Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.

ABSTRACT: Autosomal dominant missense mutations in BICD2 cause Spinal Muscular Atrophy Lower Extremity Predominant 2 (SMALED2), a developmental disease of motor neurons. BICD2 is a key component of the cytoplasmic dynein/dynactin motor complex, which in axons drives the microtubule-dependent retrograde transport of intracellular cargo towards the cell soma. Patients with pathological mutations in BICD2 develop malformations of cortical and cerebellar development similar to Bicd2 knockout (-/-) mice. In this study we sought to re-examine the motor neuron phenotype of conditional Bicd2^-/- mice. Bicd2^-/- mice show a significant reduction in the number of large calibre motor neurons of the L4 ventral root compared to wild type mice. Muscle-specific knockout of Bicd2 results in a si

SUBMITTER: Rossor AM 

PROVIDER: S-EPMC7076953 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature