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Article

TGFBI R124H mutant allele silencing in granular corneal dystrophy type 2 using topical siRNA delivery.

Journal of controlled release : official journal of the Controlled Release Society - 10 Jun 2025

McLain Andrew, Kowalczyk Amanda, Baran-Rachwalska Paulina, Sutera Flavia Maria, Robertson Louise J, Nielsen Nadia Sukusu, Enghild Jan J, Cobice Diego, Bonelli Filippo, Barbaro Vanessa, Ferrari Stefano, Patterson Benjamin, Moore Luca, Marshall John, Nesbit M Andrew, Moore Tara

Abstract excerpt

In recent years, success has been achieved in treating several eye conditions with oligonucleotide-based therapies. Herein, we outline the experimentation involved in progressing selection and development of a lead therapeutic siRNA for R124H mutation of TGFBI gene which causes Granular Corneal Dystrophy Type 2 (GCD2/Avellino CD). Firstly, a series of siRNA designs, generated by a gene walk across the R124H TGFBI...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40185334
DOI: 10.1016/j.jconrel.2025.113681

Genes

TGFBI

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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