Article
Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome.
Journal of cellular physiology - 1 Apr 1992
Santos M J, Hoefler S, Moser A B, Moser H W, Lazarow P B
Abstract excerpt
Empty membrane ghosts of peroxisomes were found in fibroblasts from a patient with Zellweger's syndrome, a genetic disease of humans (Santos et al: Science 239:1536-1538, 1988). Import of soluble matrix proteins into the organelle was defective. We have now studied fibroblasts from seven patients representing five complementation groups of the syndrome (defined by complementation for peroxisome enzyme function)....
Topics
- Catalase
- Cell Membrane
- Cells, Cultured
- Fibroblasts
- Fluorescent Antibody Technique
- Humans
- Microbodies
- Mutation
- Organelles
- Zellweger Syndrome