Endoplasmic reticulum storage diseases

摘要: The endoplasmic reticulum represents the cell's quality control site for accurate folding of secretory and membrane proteins. Quality is achieved through association ER chaperones with unfolded or misfolded polypeptide chains. In stress response, upregulation occurs as a consequence proteins accumulating in lumen; if these fail to assume their native structure, they are retained targeted degradation by proteasome. storage diseases (ERSDs) group genetically based disorders which mutant pass control. Because all eukaryotic cells contain ER, clinical phenotype ERSDs very heterogeneous. Disease may result from mere lack protein question and/or be caused indirectly toxic effects aggregates thereof on cell. Additionally, reaction include signaling pathways ultimately detrimental. Experimentally, serve models study cellular reactions variety perturbations. particular, understanding links between cell degeneration give valuable insights into pathogenesis other where accumulation indigestible material leads injury.