Article
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
Science (New York, N.Y.) - 20 Aug 1993
Deng H X, Hentati A, Tainer J A, Iqbal Z, Cayabyab A, Hung W Y, Getzoff E D, Hu P, Herzfeldt B, Roos R P
Abstract excerpt
Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS). Complete screening of the SOD1 coding region revealed that the mutation Ala4 to Val in exon 1 was the most frequent on...
Topics
- Amino Acid Sequence
- Amyotrophic Lateral Sclerosis
- Base Sequence
- Binding Sites
- Erythrocytes
- Exons
- Free Radicals
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Protein Folding
- Protein Structure, Tertiary
- Superoxide Dismutase
- X-Ray Diffraction