Visions & Reflections (Minireview)

Cellular and Molecular Life Sciences

, Volume 65, Issue 3, pp 351-353

First online:

Chemical chaperone therapy for GM1-gangliosidosis

  • Y. SuzukiAffiliated withInternational University of Health and Welfare Graduate School Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access


We have proposed a chemical chaperone therapy for lysosomal diseases, based on a paradoxical phenomenon that an exogenous competitive inhibitor of low molecular weight stabilizes the target mutant molecule and restores its catalytic activity as a molecular chaperone intracellularly. After Fabry disease experiments, we investigated a new synthetic chaperone compound N-octyl-4-epi-β-valienamine (NOEV) in a GM1-gangliosidosis model mice. Orally administered NOEV entered the brain through the blood-brain barrier, enhanced β-galactosidase activity, reduced the substrate storage, and clinically improved neurological deterioration. We hope that chemical chaperone therapy will prove useful for some patients with GM1-gangliosidosis and potentially other lysosomal storage diseases with central nervous system involvement.


Chemical chaperone therapy GM1-gangliosidosis β-galactosidase N-octyl-4-epi-β-valienamine neurogenetic disease