Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.
Yoshikazu
Y
Uchida
Yunhi
Y
Cho
Sam
S
Moradian
Jungmin
J
Kim
Kimiko
K
Nakajima
Debra
D
Crumrine
Kyungho
K
Park
Mayumi
M
Ujihara
Masashi
M
Akiyama
Hiroshi
H
Shimizu
Walter M
WM
Holleran
Shigetoshi
S
Sano
Peter M
PM
Elias
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