Maeda Miharu, Arakawa Masashi, Saito Kota
Department of Biological Informatics and Experimental Therapeutics, Graduate School of Medicine, Akita University, Akita, Japan.
Traffic. 2025 Jan-Mar;26(1-3):e70001. doi: 10.1111/tra.70001.
The endoplasmic reticulum (ER)-Golgi interface is essential for directing the transport of proteins synthesized in the ER to the Golgi apparatus via the ER-Golgi intermediate compartment, as well as for recycling proteins back to the ER. This transport is facilitated by various components, including COPI and COPII coat protein complexes and the transport protein particle complex. Recently, the ER-Golgi transport pathway has gained attention due to emerging evidence of nonvesicular transport mechanisms and the regulation of trafficking through liquid-liquid phase separation. Numerous diseases have been linked to mutations in proteins localized at the ER-Golgi interface, highlighting the need for comprehensive analysis of these conditions. This review examines the disease phenotypes associated with dysfunctional ER-Golgi transport factors and explores their cellular effects, providing insights into potential therapeutic strategies.
内质网（ER）-高尔基体界面对于将在内质网中合成的蛋白质通过内质网-高尔基体中间腔室运输到高尔基体至关重要，同时也有助于将蛋白质循环回内质网。这种运输由多种成分促进，包括COPI和COPII包被蛋白复合物以及运输蛋白颗粒复合物。最近，由于非囊泡运输机制的新证据以及通过液-液相分离对运输的调节，内质网-高尔基体运输途径受到了关注。许多疾病与定位在内质网-高尔基体界面的蛋白质突变有关，这凸显了对这些病症进行全面分析的必要性。本综述研究了与功能失调的内质网-高尔基体运输因子相关的疾病表型，并探讨了它们的细胞效应，为潜在的治疗策略提供了见解。
