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Article

AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Nov 2023

Georgiou Elena, Kagiava Alexia, Sargiannidou Irene, Schiza Natasa, Stavrou Marina, Richter Jan, Tryfonos Christina, Heslegrave Amanda, Zetterberg Henrik, Christodoulou Christina, Kleopa Kleopas A

Abstract excerpt

Type 4C Charcot-Marie-Tooth (CMT4C) demyelinating neuropathy is caused by autosomal recessive SH3TC2 gene mutations. SH3TC2 is highly expressed in myelinating Schwann cells. CMT4C is a childhood-onset progressive disease without effective treatment. Here, we generated a gene therapy for CMT4C mediated by an adeno-associated viral 9 vector (AAV9) to deliver the human SH3TC2 gene in the Sh3tc2-/- mouse model of...

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Identifiers

PMID: 37641403
DOI: 10.1016/j.ymthe.2023.08.020
PMCID: PMC10638072

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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