Article
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.
The Biochemical journal - 15 May 1998
Nicolas G, Pedroni S, Fournier C, Gautero H, Craescu C, Dhermy D, Lecomte M C
Abstract excerpt
Most of hereditary elliptocytosis (HE) cases are related to a spectrin dimer (SpD) self-association defect. The severity of haemolysis is correlated with the extent of the SpD self-association defect, which itself depends on the location of the mutation regarding the tetramerization site. This si...
Topics
- Binding Sites
- Circular Dichroism
- Dimerization
- Elliptocytosis, Hereditary
- Erythrocytes
- Humans
- Mutagenesis, Site-Directed
- Mutation
- Peptide Fragments
- Protein Binding
- Protein Structure, Secondary
- Recombinant Proteins
- Spectrin