Topic: Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is an almost selective motoneuron (MN) neurodegenerative disease in which the factors determining preferential involvement of MN are yet to be fully understood. TDP-43 nuclear clearance and aggregates are identified as a major component of the ubiquitinated neuronal cytoplasmic inclusions deposited in spinal motor neurons both in familiar and sALS patients. Since TDP43 protein contains the HSC70 recognition motif, and, therefore, chaperon mediated autophagy (CMA) function may represent a cellular mechanism to regulate TDP43 cytoplasmic turnover in cells. We

Fused in Sarcoma (FUS), Ewing Sarcoma (EWSR1) and TATA-Box Binding Protein Associated Factor 15 (TAF15) are conserved RNA binding proteins that make up the FET family. In Amyotrophic Lateral Sclerosis (ALS), mutations in FUS lead to its cytoplasmic mislocalisation and the formation of cytoplasmic inclusion in neurons. However, in Frontotemporal Dementia (FTD), inclusions are made up of all three FET proteins along with their nuclear import receptor TNPO1 in the absence of any mutation.This project aims to characterise the spatio-temporal expression of the FET proteins in the central nervous sy

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease inexorably leading to premature death. Sleep disturbances have been ascribed to respiratory insufficiency, muscle cramps, spasticity, or restless legs syndrome, all leading to increased wakefulness. However, a recent neuropathological study in ALS patients described a loss of orexin-producing neurons, a neuropeptide involved in sleep and metabolic regulation, undermining the idea that sleep alterations are linked to central and peripheral changes. Yet, sleep alterations are poorly characterized in ALS, and their rela