Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

• Auteurs principaux: Sangeetha Iyer (Auteur), Feba S. Sam (Auteur), Nina DiPrimio (Auteur), Graeme Preston (Auteur), Jan Verheijen (Auteur), Kausalya Murthy (Auteur), Zachary Parton (Auteur), Hillary Tsang (Auteur), Jessica Lao (Auteur), Eva Morava (Auteur), Ethan O. Perlstein (Auteur)
• Format: Livre
• Publié: The Company of Biologists, 2019-11-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG. To identify clinically actionable compounds that boost human PMM2 enzyme funct...