Stephanie E. Vargas Abonce

Computational identification and experimental validation of early glycinergic impairments in spinal muscular atrophy

Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disorder characterized by lower motor neuron (MN) loss, due to mutations or deletions in the Survival Motor Neuron 1 ( SMN1 ) gene. Increasing evidence implies mitochondrial dysfunctions in SMA, suggesting these org...