Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 111, Issue 24, Pages 8901-8906
Publisher
Proceedings of the National Academy of Sciences
Online
2014-06-03
DOI
10.1073/pnas.1408523111
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
- (2014) Guilherme L. Yamamoto et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
- (2014) Julie Hoover-Fong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Brief History of Choline
- (2012) Steven H. Zeisel ANNALS OF NUTRITION AND METABOLISM
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- Nonalcoholic Fatty Liver Disease: Pathologic Patterns and Biopsy Evaluation in Clinical Research
- (2012) David Kleiner et al. SEMINARS IN LIVER DISEASE
- A Conserved SREBP-1/Phosphatidylcholine Feedback Circuit Regulates Lipogenesis in Metazoans
- (2011) Amy K. Walker et al. CELL
- Phosphatidylcholine Synthesis for Lipid Droplet Expansion Is Mediated by Localized Activation of CTP:Phosphocholine Cytidylyltransferase
- (2011) Natalie Krahmer et al. Cell Metabolism
- Genetic Syndromes of Severe Insulin Resistance
- (2011) Robert K. Semple et al. ENDOCRINE REVIEWS
- Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
- (2011) Sheetal Gandotra et al. NEW ENGLAND JOURNAL OF MEDICINE
- The Kennedy pathway-De novo synthesis of phosphatidylethanolamine and phosphatidylcholine
- (2010) Federica Gibellini et al. IUBMB LIFE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation inCIDEC
- (2009) Oscar Rubio-Cabezas et al. EMBO Molecular Medicine
- Crystal Structure of a Mammalian CTP: Phosphocholine Cytidylyltransferase Catalytic Domain Reveals Novel Active Site Residues within a Highly Conserved Nucleotidyltransferase Fold
- (2009) Jaeyong Lee et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Laminopathies and the long strange trip from basic cell biology to therapy
- (2009) Howard J. Worman et al. JOURNAL OF CLINICAL INVESTIGATION
- Physiological consequences of disruption of mammalian phospholipid biosynthetic genes
- (2008) Dennis E. Vance et al. JOURNAL OF LIPID RESEARCH
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now