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The spinal muscular atrophy gene product regulates actin dynamics

21 Sept 2024

Abstract excerpt

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by low levels of the Survival of Motoneuron (SMN) protein. SMN interacts with and regulates the actin-binding protein profilin2a, thereby influencing actin dynamics. Dysfunctional actin dynamics caused by SMN loss disrupts neurite outgrowth, axonal pathfinding, and formation of functional synapses in neurons. Whether the SMN protein directly...

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PMID: 39305126
DOI: 10.1096/fj.202300183r

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