A pharmacological chaperone stabilizer rescues the expression of the vast majority of pathogenic variants in a G protein-coupled receptor

Abstract excerpt

Reduced protein stability is the most frequent mechanism by which rare missense variants cause disease. A promising therapeutic avenue for treating destabilizing variants is pharmacological chaperones (PCs, also known as correctors or stabilizers), small molecules that bind to and stabilize target proteins. PCs have been approved as clinical treatments for specific variants, but protein energetics suggest their ef...

Topics

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• Diabetes Insipidus, Nephrogenic
• Drug Discovery
• Ligands
• Molecular Chaperones
• Mutation
• Proteostasis Deficiencies
• Receptors, G-Protein-Coupled
• Receptors, Vasopressin

Identifiers and source

Literature Corpus work

10a9027c-1c19-53b3-b39b-49585e669163

DOI

10.1101/2024.11.28.625821