线粒体胆碱转运体SLC25A48调节人类尿液和血液胆碱水平。

IF 12.6 1区医学 Q1 UROLOGY & NEPHROLOGY Kidney international Pub Date : 2025-02-01 Epub Date: 2025-01-21 DOI:10.1016/j.kint.2024.11.014

Soumya Maity , Kumar Sharma

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引用次数: 0

摘要

胆碱是哺乳动物合成磷脂和神经递质所必需的营养物质，并控制着多种生理功能。它在细胞内的细胞器中代谢，包括线粒体。然而，其亚细胞分布和线粒体运输方式仍然知之甚少。Patil等人发现SLC25A48是一种线粒体胆碱转运蛋白，其功能缺失突变与人类尿液和血浆胆碱水平升高有关。

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The mitochondrial choline transporter, SLC25A48, regulates urine and blood choline levels in humans

Choline is an essential nutrient for the biosynthesis of phospholipids and neurotransmitters and controls several physiological functions in mammals. It is metabolized in the organelles within cells, including mitochondria. However, its subcellular distribution and mode of mitochondrial transport remain poorly understood. Patil et al. identified SLC25A48 as a mitochondrial choline transporter, and its loss-of-function mutations were associated with elevated urine and plasma choline levels in humans.

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来源期刊

Kidney international 医学-泌尿学与肾脏学

CiteScore

23.30

自引率

3.10%

发文量

490

审稿时长

3-6 weeks

期刊介绍： Kidney International (KI), the official journal of the International Society of Nephrology, is led by Dr. Pierre Ronco (Paris, France) and stands as one of nephrology's most cited and esteemed publications worldwide. KI provides exceptional benefits for both readers and authors, featuring highly cited original articles, focused reviews, cutting-edge imaging techniques, and lively discussions on controversial topics. The journal is dedicated to kidney research, serving researchers, clinical investigators, and practicing nephrologists.