmic reticulum to mitochondria","volume":"456","author":"de Brito","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2024.106467_bb0125","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1083\/jcb.200611080","article-title":"Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations","volume":"176","author":"Detmer","year":"2007","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0130","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/ddm314","article-title":"Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot\u2013Marie\u2013tooth type 2A","volume":"17","author":"Detmer","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0140","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1038\/nm.2396","article-title":"HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1\u2013induced Charcot-Marie-tooth disease","volume":"17","author":"d\u2019Ydewalle","year":"2011","journal-title":"Nat. Med."},{"key":"10.1016\/j.nbd.2024.106467_bb0145","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/jb\/mvg150","article-title":"Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion","volume":"134","author":"Eura","year":"2003","journal-title":"J. Biochem."},{"key":"10.1016\/j.nbd.2024.106467_bb0150","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1212\/WNL.0b013e31821a441e","article-title":"MFN2 mutations cause severe phenotypes in most patients with CMT2A","volume":"76","author":"Feely","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2024.106467_bb0155","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.1504880112","article-title":"Mitofusin 2 ablation increases endoplasmic reticulum\u2013mitochondria coupling","volume":"112","author":"Filadi","year":"2015","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0160","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1038\/nature20156","article-title":"Correcting mitochondrial fusion by manipulating mitofusin conformations","volume":"540","author":"Franco","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.nbd.2024.106467_bb0165","doi-asserted-by":"crossref","first-page":"2110","DOI":"10.3390\/life12122110","article-title":"Mitochondria clumping vs. mitochondria fusion in CMT2A diseases","volume":"12","author":"Franco","year":"2022","journal-title":"Life"},{"key":"10.1016\/j.nbd.2024.106467_bb0170","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jnnp-2014-308826","article-title":"CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a cross-sectional analysis","volume":"86","author":"Fridman","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nbd.2024.106467_bb0175","first-page":"1","article-title":"Histone deacetylase inhibitors modulating non-epigenetic players: the novel molecular targets for therapeutic intervention","volume":"17","author":"Ganai","year":"2016","journal-title":"Curr. Drug Targets"},{"key":"10.1016\/j.nbd.2024.106467_bb0180","doi-asserted-by":"crossref","first-page":"4861","DOI":"10.1093\/hmg\/ddq419","article-title":"Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1\/parkin-dependent manner upon induction of mitophagy","volume":"19","author":"Gegg","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0185","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1084\/jem.20181040","article-title":"Gene therapy targeting SARM1 blocks pathological axon degeneration in mice","volume":"216","author":"Geisler","year":"2019","journal-title":"J. Exp. Med."},{"issue":"348","key":"10.1016\/j.nbd.2024.106467_bb0190","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1126\/science.1258366","article-title":"SARM1 activation triggers axon degeneration locally via NAD + destruction","volume":"1979","author":"Gerdts","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.nbd.2024.106467_bb0195","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.neuron.2015.12.023","article-title":"Axon self-destruction: new links among SARM1, MAPKs, and NAD+ metabolism","volume":"89","author":"Gerdts","year":"2016","journal-title":"Neuron"},{"key":"10.1016\/j.nbd.2024.106467_bb0200","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.gene.2005.09.010","article-title":"Acetylation and deacetylation of non-histone proteins","volume":"363","author":"Glozak","year":"2005","journal-title":"Gene"},{"key":"10.1016\/j.nbd.2024.106467_bb0205","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1016\/j.bbadis.2015.08.012","article-title":"HDAC6 inhibition induces mitochondrial fusion, autophagic flux and reduces diffuse mutant huntingtin in striatal neurons","volume":"1852","author":"Guedes-Dias","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.nbd.2024.106467_bb0210","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1091\/mbc.e09-01-0044","article-title":"Posttranslational modifications of tubulin and the polarized transport of kinesin-1 in neurons","volume":"21","author":"Hammond","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.nbd.2024.106467_bb0215","doi-asserted-by":"crossref","first-page":"7916","DOI":"10.1073\/pnas.1300677110","article-title":"Modulation of the endoplasmic reticulum\u2013mitochondria interface in Alzheimer\u2019s disease and related models","volume":"110","author":"Hedskog","year":"2013","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0220","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.nurt.2008.07.001","article-title":"Experimental therapeutics in hereditary neuropathies: the past, the present, and the future","volume":"5","author":"Herrmann","year":"2008","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.nbd.2024.106467_bb0225","first-page":"953","article-title":"A novel ENU-induced Mfn2 mutation causes motor deficits in mice without causing peripheral neuropathy","volume":"12","author":"Hines","year":"2023","journal-title":"Biology (Basel)"},{"key":"10.1016\/j.nbd.2024.106467_bb0230","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.108588","article-title":"Small molecule SARM1 inhibitors recapitulate the SARM1\u2212\/\u2212 phenotype and allow recovery of a metastable Pool of axons fated to degenerate","volume":"34","author":"Hughes","year":"2021","journal-title":"Cell Rep."},{"key":"10.1016\/j.nbd.2024.106467_bb0235","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1136\/jnnp-2018-318834","article-title":"Challenges in modelling the Charcot-Marie-tooth neuropathies for therapy development","volume":"90","author":"Juneja","year":"2019","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nbd.2024.106467_bb0240","doi-asserted-by":"crossref","first-page":"3528","DOI":"10.1093\/hmg\/ddz199","article-title":"Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X","volume":"28","author":"Kagiava","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0245","doi-asserted-by":"crossref","DOI":"10.1083\/jcb.201702187","article-title":"Deacetylation of Miro1 by HDAC6 blocks mitochondrial transport and mediates axon growth inhibition","volume":"218","author":"Kalinski","year":"2019","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0250","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.cell.2007.11.024","article-title":"Docking of axonal mitochondria by Syntaphilin controls their mobility and affects short-term facilitation","volume":"132","author":"Kang","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.nbd.2024.106467_bb0255","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.ceb.2011.05.007","article-title":"Regulating mitochondrial outer membrane proteins by ubiquitination and proteasomal degradation","volume":"23","author":"Karbowski","year":"2011","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0260","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00439-004-1199-2","article-title":"Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A","volume":"116","author":"Kijima","year":"2005","journal-title":"Hum. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0265","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1126\/science.1099793","article-title":"Structural basis of mitochondrial tethering by mitofusin complexes","volume":"305","author":"Koshiba","year":"2004","journal-title":"Science"},{"issue":"305","key":"10.1016\/j.nbd.2024.106467_bb0270","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1126\/science.1099793","article-title":"Structural basis of mitochondrial tethering by Mitofusin complexes","volume":"1979","author":"Koshiba","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.nbd.2024.106467_bb0275","first-page":"564","article-title":"Human Miltons associate with mitochondria and induce microtubule-dependent remodeling of mitochondrial networks. Biochimica et Biophysica Acta (BBA) - molecular","volume":"1803","author":"Koutsopoulos","year":"2010","journal-title":"Cell Res."},{"key":"10.1016\/j.nbd.2024.106467_bb0280","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1093\/hmg\/ddy352","article-title":"Sensory neuropathy-causing mutations in ATL3 affect ER\u2013mitochondria contact sites and impair axonal mitochondrial distribution","volume":"28","author":"Krols","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0285","doi-asserted-by":"crossref","first-page":"4035","DOI":"10.1096\/fj.201801680R","article-title":"The unraveling of substrate specificity of histone deacetylase 6 domains using acetylome peptide microarrays and peptide libraries","volume":"33","author":"Kutil","year":"2019","journal-title":"FASEB J."},{"key":"10.1016\/j.nbd.2024.106467_bb0290","doi-asserted-by":"crossref","DOI":"10.1097\/WCO.0000000000000735","article-title":"Charcot-marie-tooth disease and related disorders: an evolving landscape","author":"Laur\u00e1","year":"2019","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0295","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.fas.2009.10.002","article-title":"Flexible cavovarus feet in Charcot-Marie-tooth disease treated with first ray proximal dorsiflexion osteotomy combined with soft tissue surgery: a short-term to mid-term outcome study","volume":"16","author":"Leeuwesteijn","year":"2010","journal-title":"Foot Ankle Surg."},{"key":"10.1016\/j.nbd.2024.106467_bb0300","article-title":"Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset","volume":"10","author":"Li","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2024.106467_bb0305","article-title":"Reciprocal regulation of Mitofusin 2-mediated Mitophagy and mitochondrial fusion by different PINK1 phosphorylation events","volume":"10","author":"Li","year":"2022","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0310","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ana.21086","article-title":"Mitochondrial coupling defect in Charcot-Marie-tooth type 2A disease","volume":"61","author":"Loiseau","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0315","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.nbd.2024.106467_bb0320","doi-asserted-by":"crossref","first-page":"2791","DOI":"10.1242\/jcs.01130","article-title":"Axonal mitochondrial transport and potential are correlated","volume":"117","author":"Miller","year":"2004","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0325","doi-asserted-by":"crossref","first-page":"1612","DOI":"10.1212\/WNL.0b013e3182563c46","article-title":"Mitochondrial dynamics: general concepts and clinical implications","volume":"78","author":"Milone","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2024.106467_bb0330","doi-asserted-by":"crossref","first-page":"4232","DOI":"10.1523\/JNEUROSCI.6248-09.2010","article-title":"Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro\/Milton complex","volume":"30","author":"Misko","year":"2010","journal-title":"J. Neurosci."},{"issue":"9","key":"10.1016\/j.nbd.2024.106467_bb0335","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nchembio.2140","article-title":"Structural insights into HDAC6 tubulin deacetylation and its selective inhibition","volume":"12","author":"Miyake","year":"2016","journal-title":"Nature Chemical Biology"},{"key":"10.1016\/j.nbd.2024.106467_bb0340","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1038\/s41467-018-03461-z","article-title":"Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-tooth neuropathy","volume":"9","author":"Mo","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nbd.2024.106467_bb0345","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1038\/emboj.2013.168","article-title":"Mfn2 modulates the UPR and mitochondrial function via repression of PERK","volume":"32","author":"Mu\u00f1oz","year":"2013","journal-title":"EMBO J."},{"key":"10.1016\/j.nbd.2024.106467_bb0350","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1136\/jnnp-2012-302451","article-title":"Charcot-Marie-tooth disease: frequency of genetic subtypes and guidelines for genetic testing","volume":"83","author":"Murphy","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nbd.2024.106467_bb0355","doi-asserted-by":"crossref","first-page":"11249","DOI":"10.1073\/pnas.1606786113","article-title":"Critical reappraisal confirms that Mitofusin 2 is an endoplasmic reticulum\u2013mitochondria tether","volume":"113","author":"Naon","year":"2016","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0360","doi-asserted-by":"crossref","first-page":"20321","DOI":"10.1074\/jbc.M112.359174","article-title":"Loss of Mitofusin 2 promotes endoplasmic reticulum stress","volume":"287","author":"Ngoh","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2024.106467_bb0365","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1212\/01.wnl.0000311275.89032.22","article-title":"Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations","volume":"70","author":"Nicholson","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2024.106467_bb0370","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a008839","article-title":"Autophagy and neuronal cell death in neurological disorders","volume":"4","author":"Nixon","year":"2012","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0375","doi-asserted-by":"crossref","first-page":"4912","DOI":"10.1021\/acs.biochem.9b00934","article-title":"Structural basis of catalysis and inhibition of HDAC6 CD1, the enigmatic catalytic domain of histone deacetylase 6","volume":"58","author":"Osko","year":"2019","journal-title":"Biochemistry"},{"issue":"337","key":"10.1016\/j.nbd.2024.106467_bb0380","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1126\/science.1223899","article-title":"dSarm\/Sarm1 is required for activation of an injury-induced axon death pathway","volume":"1979","author":"Osterloh","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.nbd.2024.106467_bb0385","doi-asserted-by":"crossref","DOI":"10.1016\/j.expneurol.2020.113281","article-title":"HDAC6 inhibition promotes \u03b1-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice","volume":"328","author":"Picci","year":"2020","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0390","article-title":"Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study","author":"Pipis","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0395","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/jns.12145","article-title":"Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations","volume":"20","author":"Piscosquito","year":"2015","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.nbd.2024.106467_bb0400","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1212\/WNL.0b013e3182242d4d","article-title":"Recessive axonal Charcot-Marie-tooth disease due to compound heterozygous mitofusin 2 mutations","volume":"77","author":"Polke","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2024.106467_bb0405","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1080\/14728222.2018.1541235","article-title":"HDAC6 as a potential therapeutic target for peripheral nerve disorders","volume":"22","author":"Prior","year":"2018","journal-title":"Expert Opin. Ther. Targets"},{"key":"10.1016\/j.nbd.2024.106467_bb0410","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1529-8027.2011.00324.x","article-title":"Charcot-Marie-tooth disease","volume":"16","author":"Reilly","year":"2011","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.nbd.2024.106467_bb0415","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1016\/j.nmd.2017.09.005","article-title":"221st ENMC international workshop","volume":"27","author":"Reilly","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.nbd.2024.106467_bb0420","doi-asserted-by":"crossref","first-page":"4266","DOI":"10.1093\/hmg\/ddw258","article-title":"Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-tooth 2A motor neurons","volume":"25","author":"Rizzo","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2024.106467_bb0425","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s00018-023-05018-w","article-title":"Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot\u2013Marie\u2013tooth type 2A","volume":"80","author":"Rizzo","year":"2023","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0430","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1126\/science.aao1785","article-title":"MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-tooth disease type 2A","volume":"360","author":"Rocha","year":"2018","journal-title":"Science"},{"key":"10.1016\/j.nbd.2024.106467_bb0435","doi-asserted-by":"crossref","DOI":"10.1016\/j.brainres.2019.146625","article-title":"Are we prepared for clinical trials in Charcot-Marie-tooth disease?","volume":"1729","author":"Rossor","year":"2020","journal-title":"Brain Res."},{"key":"10.1016\/j.nbd.2024.106467_bb0440","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.201900527","article-title":"Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax","volume":"3","author":"Samanas","year":"2020","journal-title":"Life Sci Alliance"},{"key":"10.1016\/j.nbd.2024.106467_bb0445","doi-asserted-by":"crossref","first-page":"2763","DOI":"10.1242\/jcs.00479","article-title":"Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells","volume":"116","author":"Santel","year":"2003","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0450","doi-asserted-by":"crossref","first-page":"20728","DOI":"10.1073\/pnas.0808953105","article-title":"Bidirectional Ca2+-dependent control of mitochondrial dynamics by the Miro GTPase","volume":"105","author":"Saotome","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2024.106467_bb0455","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.expneurol.2014.10.005","article-title":"Axonal Charcot-Marie-tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties","volume":"263","author":"Saporta","year":"2015","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2024.106467_bb0460","doi-asserted-by":"crossref","DOI":"10.1172\/JCI161566","article-title":"A SARM1-mitochondrial feedback loop drives neuropathogenesis in a Charcot-Marie-tooth disease type 2A rat model","volume":"132","author":"Sato-Yamada","year":"2022","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.nbd.2024.106467_bb0465","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1093\/brain\/awz064","article-title":"Gene replacement therapy in a model of Charcot-Marie-tooth 4C neuropathy","volume":"142","author":"Schiza","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0470","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2023.106270","article-title":"MFN1 augmentation prevents retinal degeneration in a Charcot-Marie-Tooth type 2A mouse model","volume":"26","author":"Shahin","year":"2023","journal-title":"iScience"},{"key":"10.1016\/j.nbd.2024.106467_bb0475","doi-asserted-by":"crossref","first-page":"4810","DOI":"10.1021\/acs.jmedchem.0c02210","article-title":"Tetrahydroquinoline-capped histone deacetylase 6 inhibitor SW-101 ameliorates pathological phenotypes in a Charcot-Marie-tooth type 2A mouse model","volume":"64","author":"Shen","year":"2021","journal-title":"J. Med. Chem."},{"key":"10.1016\/j.nbd.2024.106467_bb0480","doi-asserted-by":"crossref","first-page":"3525","DOI":"10.1091\/mbc.e09-03-0252","article-title":"Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion","volume":"20","author":"Song","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.nbd.2024.106467_bb0485","doi-asserted-by":"crossref","DOI":"10.3390\/ijms222111569","article-title":"Aberrant mitochondrial dynamics and exacerbated response to neuroinflammation in a novel mouse model of cmt2a","volume":"22","author":"Stavropoulos","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0490","doi-asserted-by":"crossref","DOI":"10.1111\/jns.12564","article-title":"Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro","volume":"28","author":"Stavropoulos","year":"2023","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.nbd.2024.106467_bb0495","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.jns.2015.05.033","article-title":"MFN2-related neuropathies: clinical features, molecular pathogenesis and therapeutic perspectives","volume":"356","author":"Stuppia","year":"2015","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.nbd.2024.106467_bb0500","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1007\/s12035-019-01796-2","article-title":"DLK activation synergizes with mitochondrial dysfunction to downregulate axon survival factors and promote SARM1-dependent axon degeneration","volume":"57","author":"Summers","year":"2020","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.nbd.2024.106467_bb0505","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1083\/jcb.201007013","article-title":"Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin","volume":"191","author":"Tanaka","year":"2010","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.nbd.2024.106467_bb0510","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1111\/jns.12155","article-title":"Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling","volume":"21","author":"Tomaselli","year":"2016","journal-title":"J. Peripher. Nerv. Syst."},{"key":"10.1016\/j.nbd.2024.106467_bb0515","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.108079","article-title":"Mitofusin 2 in macrophages links mitochondrial ROS production, cytokine release, phagocytosis, autophagy, and bactericidal activity","volume":"32","author":"Tur","year":"2020","journal-title":"Cell Rep."},{"key":"10.1016\/j.nbd.2024.106467_bb0520","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":"Van Lent","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0525","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/brain\/awl126","article-title":"MFN2 mutation distribution and genotype\/phenotype correlation in Charcot-Marie-tooth type 2","volume":"129","author":"Verhoeven","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.nbd.2024.106467_bb0530","first-page":"2631","article-title":"Long-term results of reconstruction for treatment of a flexible Cavovarus foot in Charcot-Marie-tooth disease","volume":"90","author":"Ward","year":"2008","journal-title":"The Journal of Bone and Joint Surgery-American"},{"key":"10.1016\/j.nbd.2024.106467_bb0535","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.bbalip.2014.02.001","article-title":"Regulation of autophagy and mitophagy by nutrient availability and acetylation","volume":"1841","author":"Webster","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.nbd.2024.106467_bb0540","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1097\/MOP.0b013e32834e9051","article-title":"Pediatric orthopedic conditions in Charcot\u2013Marie\u2013tooth disease","volume":"24","author":"Yagerman","year":"2012","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.nbd.2024.106467_bb0545","doi-asserted-by":"crossref","DOI":"10.1172\/JCI147307","article-title":"Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-tooth type 2A model","volume":"131","author":"Zhou","year":"2021","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.nbd.2024.106467_bb0550","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":"Z\u00fcchner","year":"2004","journal-title":"Nat. Genet."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996124000664?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996124000664?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T19:26:56Z","timestamp":1725737216000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996124000664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":108,"alternative-id":["S0969996124000664"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2024.106467","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2024.106467","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"106467"}}