Article
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
The Journal of biological chemistry - 25 Apr 1991
Cali J J, Hsieh C L, Francke U, Russell D W
Abstract excerpt
The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Deposition in other tissues causes tendon xanthomas, premature atherosclerosis, and cataracts. In two unrelated patients...
Topics
- Animals
- Bile Acids and Salts
- Blotting, Northern
- Blotting, Western
- Brain Diseases
- Cell Line
- Cholestanetriol 26-Monooxygenase
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Cytochrome P-450 Enzyme System