Impact of FUS and NUP-50 mutations in the onset and progression of ALS and FTD

We are interested in the impact of variants and mutations in FUS and NUP-50 genes associated with ALS and DFT, which are responsible for motor and cognitive impairment associated with these two diseases. To better understand what happens at the body level when patients carry these variants/mutations, we developed models that allow us to induce mutations, or conversely, to restore the normal form of the protein, in specific cell subtypes. These models are complete but also complex and allow us to study the evolution of physiological and behavioral alterations during the development of SLA/DFT pathology. In parallel to these models, we developed pluripotent stem cells (derived from patient fibroblasts) which we differentiate into motor neurons in order to study more finely the molecular alterations in cellular models relevant for ALS. The aim of our research is to elucidate the pathological mechanisms that are at the origin of ALS/DFT in order to develop therapeutic strategies.

Geoffrey Stuart-Lopez, technical engineer

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