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Description

Endoplasmic reticulum oxidoreductin-1alpha (Ero1alpha) improves folding and secretion of mutant proinsulin and limits mutant proinsulin-induced endoplasmic reticulum stress

Mutat Res Mol Mech Mutagen (2011) 711:193201

This missense mutation fundamentally alters the kinetics of the organic cation transporter OCTN1, shifting it from a tightly regulated, stress-responsive gatekeeper into a hyper-efficient, constitutively active conduit