Protein misfolding in Charcot-Marie-Tooth disease type 1A: opening the gates for cathepsin B and peripheral nerve demyelination. Hasselt University
This project describes a novel target in the pathology Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the PMP22 gene. CMT1A is a disease of peripheral nerve demyelination, with an altered Schwann cell phenotype and significant changes in the extracellular matrix, the endoneurium. In CMT1A Schwann cells, high levels of misfolded PMP22 aggregates have been observed in association with lysosomes. I aim to show that this ...