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Updated: Jul 10, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Published on: December 20, 2017

ER压力和未折叠蛋白质反应对法布里病的影响

Malte Lenders1, Elisa Rudolph1, Eva Brand1

  • 1Internal Medicine D (Nephrology, Hypertension and Rheumatology), and Interdisciplinary Fabry Centre (IFAZ), University Hospital Muenster, Muenster, Germany.

EBioMedicine
|April 29, 2025
PubMed
概括

法布里病 (FD) 涉及GLA基因,导致基质积累和器官损伤. 细胞内膜网膜应激和未展开的蛋白质反应在FD病原和细胞损伤中起着关键作用.

关键词:
陪伴者 (Chaperones) 是指一个陪伴者.溶酶体储存障碍 溶酶体储存障碍错误的意义变体

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Role of ER in the Secretory Pathway

Eukaryotic cells have a special pathway that enables communication between various intracellular membrane-bound compartments and also with the extracellular environment. This pathway is termed as the secretory pathway.
Components of the secretory pathway
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Protein Folding Quality Check in the RER

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Export of Misfolded Proteins out of the ER

After folding, the ER assesses the quality of secretory and membrane proteins. The correctly folded proteins are cleared by the calnexin cycle for transport to their final destination, while misfolded proteins are held back in the ER lumen. The ER chaperones attempt to unfold and refold the misfolded proteins but sometimes fail to achieve the correct native conformation. Such terminally misfolded proteins are then exported to the cytosol by ER-associated degradation or ERAD pathway for...
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