Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable5
PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.
Wang K et al.
Bmc Biology, 2024
Genetic diseases of the Kennedy pathways for membrane synthesis.
Tavasoli M et al.
The Journal of Biological Chemistry, 2020
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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