Article
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Proceedings of the National Academy of Sciences of the United States of America - 17 Jun 2014
Payne Felicity, Lim Koini, Girousse Amandine, Brown Rebecca J, Kory Nora, Robbins Ann, Xue Yali, Sleigh Alison, Cochran Elaine, Adams Claire, Dev Borman Arundhati, Russel-Jones David, Gorden Phillip, Semple Robert K, Saudek Vladimir, O'Rahilly Stephen, Walther Tobias C, Barroso Inês, Savage David B
Abstract excerpt
Phosphatidylcholine (PC) is the major glycerophospholipid in eukaryotic cells and is an essential component in all cellular membranes. The biochemistry of de novo PC synthesis by the Kennedy pathway is well established, but less is known about the physiological functions of PC. We identified two unrelated patients with defects in the Kennedy pathway due to biallellic loss-of-function mutations in phosphate...
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