Associated Papers
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.
Cornell RB et al.
The Journal of Biological Chemistry, 2019
Evaluation of human dermal fibroblasts directly reprogrammed to adipocyte-like cells as a metabolic disease model.
Chen JH et al.
Disease Models & Mechanisms, 2017
28982679 (PubMed )
Supplement: dmm-10-030981-s1.pdf
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F et al.
European Journal of Human Genetics : Ejhg, 2017
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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