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

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