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SEPN1-related Myopathy Depends on the Oxidoreductase ERO1A and is Druggable with the Chemical Chaperone TUDCA.

A. Ferreiro,S. Germani,A. Tri Van Ho,A. Cherubini,E. Varone,A. Chernorudskiy,G. Renna,S. Fumagalli,M. Bolis,G. Rastelli,L. Nogara,E. Poggio,M. Brini,A. Cattaneo,A. Bachi,T. Simmen,T. Cali,S. Boncompagni,B. Blaauw,E. Zito

NEUROMUSCULAR DISORDERS（2024）

Cited 6|Views40
Key words
ER stress,ERO1,SEPN1,TUDCA,multi mini-core disease,core myopathy
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