Although autism spectrum disorders (ASDs) are highly prevalent, the neural circuitry underlying ASDs remains poorly understood. The cerebellum has been implicated in autism based on human studies, but mouse models that rigorously demonstrate a role for cerebellar dysfunction leading to core features of autism are lacking.
Autophagy is a catabolic process for the removal of damaged organelles and energy retrieval in which cytoplasmic material and damaged organelles are engulfed in double membrane vesicles and delivered to the lysosomes for degradation.
Spinal muscular atrophy (SMA) is a devastating motor neuron disease caused by mutations in the SMN1 gene. Reduced levels of SMN protein impair various aspects of neuronal development, particularly axonal growth.