The role of TRPMLs in endolysosomal trafficking and function.
The role of TRPMLs in endolysosomal trafficking and function.
复制标题
DOI：
10.1016/j.ceca.2014.10.008
复制
发表时间：
2015-07
期刊：
影响因子：
4
通讯作者：
Zhu MX
中科院分区：
文献类型：
--
作者：
Venkatachalam K;Wong CO;Zhu MX
瞬时受体势粘蛋白(TRPML)是一类进化上保守的阳离子通道，主要存在于溶酶体内囊泡中。虽然人类TRPML1功能丧失突变首次被确定为引起溶酶体储存病，即IV型粘脂沉积症，但大多数哺乳动物也表达另外两种TRPML亚型，即TRPML2和TRPML3。所有这三种哺乳动物的TRPML以及包括线虫和果蝇在内的其他物种的TRPML相关基因都显示出重叠的功能和生物物理特性。TRPML蛋白的功能包括在囊泡运输和生物发生中的作用，维持神经元的发育、功能和活力，以及调节细胞内和细胞器内的离子稳态。在生物物理学上，TRPML通道是一种非选择性的阳离子通道，对包括Na+、Ca~(2+)、Fe~(2+)和Zn~(2+)在内的多种阳离子表现出可变的通透性，并被一种主要存在于溶酶体膜上的磷脂酰肌醇PI(3，5)P2激活。在这里，我们回顾了这些神秘的阳离子通道的功能和生物物理特性，它们代表了最古老和典型的Trp通道。
Members of the Transient Receptor Potential-Mucolipin (TRPML) constitute a family of evolutionarily conserved cation channels that function predominantly in endolysosomal vesicles. Whereas loss-of-function mutations in human TRPML1 were first identified as being causative for the lysosomal storage disease, Mucolipidosis type IV, most mammals also express two other TRPML isoforms called TRPML2 and TRPML3. All three mammalian TRPMLs as well as TRPML related genes in other species including C. elegans and Drosophila exhibit overlapping functional and biophysical properties. The functions of TRPML proteins include roles in vesicular trafficking and biogenesis, maintenance of neuronal development, function, and viability, and regulation of intracellular and organellar ionic homeostasis. Biophysically, TRPML channels are non-selective cation channels exhibiting variable permeability to a host of cations including Na+, Ca2+, Fe2+, and Zn2+, and are activated by a phosphoinositide species, PI(3,5)P2, that is mostly found in endolysosomal membranes. Here, we review the functional and biophysical properties of these enigmatic cation channels, which represent the most ancient and archetypical TRP channels.
登录
查看更多内容
影响因子：
5
作者：
Bach, G;Chen, CS;Pagano, RE
通讯作者：
Pagano, RE
影响因子：
5
作者：
BARGAL, R;BACH, G
通讯作者：
BACH, G
影响因子：
4.2
作者：
BARGAL, R;BACH, G
通讯作者：
BACH, G
DOI：
10.1002/ajmg.1320410310
发表时间：
1991-12-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CHITAYAT, D;MEUNIER, CM;CARPENTER, S
通讯作者：
CARPENTER, S
影响因子：
--
作者：
Campbell EM;Fares H
通讯作者：
Fares H