Article
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease.
Proceedings of the National Academy of Sciences of the United States of America - 27 Dec 2011
Lu Jie, Yang Chunzhang, Chen Masako, Ye Donald Y, Lonser Russell R, Brady Roscoe O, Zhuang Zhengping
Abstract excerpt
Gaucher disease (GD) is caused by a spectrum of genetic mutations within the gene encoding the lysosomal enzyme glucocerebrosidase (GCase). These mutations often lead to misfolded proteins that are recognized by the unfolded protein response system and are degraded through the ubiquitin-proteasome pathway. Modulating this pathway with histone deacetylase inhibitors (HDACis) has been shown to improve protein...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.