Neuronal Signalling Unit

The Neuronal Signalling Unit is a research group specialised in the study of the survival of motor neurons and the pathologies associated with the degeneration of these cells. The main focus of study is the molecular mechanisms involved in the loss of motor neuron function and the identification of new therapeutic targets in the context of Spinal Muscular Atrophy (SMA). SMA is a childhood neuromuscular disease of genetic origin characterised by the loss of motor neurons in the spinal cord due to mutation of the SMN1 (Survival Motor Neuron) gene. The SMN1 gene encodes a protein called SMN, the reduction of which causes muscle weakness, atrophy and paralysis through partially identified intracellular alterations. Recently developed therapies aim to increase SMN protein levels in cells. However, there is a percentage of patients who do not respond to such treatment. For this reason, a deeper understanding of the molecular mechanisms that take place during the development and evolution of the disease will allow the identification of new therapies that, together with the existing ones, will broaden the treatment opportunities for SMA patients.