Therapeutic principles on protein misfolding diseases

点击翻译按钮获取中文摘要

Drug development for cystic fibrosis and familial amyloid polyneuropathy is still in progress. We found out the intracellular protein quality control mechanisms of ΔF508 CFTR, a major mutant of cystic fibrosis, and of transthyretin variants, resulting in proposal of new concept of drug development for familial amyloid polyneuropathy. In addition, we found that the endoplasmic reticulum-associated degradation of transthyretin variants is negatively regulated by BiP in mammalian cells.