Author

B. Iaparov

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Open access Aug 2026

ER stress and structural changes induced by rare WFS1 variant identified in autosomal dominant form of WFS1-related disorder

Combined structural and functional evidence indicates that this variant disrupts protein stability, activates ER stress, and impairs ER–mitochondria communication, supporting its potential pathogenic role.

Silvia Borecka, A. Zahradníková, Lukáš Varga et al. · Molecular Medicine · 0 citations