Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy...
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
About this item
Full title
Author / Creator
Payne, Felicity , Lim, Koini , Girousse, Amandine , Brown, Rebecca J. , Kory, Nora , Robbins, Ann , Xue, Yali , Sleigh, Alison , Cochran, Elaine , Adams, Claire , Borman, Arundhati Dev , Russel-Jones, David , Gorden, Phillip , Semple, Robert K. , Saudek, Vladimir , O'Rahilly, Stephen , Walther, Tobias C. , Barroso, Inês and Savage, David B.
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
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 pathwa...
Alternative Titles
Full title
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
Authors, Artists and Contributors
Author / Creator
Lim, Koini
Girousse, Amandine
Brown, Rebecca J.
Kory, Nora
Robbins, Ann
Xue, Yali
Sleigh, Alison
Cochran, Elaine
Adams, Claire
Borman, Arundhati Dev
Russel-Jones, David
Gorden, Phillip
Semple, Robert K.
Saudek, Vladimir
O'Rahilly, Stephen
Walther, Tobias C.
Barroso, Inês
Savage, David B.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1540586267
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1540586267
Other Identifiers
ISSN
0027-8424,1091-6490
E-ISSN
1091-6490
DOI
10.1073/pnas.1408523111
