|
| FA2H-siRNA in cultured human keratinocytes suppressed 2-hydroxylase activity and decreased 2-hydroxyceramide/2-hydroxyglucosylceramide levels in keratinocytes and contained abnormal epidermal lamellar bodies and did not form the normal extracellular lamellar membranes  | |
FA2H-deficient (FA2H(-/-)) mice lacked 2-hydroxylated sphingolipids in the brain and in peripheral nerves while nonhydroxylated galactosylceramide is increased |
|
18-month-old FA2H(-/-) mice, however, exhibited scattered axonal and myelin sheath degeneration in the spinal cord and an even more pronounced loss of stainability of myelin sheaths in sciatic nerves |