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Article

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

Human molecular genetics - 1 May 2017

Kyriakoudi Styliana, Sargiannidou Irene, Kagiava Alexia, Olympiou Margarita, Kleopa Kleopas A

Abstract excerpt

Numerous GJB1 gene mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X). GJB1 encodes connexin32 (Cx32), which forms trans-myelin gap junctions in Schwann cells. Most GJB1 mutations result in loss-of-function mechanisms, supporting the concept of gene replacement therapy. However, interactions between delivered wild type and endogenously expressed mutant Cx32 may potentially occur in the...

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Source

Identifiers

PMID: 28334782
DOI: 10.1093/hmg/ddx064

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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