Lipids in Health and Disease | |
2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase | |
关键词: Fatty acid hydroxylase; hydroxylated fatty acid sphingomyelin; autosomal recessive leukodystrophy; | |
DOI : 10.1186/1476-511X-10-84 | |
来源: DOAJ |
【 摘 要 】
Abstract
Fatty acid 2-hydroxylase (FA2H) is the enzyme responsible for the hydroxylation of free fatty acids prior to their incorporation into 2-hydroxylated sphingolipids, which are the major constituents of the myelin leaflet. Mutated FA2H has been associated with neurodegenerative diseases. Decreased FA2H activity was demonstrated only
【 授权许可】
Unknown