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

Abstract excerpt

Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation affecting over 1,000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG. In order to identify clinically actionable compounds that boost human PMM2 enzyme function, we performed a multi-species drug repurposing screen using a first-ever worm model of PMM2-CDG followed...

Topics

Open a Topic to create a Post that cites this publication.

• Congenital Disorders of Glycosylation
• Drug Discovery
• Glycosylation and Glycoproteins Research
• High-Throughput Screening Assays
• Loss of Function Mutation
• Phosphotransferases (Phosphomutases)
• Protein Stability
• Proteolysis

Identifiers and source

Literature Corpus work

0070b1a9-8105-5879-b153-61919e53b26b

DOI

10.1101/626697