Article

Non-muscle actinopathy-associated loss-of-function actin variants modulate cytoskeletal reorganization

2026-02-16

Abstract excerpt

<h4>ABSTRACT</h4> Variants in ACTB gene encoding for cytoplasmic β-actin result in a group of rare disorders called non-muscle actinopathies (NMA). We investigated the cellular effects of a missense variant, G302A, and a four-amino-acid deletion, S338-I341, associated with the subgroup of NMA – ACTB pLoF (predicted loss-of-function) disorder in patient-derived fibroblast cells. We found that neither of the mutati...

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Literature Corpus work: 93b7d938-393f-583f-b70c-bbb25592cf20
DOI: 10.64898/2026.02.13.705838

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