Classification of human actin pathological variants usingC. elegansCRISPR-generated models
Théo Hecquet,
Nadine Arbogast,
Delphine Suhner
et al.
Abstract:Actin plays a crucial role in diverse physiological processes via the formation of dynamic networks that determine cellular shape and mechanical properties.De novovariants in cytoskeletal β- and γ-actin, encoded by humanACTBandACTG1genes, lead to a wide range of rare diseases, termed Non-Muscle Actinopathies (NMA). Variants include missense, frameshift, truncating variants up to whole gene deletions and induce diverse symptoms. So far, the high clinical variability and genotype-phenotype correlations in NMA re… Show more
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