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Article

Intrathecal gene therapy in mouse models expressing CMT1X mutations.

Human molecular genetics - 15 Apr 2018

Kagiava A, Karaiskos C, Richter J, Tryfonos C, Lapathitis G, Sargiannidou I, Christodoulou C, Kleopa K A

Abstract excerpt

Gap junction beta-1 (GJB1) gene mutations affecting the gap junction protein connexin32 (Cx32) cause the X-linked Charcot-Marie-Tooth disease (CMT1X), a common inherited neuropathy. Targeted expression of virally delivered Cx32 in Schwann cells following intrathecal injection of lentiviral vectors in the Cx32 knockout (KO) mouse model of the disease has led to morphological and functional improvement. To examine...

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Source

Identifiers

PMID: 29462293
DOI: 10.1093/hmg/ddy056

Genes

GJB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Intrathecal gene therapy in mouse models expressing CMT1X mutations.PMID 29462293Read ↗

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