1 Scopus citations

Abstract

The endoplasmic reticulum (ER) lies at the crossroads of protein folding, calcium storage, lipid metabolism, and the regulation of autophagy and apoptosis. Accordingly, dysregulation of ER homeostasis leads to β-cell dysfunction in type 1 and type 2 diabetes that ultimately culminates in cell death. The ER is therefore an emerging target for understanding the mechanisms of diabetes mellitus that captures the complex etiologies of this multifactorial class of metabolic disorders. Our strategy for developing ER-targeted diagnostics and therapeutics is to focus on monogenic forms of diabetes related to ER dysregulation in an effort to understand the exact contribution of ER stress to β-cell death. In this manner, we can develop personalized genetic medicine for ERstress-related diabetic disorders, such as Wolfram syndrome. In this article, we describe the phenotypes and molecular pathogenesis of ERstress-related monogenic forms of diabetes.

Original languageEnglish
Article number107618
JournalJournal of Diabetes and Its Complications
Volume35
Issue number1
DOIs
StatePublished - Jan 2021

Keywords

  • ER stress
  • Endoplasmic reticulum
  • Genetic medicine
  • Genetic testing
  • Personalized medicine
  • Wolfram syndrome

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