The Structural and Dynamic Insights into the Ala97Ser Amyloidogenic Mutation in Transthyretin.

Abstract excerpt

Transthyretin (TTR), a homo-tetrameric protein encoded by the TTR gene, can lead to amyloid diseases when destabilized by mutations. The TTR-Ala97Ser (A97S) mutation is the predominant pathogenic variant found in Han-Taiwanese patients and is associated with late-onset familial amyloid polyneuropathy (FAP), which presents a rapid progression of symptoms affecting peripheral nerves and the heart. In this study, we...

Topics

• Prealbumin
• Humans
• Crystallography, X-Ray
• Mutation
• Hydrogen Bonding
• Amyloid