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• W2132844456 abstract "X-linked Charcot-Marie-Tooth disease (CMT1X) is a common inherited neuropathy caused by mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32). Clinical studies and disease models indicate that neuropathy mainly results from Schwann cell autonomous, loss-of-function mechanisms; therefore, CMT1X may be treatable by gene replacement.A lentiviral vector LV.Mpz-GJB1 carrying the GJB1 gene under the Schwann cell-specific myelin protein zero (Mpz) promoter was generated and delivered into the mouse sciatic nerve by a single injection immediately distal to the sciatic notch. Enhanced green fluorescent protein (EGFP) reporter gene expression was quantified and Cx32 expression was examined on a Cx32 knockout (KO) background. A gene therapy trial was performed in a Cx32 KO model of CMT1X.EGFP was expressed throughout the length of the sciatic nerve in up to 50% of Schwann cells starting 2 weeks after injection and remaining stable for up to 16 weeks. Following LV.Mpz-GJB1 injection into Cx32 KO nerves, we detected Cx32 expression and correct localization in non-compact myelin areas where gap junctions are normally formed. Gene therapy trial by intraneural injection in groups of 2-month-old Cx32 KO mice, before demyelination onset, significantly reduced the ratio of abnormally myelinated fibers (p = 0.00148) and secondary inflammation (p = 0.0178) at 6 months of age compared to mock-treated animals.Gene delivery using a lentiviral vector leads to efficient gene expression specifically in Schwann cells. Restoration of Cx32 expression ameliorates nerve pathology in a disease model and provides a promising approach for future treatments of CMT1X and other inherited neuropathies." @default.
• W2132844456 created "2016-06-24" @default.
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• W2132844456 date "2015-06-30" @default.
• W2132844456 modified "2023-10-07" @default.
• W2132844456 title "Intraneural<i>GJB</i><i>1</i>gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease" @default.
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• W2132844456 cites W1971627794 @default.
• W2132844456 cites W1971646081 @default.
• W2132844456 cites W1975324741 @default.
• W2132844456 cites W1977153441 @default.
• W2132844456 cites W1982617892 @default.
• W2132844456 cites W1983806987 @default.
• W2132844456 cites W1984800697 @default.
• W2132844456 cites W1989814487 @default.
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• W2132844456 cites W2014105239 @default.
• W2132844456 cites W2018978435 @default.
• W2132844456 cites W2022084199 @default.
• W2132844456 cites W2027988535 @default.
• W2132844456 cites W2035233735 @default.
• W2132844456 cites W2045995615 @default.
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• W2132844456 doi "https://doi.org/10.1002/ana.24441" @default.
• W2132844456 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26010264" @default.
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