Mutations in the dynein cargo adaptor BICD2 have been linked to SMALED2 (Koboldt et al., 2020). Mutations in the heavy chain of the dynein motor have also been implicated in a version of this disorder (Chan et al., 2018; Das et al., 2018),…
Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity
