Article
A High-Content Screening Assay for Small Molecules That Stabilize Mutant Triose Phosphate Isomerase (TPI) as Treatments for TPI Deficiency.
SLAS discovery : advancing life sciences R & D - 1 Sept 2021
Vogt Andreas, Eicher Samantha L, Myers Tracey D, Hrizo Stacy L, Vollmer Laura L, Meyer E Michael, Palladino Michael J
Abstract excerpt
Triose phosphate isomerase deficiency (TPI Df) is an untreatable, childhood-onset glycolytic enzymopathy. Patients typically present with frequent infections, anemia, and muscle weakness that quickly progresses with severe neuromusclar dysfunction requiring aided mobility and often respiratory support. Life expectancy after diagnosis is typically ~5 years. There are several described pathogenic mutations that...
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