Maurizio D’Antonio

This study shows that deleting Sarm1 reduces axonal degeneration in a CMT2J mouse model, but does not fully prevent disease progression.

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

The paper develops a P0T124M mouse model of CMT2J neuropathy, showing axonal damage without significant myelin defects and altered axo-glia communication.

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.

This study shows polyglutamine-expanded androgen receptor disrupts muscle function by altering calcium dynamics and excitation-contraction coupling gene expression, which can be reversed by treatment.

This study shows that increasing neuregulin 1 type III in neurons improves myelination in a mouse model of congenital hypomyelinating neuropathy without relying on Egr2 or typical myelin genes.

This study shows that enhancing Nrg1TIII signaling reduces disease severity in a CMT1B mouse model by rebalancing myelin lipids and proteins, not through myelin gene upregulation.