线粒体紊乱：破坏TANGO2中保守的N端基序会影响其定位和功能。
Mitochondrial mayhem: Disrupting conserved N-terminal motifs in TANGO2 impacts its localization and function.
作者信息
Sandkuhler Sarah E, Mackenzie Samuel J
机构信息
Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, NY, USA.
Department of Neurology, University of Rochester, Rochester, NY, USA.
出版信息
J Cell Biol. 2025 May 5;224(5). doi: 10.1083/jcb.202503010. Epub 2025 Apr 15.
Abstract
TANGO2 deficiency in humans leads to progressive neurological impairment, punctuated by life-threatening metabolic crises. In this issue, Lujan and colleagues demonstrate that TANGO2 localizes within the mitochondrial lumen and binds acyl-CoA species, potentially implicating it as a lipid trafficking protein.
摘要
人类TANGO2缺乏会导致进行性神经功能障碍，并伴有危及生命的代谢危机。在本期杂志中，卢扬及其同事证明，TANGO2定位于线粒体内腔并与酰基辅酶A结合，这可能表明它是一种脂质转运蛋白。
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本文引用的文献
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Using evolutionary data to make sense of macromolecules with a "face-lifted" ConSurf.利用进化数据，通过“改头换面”的 ConSurf 来理解大分子。
Protein Sci. 2023 Mar;32(3):e4582. doi: 10.1002/pro.4582.
2
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.20 例 TANGO2 缺乏症患者的临床和生物学特征表明存在新的代谢危机触发因素，而不存在原发性能量缺陷。
J Inherit Metab Dis. 2021 Mar;44(2):415-425. doi: 10.1002/jimd.12314. Epub 2020 Sep 28.
3
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.与 TANGO2 变异相关的表型可能是由该蛋白在 ER 到高尔基体运输和在线粒体中的双重作用所解释的。
J Inherit Metab Dis. 2021 Mar;44(2):426-437. doi: 10.1002/jimd.12312. Epub 2020 Sep 21.
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