Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy

Shijing Wu; Sin Man Lam; Huajin Li; Binhua Jiang; Zixi Sun; Tian Zhu; Xing Wei; Xuan Zou; Guanghou Shui; Ruifang Sui

doi:10.1016/j.jgg.2021.10.003

Volume 49 Issue 4

Apr. 2022

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Article Navigation > Journal of Genetics and Genomics > 2022 > 49(4): 380-383

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Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy

doi: 10.1016/j.jgg.2021.10.003

1. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;
2. State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;
3. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;
4. Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350004, China;
5. LipidALL Technologies Company Limited, Changzhou, Jiangsu 213022, China;
6. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;
7. State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;
8. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China

Funds:

The authors thank the patients who participated in the study. This work was supported by the National Natural Science Foundation of China (81873687), the Beijing Natural Science Foundation (7212071), the Fundamental Research Funds for the Central Universities (3332020015), and Youth Program of Peking Union Medical College Hospital (pumch201911263).

Received Date: 2021-09-29
Publish Date: 2022-04-30

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References

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