Article
Analysis of the lysosomal storage disease Chediak-Higashi syndrome.
Traffic (Copenhagen, Denmark) - 1 Nov 2000
Ward D M, Griffiths G M, Stinchcombe J C, Kaplan J
Abstract excerpt
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in all species identified, permitting a positional cloning approach using the mouse model beige to identify the responsible gene. The CHS gene was cloned and mutations identified in affected species. This review discusses the clinical...
Topics
- Animals
- Chediak-Higashi Syndrome
- Humans
- Intracellular Signaling Peptides and Proteins
- Lipid Metabolism
- Lysosomes
- Mice
- Mice, Mutant Strains
- Mutation
- Proteins
- Signal Transduction
- T-Lymphocytes, Cytotoxic
- Vesicular Transport Proteins