Unraveling CMT1A: Models, Mechanisms, and Therapeutic Approaches

Abstract

This work focuses on advancing fundamental research in CMT1A. Addressing the lack of available treatments for this disease, this thesis has three primary aims: developing novel human-based in vitro models, unraveling the underlying mechanisms of PMP22 gene overexpression in Schwann cells at a lysosomal level, and exploring the potential of rebalancing cAMP levels to alleviate the CMT1A phenotype (Fig. 1-4).