Article
Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity.
Biochemistry - 16 Nov 1993
McCutchen S L, Colon W, Kelly J W
Abstract excerpt
A recently reported variant of human transthyretin (TTR), Leu-55-Pro, implicated as the causative agent in early-onset familial amyloid polyneuropathy was expressed and characterized, and its denaturation pathway and amyloidogenicity were compared to those of wild-type transthyretin. The overlap-extension polymerase chain reaction (PCR) methodology was used to introduce the Leu-55-Pro mutation into the...
Topics
- Amyloid
- Base Sequence
- DNA Primers
- Humans
- Hydrogen-Ion Concentration
- Leucine
- Molecular Sequence Data
- Mutation
- Prealbumin
- Proline