Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency
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Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41574-023-00950-0.pdf
Reference10 articles.
1. Peters, J. M. et al. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nat. Genet. 18, 292–295 (1998).
2. Brown, R. J. et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J. Clin. Endocrinol. Metab. 101, 4500–4511 (2016).
3. Schuermans, N. et al. Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling. Nat. Genet. 55, 1929–1940 (2023).
4. Mardian, E. B., Bradley, R. M. & Duncan, R. E. The HRASLS (PLA/AT) subfamily of enzymes. J. Biomed. Sci. 22, 99 (2015).
5. Agarwal, A. K. et al. Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice. J. Biol. Chem. 286, 37676–37691 (2011).
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