{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T01:41:44Z","timestamp":1790991704864,"version":"4.1.0"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,1,10]],"date-time":"2017-01-10T00:00:00Z","timestamp":1484006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2017,1,10]],"date-time":"2017-01-10T00:00:00Z","timestamp":1484006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CMT1X, an X-linked inherited neuropathy, is caused by mutations in <jats:italic>GJB1<\/jats:italic>, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many <jats:italic>GJB1<\/jats:italic> mutations cause central nervous system (CNS) abnormality in males, including stable subclinical signs and, less often, short-duration episodes characterized by motor difficulties and altered consciousness. However, some mutations have no apparent CNS effects. What distinguishes mutations with and without CNS manifestations has been unclear. Here we studied a total of 14 Cx32 mutations, 10 of which are associated with florid episodic CNS clinical syndromes in addition to peripheral neuropathy. The other 4 mutations exhibit neuropathy without clinical or subclinical CNS abnormalities. These \u201cPNS-only\u201d mutations (Y151C, V181M, R183C and L239I) form gap junction plaques and produce levels of junctional coupling similar to those for wild-type Cx32. In contrast, mutants with CNS manifestations (F51L, E102del, V139M, R142Q, R142W, R164W T55I, R164Q and C168Y) either form no morphological gap junction plaques or, if they do, produce little or no detectable junctional coupling. Thus, PNS and CNS abnormalities may involve different aspects of connexin function.<\/jats:p>","DOI":"10.1038\/srep40166","type":"journal-article","created":{"date-parts":[[2017,1,10]],"date-time":"2017-01-10T10:44:56Z","timestamp":1484045096000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations"],"prefix":"10.1038","volume":"7","author":[{"given":"Charles K.","family":"Abrams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikhail","family":"Goman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven S.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kleopas A.","family":"Kleopa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Peinado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona M.","family":"Freidin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,1,10]]},"reference":[{"key":"BFsrep40166_CR1","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.ncl.2013.01.009","volume":"31","author":"MA Saporta","year":"2013","unstructured":"Saporta, M. A. & Shy, M. E. Inherited peripheral neuropathies. Neurol Clin 31, 597\u2013619 (2013).","journal-title":"Neurol Clin"},{"key":"BFsrep40166_CR2","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1126\/science.8266101","volume":"262","author":"J Bergoffen","year":"1993","unstructured":"Bergoffen, J. et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262, 2039\u20132042 (1993).","journal-title":"Science"},{"key":"BFsrep40166_CR3","doi-asserted-by":"crossref","first-page":"8281","DOI":"10.1523\/JNEUROSCI.15-12-08281.1995","volume":"15","author":"SS Scherer","year":"1995","unstructured":"Scherer, S. S. et al. Connexin32 is a myelin-related protein in the PNS and CNS. J Neurosci 15, 8281\u20138294 (1995).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR4","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0896-6273(00)80973-3","volume":"19","author":"S Oh","year":"1997","unstructured":"Oh, S. et al. Changes in permeability caused by connexin 32 mutations underlie X- linked Charcot-Marie-Tooth disease. Neuron 19, 927\u2013938 (1997).","journal-title":"Neuron"},{"key":"BFsrep40166_CR5","doi-asserted-by":"crossref","first-page":"13949","DOI":"10.1523\/JNEUROSCI.3395-07.2007","volume":"27","author":"JL Orthmann-Murphy","year":"2007","unstructured":"Orthmann-Murphy, J. L., Freidin, M., Fischer, E., Scherer, S. S. & Abrams, C. K. Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. J Neurosci 27, 13949\u201313957 (2007).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR6","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/glia.20991","volume":"58","author":"M Maglione","year":"2010","unstructured":"Maglione, M. et al. Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32. Glia 58, 1104\u20131117 (2010).","journal-title":"Glia"},{"key":"BFsrep40166_CR7","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.nbd.2011.03.003","volume":"42","author":"SK Wasseff","year":"2011","unstructured":"Wasseff, S. K. & Scherer, S. S. Cx32 and Cx47 mediate oligodendrocyte: Astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling. Neurobiol dis 42, 506\u2013513 (2011).","journal-title":"Neurobiol dis"},{"key":"BFsrep40166_CR8","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/s00441-014-2014-6","volume":"360","author":"CK Abrams","year":"2015","unstructured":"Abrams, C. K. & Freidin, M. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems. Cell Tissue Res 360, 659\u2013673 (2015).","journal-title":"Cell Tissue Res"},{"key":"BFsrep40166_CR9","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1001\/archneur.58.11.1891","volume":"58","author":"FM Hisama","year":"2001","unstructured":"Hisama, F. M. et al. Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system. Arch Neurol 58, 1891\u20131896 (2001).","journal-title":"Arch Neurol"},{"key":"BFsrep40166_CR10","doi-asserted-by":"crossref","first-page":"4329","DOI":"10.1093\/hmg\/ddt282","volume":"22","author":"M Caramins","year":"2013","unstructured":"Caramins, M. et al. Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet 22, 4329\u20134338 (2013).","journal-title":"Hum Mol Genet"},{"key":"BFsrep40166_CR11","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1111\/j.1529-8027.2012.00439.x","volume":"17","author":"C Stancanelli","year":"2012","unstructured":"Stancanelli, C. et al. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene. J Peripher Nerv Syst 17, 407\u2013411 (2012).","journal-title":"J Peripher Nerv Syst"},{"key":"BFsrep40166_CR12","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1136\/jnnp.66.6.803","volume":"66","author":"W Marques Jr.","year":"1999","unstructured":"Marques, W. Jr., Sweeney, J. G., Wood, N. W., Wroe, S. J. & Marques, W. Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. Journal of neurology, neurosurgery, and psychiatry 66, 803\u2013804 (1999).","journal-title":"Journal of neurology, neurosurgery, and psychiatry"},{"key":"BFsrep40166_CR13","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.2169\/internalmedicine.46.0047","volume":"46","author":"R Basri","year":"2007","unstructured":"Basri, R. et al. X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter. Internal medicine (Tokyo, Japan) 46, 1023\u20131027 (2007).","journal-title":"Internal medicine (Tokyo, Japan)"},{"key":"BFsrep40166_CR14","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1007\/s004390050442","volume":"99","author":"S Bort","year":"1997","unstructured":"Bort, S. et al. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 99, 746\u2013754 (1997).","journal-title":"Hum Genet"},{"key":"BFsrep40166_CR15","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1212\/WNL.57.10.1906","volume":"57","author":"M Panas","year":"2001","unstructured":"Panas, M., Kalfakis, N., Karadimas, C. & Vassilopoulos, D. Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. Neurology 57, 1906\u20131908 (2001).","journal-title":"Neurology"},{"key":"BFsrep40166_CR16","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1136\/jnnp.65.6.947a","volume":"65","author":"M Panas","year":"1998","unstructured":"Panas, M., Karadimas, C., Avramopoulos, D. & Vassilopoulos, D. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. Journal of Neurology Neurosurgery and Psychiatry 65, 947\u2013948 (1998).","journal-title":"Journal of Neurology Neurosurgery and Psychiatry"},{"key":"BFsrep40166_CR17","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ana.10305","volume":"52","author":"HL Paulson","year":"2002","unstructured":"Paulson, H. L. et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 52, 429\u2013434 (2002).","journal-title":"Ann Neurol"},{"key":"BFsrep40166_CR18","doi-asserted-by":"crossref","first-page":"2007","DOI":"10.1212\/01.WNL.0000038390.29853.46","volume":"59","author":"HJ Schelhaas","year":"2002","unstructured":"Schelhaas, H. J. et al. Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. Neurology 59, 2007\u20132008 (2002).","journal-title":"Neurology"},{"key":"BFsrep40166_CR19","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1212\/01.WNL.0000095960.48964.25","volume":"61","author":"RA Taylor","year":"2003","unstructured":"Taylor, R. A., Simon, E. M., Marks, H. G. & Scherer, S. S. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 61, 1475\u20131478 (2003).","journal-title":"Neurology"},{"key":"BFsrep40166_CR20","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1001\/archneur.60.4.605","volume":"60","author":"CO Hanemann","year":"2003","unstructured":"Hanemann, C. O., Bergmann, C., Senderek, J., Zerres, K. & Sperfeld, A. D. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 60, 605\u2013609 (2003).","journal-title":"Arch Neurol"},{"key":"BFsrep40166_CR21","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.1212\/01.wnl.0000186032.06791.94","volume":"65","author":"G Isoardo","year":"2005","unstructured":"Isoardo, G., Di Vito, N., Nobile, M., Benetton, G. & Fassio, F. X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. Neurology 65, 1672\u20131673 (2005).","journal-title":"Neurology"},{"key":"BFsrep40166_CR22","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1017\/S0317167100008994","volume":"35","author":"M Halbrich","year":"2008","unstructured":"Halbrich, M., Barnes, J., Bunge, M. & Joshi, C. A V139M mutation also causes the reversible CNS phenotype in CMTX. The Canadian journal of neurological sciences 35, 372\u2013374 (2008).","journal-title":"The Canadian journal of neurological sciences"},{"key":"BFsrep40166_CR23","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2007.12.003","volume":"38","author":"J Srinivasan","year":"2008","unstructured":"Srinivasan, J., Leventer, R. J., Kornberg, A. J., Dahl, H. H. & Ryan, M. M. & Central Nervous System Signs in X-Linked Charcot-Marie-Tooth Disease After Hyperventilation. Pediatr Neurol 38, 293\u2013295 (2008).","journal-title":"Pediatr Neurol"},{"key":"BFsrep40166_CR24","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1111\/j.1469-8749.2010.03674.x","volume":"52","author":"G Anand","year":"2010","unstructured":"Anand, G. et al. X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. Developmental medicine and child neurology 52, 677\u2013679 (2010).","journal-title":"Developmental medicine and child neurology"},{"key":"BFsrep40166_CR25","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1177\/0883073809352378","volume":"25","author":"T Rosser","year":"2010","unstructured":"Rosser, T., Muir, J., Panigrahy, A., Baldwin, E. E. & Boles, R. G. Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. J Child Neurol 25, 1013\u20131016 (2010).","journal-title":"J Child Neurol"},{"key":"BFsrep40166_CR26","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1177\/0883073809344119","volume":"25","author":"C Fusco","year":"2010","unstructured":"Fusco, C. et al. Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient. J Child Neurol 25, 759\u2013763 (2010).","journal-title":"J Child Neurol"},{"key":"BFsrep40166_CR27","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1212\/WNL.0b013e31822f046e","volume":"77","author":"A Basu","year":"2011","unstructured":"Basu, A., Horvath, R., Esisi, B., Birchall, D. & Chinnery, P. F. Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease. Neurology 77, 1205\u20131206 (2011).","journal-title":"Neurology"},{"key":"BFsrep40166_CR28","doi-asserted-by":"crossref","first-page":"e270","DOI":"10.1542\/peds.2012-3243","volume":"134","author":"GH Kim","year":"2014","unstructured":"Kim, G. H., Kim, K. M., Suh, S. I., Ki, C. S. & Eun, B. L. Charcot-marie-tooth disease masquerading as acute demyelinating encephalomyelitis-like illness. Pediatrics 134, e270\u2013273 (2014).","journal-title":"Pediatrics"},{"key":"BFsrep40166_CR29","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1177\/0883073812474343","volume":"29","author":"M Al-Mateen","year":"2014","unstructured":"Al-Mateen, M., Craig, A. K. & Chance, P. F. The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults. J Child Neurol 29, 342\u2013348 (2014).","journal-title":"J Child Neurol"},{"key":"BFsrep40166_CR30","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1055\/s-0035-1564619","volume":"46","author":"XM Shu","year":"2015","unstructured":"Shu, X. M., Tian, M. Q., Li, J., Peng, L. Y. & Yu, X. H. X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family. Neuropediatrics 46, 424\u2013427 (2015).","journal-title":"Neuropediatrics"},{"key":"BFsrep40166_CR31","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1212\/WNL.51.5.1412","volume":"51","author":"GA Nicholson","year":"1998","unstructured":"Nicholson, G. A., Yeung, L. & Corbett, A. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. Neurology 51, 1412\u20131416 (1998).","journal-title":"Neurology"},{"key":"BFsrep40166_CR32","doi-asserted-by":"crossref","first-page":"3609","DOI":"10.1074\/jbc.M112.392670","volume":"288","author":"CK Abrams","year":"2013","unstructured":"Abrams, C. K. et al. Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32. J Biol Chem 288, 3609\u20133619 (2013).","journal-title":"J Biol Chem"},{"key":"BFsrep40166_CR33","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.tcb.2006.01.006","volume":"16","author":"M Koval","year":"2006","unstructured":"Koval, M. Pathways and control of connexin oligomerization. Trends in cell biology 16, 159\u2013166 (2006).","journal-title":"Trends in cell biology"},{"key":"BFsrep40166_CR34","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1002\/(SICI)1096-9861(19970324)379:4<571::AID-CNE8>3.0.CO;2-#","volume":"379","author":"J Li","year":"1997","unstructured":"Li, J., Hertzberg, E. L. & Nagy, J. I. Connexin32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain. J Comp Neurol 379, 571\u2013591 (1997).","journal-title":"J Comp Neurol"},{"key":"BFsrep40166_CR35","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.1073\/pnas.050588497","volume":"97","author":"FF Bukauskas","year":"2000","unstructured":"Bukauskas, F. F. et al. Clustering of connexin 43-enhanced green fluorescent protein gap junction channels and functional coupling in living cells. Proc Natl Acad Sci USA 97, 2556\u20132561 (2000).","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFsrep40166_CR36","doi-asserted-by":"crossref","first-page":"9897","DOI":"10.1073\/pnas.1004552107","volume":"107","author":"N Palacios-Prado","year":"2010","unstructured":"Palacios-Prado, N. et al. pH-dependent modulation of voltage gating in connexin45 homotypic and connexin45\/connexin43 heterotypic gap junctions. Proc Natl Acad Sci USA 107, 9897\u20139902 (2010).","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFsrep40166_CR37","doi-asserted-by":"crossref","first-page":"1954","DOI":"10.1016\/S0006-3495(00)76444-7","volume":"79","author":"MG Hopperstad","year":"2000","unstructured":"Hopperstad, M. G., Srinivas, M. & Spray, D. C. Properties of gap junction channels formed by Cx46 alone and in combination with Cx50. Biophys J 79, 1954\u20131966 (2000).","journal-title":"Biophys J"},{"key":"BFsrep40166_CR38","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/S0165-0173(99)00082-X","volume":"32","author":"CK Abrams","year":"2000","unstructured":"Abrams, C. K., Oh, S., Ri, Y. & Bargiello, T. A. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev 32, 203\u2013214 (2000).","journal-title":"Brain Res Brain Res Rev"},{"key":"BFsrep40166_CR39","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1083\/jcb.129.3.805","volume":"129","author":"C Elfgang","year":"1995","unstructured":"Elfgang, C. et al. Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. J Cell Biol 129, 805\u2013817 (1995).","journal-title":"J Cell Biol"},{"key":"BFsrep40166_CR40","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/s002320001094","volume":"176","author":"B Teubner","year":"2000","unstructured":"Teubner, B. et al. Functional expression of the murine connexin 36 gene coding for a neuron-specific gap junctional protein. J Membr Biol 176, 249\u2013262 (2000).","journal-title":"J Membr Biol"},{"key":"BFsrep40166_CR41","doi-asserted-by":"crossref","first-page":"3287","DOI":"10.1093\/hmg\/ddg364","volume":"12","author":"L Plantard","year":"2003","unstructured":"Plantard, L., Huber, M., Macari, F., Meda, P. & Hohl, D. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. Hum Mol Genet 12, 3287\u20133294 (2003).","journal-title":"Hum Mol Genet"},{"key":"BFsrep40166_CR42","doi-asserted-by":"crossref","first-page":"6458","DOI":"10.1523\/JNEUROSCI.22-15-06458.2002","volume":"22","author":"BM Altevogt","year":"2002","unstructured":"Altevogt, B. M., Kleopa, K. A., Postma, F. R., Scherer, S. S. & Paul, D. L. Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. J Neurosci 22, 6458\u20136470 (2002).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR43","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/jnr.21561","volume":"86","author":"M Ahn","year":"2008","unstructured":"Ahn, M. et al. Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct. J. Neurosci. Res. 86, 992\u20131006 (2008).","journal-title":"J. Neurosci. Res."},{"key":"BFsrep40166_CR44","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/jnr.10255","volume":"68","author":"KA Kleopa","year":"2002","unstructured":"Kleopa, K. A., Yum, S. W. & Scherer, S. S. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J Neurosci Res 68, 522\u2013534 (2002).","journal-title":"J Neurosci Res"},{"key":"BFsrep40166_CR45","doi-asserted-by":"crossref","first-page":"4736","DOI":"10.1523\/JNEUROSCI.0325-09.2009","volume":"29","author":"I Sargiannidou","year":"2009","unstructured":"Sargiannidou, I. et al. Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects. J Neurosci 29, 4736\u20134749 (2009).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR46","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1006\/nbdi.2002.0545","volume":"11","author":"SW Yum","year":"2002","unstructured":"Yum, S. W., Kleopa, K. A., Shumas, S. & Scherer, S. S. Diverse trafficking abnormalities of connexin32 mutants causing CMTX. Neurobiol Dis 11, 43\u201352 (2002).","journal-title":"Neurobiol Dis"},{"key":"BFsrep40166_CR47","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.mcn.2006.05.001","volume":"32","author":"LJ Jeng","year":"2006","unstructured":"Jeng, L. J., Balice-Gordon, R. J., Messing, A., Fischbeck, K. H. & Scherer, S. S. The effects of a dominant connexin32 mutant in myelinating Schwann cells. Mol Cell Neurosci 32, 283\u2013298 (2006).","journal-title":"Mol Cell Neurosci"},{"key":"BFsrep40166_CR48","doi-asserted-by":"crossref","first-page":"7111","DOI":"10.1523\/JNEUROSCI.1319-05.2005","volume":"25","author":"Y Huang","year":"2005","unstructured":"Huang, Y., Sirkowski, E. E., Stickney, J. T. & Scherer, S. S. Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells. J Neurosci 25, 7111\u20137120 (2005).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR49","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0006-8993(00)03327-8","volume":"900","author":"CK Abrams","year":"2001","unstructured":"Abrams, C. K., Freidin, M. M., Verselis, V. K., Bennett, M. V. & Bargiello, T. A. Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease. Brain Res 900, 9\u201325 (2001).","journal-title":"Brain Res"},{"key":"BFsrep40166_CR50","doi-asserted-by":"crossref","first-page":"10548","DOI":"10.1523\/JNEUROSCI.23-33-10548.2003","volume":"23","author":"CK Abrams","year":"2003","unstructured":"Abrams, C. K. et al. Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. J Neurosci 23, 10548\u201310558 (2003).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR51","doi-asserted-by":"crossref","first-page":"4063","DOI":"10.1523\/JNEUROSCI.18-11-04063.1998","volume":"18","author":"C Ressot","year":"1998","unstructured":"Ressot, C., Gomes, D., Dautigny, A., Pham-Dinh, D. & Bruzzone, R. Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. J Neurosci 18, 4063\u20134075 (1998).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR52","doi-asserted-by":"crossref","unstructured":"Sargiannidou, I., Kim, G. H., Kyriakoudi, S., Eun, B. L. & Kleopa, K. A. A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32. Neurogenetics (2015).","DOI":"10.1007\/s10048-015-0442-4"},{"key":"BFsrep40166_CR53","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1212\/01.wnl.0000256709.08271.4d","volume":"68","author":"ME Shy","year":"2007","unstructured":"Shy, M. E. et al. CMT1X phenotypes represent loss of GJB1 gene function. Neurology 68, 849\u2013855 (2007).","journal-title":"Neurology"},{"key":"BFsrep40166_CR54","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.nbd.2005.09.005","volume":"21","author":"M Bicego","year":"2006","unstructured":"Bicego, M. et al. Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 21, 607\u2013617 (2006).","journal-title":"Neurobiol Dis"},{"key":"BFsrep40166_CR55","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0896-6273(00)80973-3","volume":"19","author":"S Oh","year":"1997","unstructured":"Oh, S. et al. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron 19, 927\u2013938 (1997).","journal-title":"Neuron"},{"key":"BFsrep40166_CR56","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.1002\/glia.22568","volume":"61","author":"A Nualart-Marti","year":"2013","unstructured":"Nualart-Marti, A. et al. Role of connexin 32 hemichannels in the release of ATP from peripheral nerves. Glia 61, 1976\u20131989 (2013).","journal-title":"Glia"},{"key":"BFsrep40166_CR57","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1083\/jcb.142.4.1095","volume":"142","author":"RJ Balice-Gordon","year":"1998","unstructured":"Balice-Gordon, R. J., Bone, L. J. & Scherer, S. S. Functional gap junctions in the schwann cell myelin sheath. J Cell Biol 142, 1095\u20131104 (1998).","journal-title":"J Cell Biol"},{"key":"BFsrep40166_CR58","first-page":"992","volume":"86","author":"M Ahn","year":"2008","unstructured":"Ahn, M. et al. Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct. J Neurosci 86, 992\u20131006 (2008).","journal-title":"J Neurosci"},{"key":"BFsrep40166_CR59","doi-asserted-by":"crossref","first-page":"8770","DOI":"10.1038\/ncomms9770","volume":"7","author":"BC Bennett","year":"2016","unstructured":"Bennett, B. C. et al. Regulation of gap junction channels. Nat Commun. 7, 8770 (2016).","journal-title":"Nat Commun."},{"key":"BFsrep40166_CR60","first-page":"1010","volume":"52","author":"T Stojkovic","year":"1999","unstructured":"Stojkovic, T., Latour, P., Vandenberghe, A., Hurtevent, J. F. & Vermersch, P. Sensorineural deafness in x-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Am Acad Neurol 52, 1010\u20131014 (1999).","journal-title":"Am Acad Neurol"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/srep40166.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/srep40166","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/srep40166.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T01:00:57Z","timestamp":1671843657000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/srep40166"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,10]]},"references-count":60,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,3,15]]}},"alternative-id":["BFsrep40166"],"URL":"https:\/\/doi.org\/10.1038\/srep40166","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,10]]},"assertion":[{"value":"9 August 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 December 2016","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 January 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"40166"}}