Discovery and validation of small molecule stabilizers of mutant triose phosphate isomerase (TPI) as potential lead candidates for TPI deficiency.

doi:10.1016/j.slasd.2025.100278

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Article

Discovery and validation of small molecule stabilizers of mutant triose phosphate isomerase (TPI) as potential lead candidates for TPI deficiency.

SLAS discovery : advancing life sciences R & D - 1 Oct 2025

Vollmer Laura L, Roberts Presley, Eicher Samantha L, Wołosowicz Marta, Patel Priyal, Figura Joseph R, Donahue Ella R, Berkowitz Josh, Gavlock Dillon, Wipf Peter, LaPorte Matt, Mullett Steven J, Shillington Amelle, Homanics Gregg E, Palladino Michael J, Vogt Andreas

Abstract excerpt

Triosephosphate Isomerase deficiency (TPI-Df) is a devastating untreatable childhood metabolic disease resulting in anemia, severe locomotor impairment, and premature death. Numerous single amino acid substitutions in TPI are pathogenic and result in rapidly progressing multisystem disease. Importantly, all known pathogenic TPI-Df mutations result in a protein that retains function, and pathogenesis is known to...

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PMID: 40967261
DOI: 10.1016/j.slasd.2025.100278
PMCID: PMC12707346

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