Article
Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease.
Biochemistry - 17 Oct 1995
McCutchen S L, Lai Z, Miroy G J, Kelly J W, Colón W
Abstract excerpt
The role that transthyretin (TTR) mutations play in the amyloid disease familial amyloid polyneuropathy (FAP) has been probed by comparing the biophysical properties of several TTR variants as a function of pH. We have previously demonstrated that the partial acid denaturation of TTR is sufficien...
Topics
- Amino Acid Sequence
- Amyloidosis
- Base Sequence
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Genes, Lethal
- Genetic Variation
- Humans
- Hydrogen-Ion Concentration
- Kinetics
- Leucine
- Lysosomes
- Macromolecular Substances
- Models, Molecular
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Point Mutation
- Prealbumin