Michael E. Shy

This study shows that activating XBP1s reduces disease severity in CMT1B models by mitigating ER stress and mutant protein toxicity in Schwann cells.

This study identifies the molecular interaction between PMP22 and MPZ through their transmembrane domains and shows how disrupting this interaction causes a loss-of-function phenotype in hereditary neuropathy.

The paper investigates the structural context of homomeric interactions in the Ig domain of MPZ and their relation to CMT disease phenotypes using NMR and SAXS analysis.

The paper demonstrates that neuropathy-associated AARS1 mutations exhibit dominant-negative effects by reducing yeast growth when co-expressed with wild-type AARS1.

This study shows that IFB-088 treatment improves neuropathy in two mouse models of CMT1B and CMT1A by reducing ER-stress and enhancing protein homeostasis.