Ontology highlight
ABSTRACT:
SUBMITTER: James CN
PROVIDER: S-EPMC2955100 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
James Christopher N CN Horn Patrick J PJ Case Charlene R CR Gidda Satinder K SK Zhang Daiyuan D Mullen Robert T RT Dyer John M JM Anderson Richard G W RG Chapman Kent D KD
Proceedings of the National Academy of Sciences of the United States of America 20100927 41
CGI-58 is the defective gene in the human neutral lipid storage disease called Chanarin-Dorfman syndrome. This disorder causes intracellular lipid droplets to accumulate in nonadipose tissues, such as skin and blood cells. Here, disruption of the homologous CGI-58 gene in Arabidopsis thaliana resulted in the accumulation of neutral lipid droplets in mature leaves. Mass spectroscopy of isolated lipid droplets from cgi-58 loss-of-function mutants showed they contain triacylglycerols with common le ...[more]