Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

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 unr...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2014
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4066527/
https://ncbi.nlm.nih.gov/pubmed/24889630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1408523111
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