Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency,Nature Reviews Endocrinology

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Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency
Nature Reviews Endocrinology ( IF 31.0 ) Pub Date : 2024-01-08 , DOI: 10.1038/s41574-023-00950-0
Anil K Agarwal ₁ , Abhimanyu Garg ₁

Affiliation

Schuermans et al. report phospholipase A and acyltransferase 3 (PLAAT3) deficiency in patients with lipodystrophy and peripheral neuropathy. Their discovery adds to the growing list of genetic lipodystrophies due to deficiencies of enzymes involved in phospholipid biosynthesis, including 1-acylglycerol-3-phosphate O-acyltransferase 2 and choline phosphate cytidylyltransferase 1 A.

中文翻译：

磷脂生物合成途径和脂肪营养不良：PLAAT3 缺乏引起的一种新综合征

舒尔曼斯等人。报告脂肪营养不良和周围神经病变患者存在磷脂酶 A 和酰基转移酶 3 (PLAAT3) 缺乏症。他们的发现增加了由于参与磷脂生物合成的酶缺乏而导致的遗传性脂肪营养不良的名单，这些酶包括 1-酰基甘油-3-磷酸 O-酰基转移酶 2 和磷酸胆碱胞苷酰转移酶 1 A。

更新日期：2024-01-08

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