Article

LNA gapmers targeting mutant TNPO3 partially restore molecular and cellular defects in LGMDD2 muscle cells

2026-07-03

Abstract excerpt

<title>Abstract</title> <p> Limb-girdle muscular dystrophy type D2 (LGMDD2) is a rare autosomal dominant myopathy caused by a frameshift mutation in TNPO3, a nuclear import receptor essential for RNA splicing regulation. Because the disease is driven by expression of a pathogenic mutant protein, reducing mutant TNPO3 levels represents a rational therapeutic strategy. Here, we evaluated LNA-modified antisense gap...

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Literature Corpus work: 36f0c8af-3c87-5717-93c3-19b9f830d4da
DOI: 10.21203/rs.3.rs-9997166/v1

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