The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology,Biology of the Cell

当前位置： X-MOL 学术 › Biol. Cell › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology
Biology of the Cell ( IF 2.4 ) Pub Date : 2021-05-22 , DOI: 10.1111/boc.202000016
Favio Pesaola _{1,

2} , Gonzalo Quassollo ₂ , Ana Clara Venier _{1,

3} , Ana Lucía De Paul _{3,

4} , Ines Noher ₁ , Mariano Bisbal _{2,

5}

Affiliation

The endo-lysosomal system (ELS) comprises a set of membranous organelles responsible for transporting intracellular and extracellular components within cells. Defects in lysosomal proteins usually affect a large variety of processes and underlie many diseases, most of them with a strong neuronal impact. Mutations in the endoplasmic reticulum-resident CLN8 protein cause CLN8 disease. This condition is one of the 14 known neuronal ceroid lipofuscinoses (NCLs), a group of inherited diseases characterised by accumulation of lipofuscin-like pigments within lysosomes. Besides mediating the transport of soluble lysosomal proteins, recent research suggested a role for CLN8 in the transport of vesicles and lipids, and autophagy. However, the consequences of CLN8 deficiency on ELS structure and activity, as well as the potential impact on neuronal development, remain poorly characterised. Therefore, we performed CLN8 knockdown in neuronal and non-neuronal cell models to analyse structural, dynamic and functional changes in the ELS and to assess the impact of CLN8 deficiency on axodendritic development.

中文翻译：

神经元蜡样脂褐质沉积相关蛋白 CLN8 调节内溶酶体动力学和树突形态

内溶酶体系统 (ELS) 包括一组膜细胞器，负责在细胞内运输细胞内和细胞外成分。溶酶体蛋白的缺陷通常会影响多种过程，并且是许多疾病的基础，其中大多数具有强烈的神经元影响。内质网驻留 CLN8 蛋白的突变导致 CLN8 疾病。这种情况是 14 种已知的神经元蜡样脂褐质病 (NCL) 之一，这是一组以溶酶体内脂褐质样色素积累为特征的遗传性疾病。除了介导可溶性溶酶体蛋白的转运外，最近的研究表明 CLN8 在囊泡和脂质转运以及自噬中的作用。然而，CLN8 缺乏对 ELS 结构和活性的影响，以及对神经元发育的潜在影响，仍然很难表征。因此，我们在神经元和非神经元细胞模型中进行了 CLN8 敲低，以分析 ELS 的结构、动态和功能变化，并评估 CLN8 缺乏对轴突发育的影响。

更新日期：2021-05-22

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11