Spinal muscular atrophy mutations in BICD2 alter protein interactions and dynein activity

Mutations in BICD2 linked to spinal muscular atrophy cause dynein hyperactivity and altered protein interactions. These mutations disrupt BICD2's function as a cargo adaptor, affecting how it interacts with other proteins and leading to overactive dynein motor proteins. The study investigated how these mutations impact BICD2's interactions, revealing complex changes that may contribute to the disease's pathogenesis.