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<i>NF2</i> lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency on <i>NF2</i> -SWN iPSC-derived spheroid model

2025-11-14

Abstract excerpt

NF2 -related Schwannomatosis ( NF2 -SWN) is an inherited autosomal dominant disorder resulting from loss-of-function mutations in the NF2 gene, for which no effective treatment is currently available. Furthermore, truncating variants in NF2 are associated with the severest phenotype compared to in-frame or missense variants. Previously, a shorter NF2 isoform with exon 11 skipped (merlin_e-11), induced through...

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Literature Corpus work
0f100e79-8a2d-5613-8ec8-cea73ff9220a
DOI
10.1101/2025.11.14.688164
Open publication

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<i>NF2</i> lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency on <i>NF2</i> -SWN iPSC-derived spheroid modelDOI 10.1101/2025.11.14.688164
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