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Multiscale characterization of <i>Caenorhabditis elegans</i> mutants to probe functional mechanisms of human actin pathological variants

2024-07-22

Abstract excerpt

<h4>SUMMARY</h4> Actin plays a crucial role in diverse physiological processes by forming dynamic networks that determine cellular shape and mechanical properties. Non-Muscle Actinopathies (NMA) are rare diseases caused by de novo variants in human cytoskeletal β-actin ( ACTB ) and γ-actin ( ACTG1 ) genes, ranging from missense mutations to whole gene deletions. Currently, the high clinical variability and gen...

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Literature Corpus work
86235b9f-aa47-54ea-ae79-81049748fc53
DOI
10.1101/2024.07.22.604239
Open publication

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