Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.
Uchida
Yoshikazu
Y
Cho
Yunhi
Y
Moradian
Sam
S
Kim
Jungmin
J
Nakajima
Kimiko
K
Crumrine
Debra
D
Park
Kyungho
K
Ujihara
Mayumi
M
Akiyama
Masashi
M
Shimizu
Hiroshi
H
Holleran
Walter M
WM
Sano
Shigetoshi
S
Elias
Peter M
PM
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics* / Q000378:metabolism; D002518:Ceramides / Q000172:deficiency*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000378:metabolism*; D050356:Lipid Metabolism / Q000502:physiology*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome
D002518:Ceramides; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human