Proteomics ePosters

The functioning of a synapse depends on its accessibility to proteins and, thus, on the localization of protein sources along the dendrite (Westenbroek 2009, Vacher et al. 2008). Therefore, the behaviour of the synapse highly depends on the availability of proteins and ion channels and any perturbation in the…

Arginase 2 (Arg2), an arginine-metabolizing, mitochondrial enzyme, has been recently found to be enriched in the striatum, and progressive loss of Arg2 has been proposed as a potential factor contributing to the pathogenesis of Huntington’s disease (HD), a disorder primarily involving this region of the brain.…

Alzheimer’s Disease (AD) is a progressive neurological disorder that gradually deteriorates cognitive abilities and leads to the inability to carry out simple tasks. However, the molecular mechanisms and causes of this disease are still unclear. This research aims to use the proteomic signature of the 5xFAD AD mouse…

Presenilin1 (PSEN1) E280A mutation causes early onset Alzheimer’s disease (AD) in the world’s largest familial AD kindred. We previously published a case report of a carrier from this kindred who was remarkably protected from cognitive decline for thirty years. Positron emission tomography (PET) brain analysis showed…

Mutations in Adenosine deaminase acting on RNA (ADAR1) give rise to Aicardi-Goutières syndrome 6 (AGS6) a severe autoimmune disease characterized by inflammatory encephalopathy that presents within the first year of life. Some of the signs of AGS6 are microcephaly, calcifications in basal ganglia and other brain…