Article
Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria.
Proceedings of the National Academy of Sciences of the United States of America - 2 May 2006
Deng Han-Xiang, Shi Yong, Furukawa Yoshiaki, Zhai Hong, Fu Ronggen, Liu Erdong, Gorrie George H, Khan Mohammad S, Hung Wu-Yen, Bigio Eileen H, Lukas Thomas, Dal Canto Mauro C, O'Halloran Thomas V, Siddique Teepu
Abstract excerpt
Twenty percent of the familial form of amyotrophic lateral sclerosis (ALS) is caused by mutations in the Cu, Zn-superoxide dismutase gene (SOD1) through the gain of a toxic function. The nature of this toxic function of mutant SOD1 has remained largely unknown. Here we show that WT SOD1 not only hastens onset of the ALS phenotype but can also convert an unaffected phenotype to an ALS phenotype in mutant SOD1...
Topics
- Amyotrophic Lateral Sclerosis
- Animals
- Humans
- Mice
- Mice, Transgenic
- Mitochondria
- Mutation
- Phenotype
- Protein Conformation
- Spinal Cord