E. O. Perlstein

Experimental evolution of phosphomannomutase-deficient yeast reveals compensatory mutations in a phosphoglucomutase

This study uses experimental evolution in yeast to identify compensatory mutations that alleviate the effects of human disease-associated PMM2 mutations.

Multi-Species Phenotypic Screening across Disease Models of Mucolipidosis Type IV

The paper screens a compound library across invertebrate and human models of mucolipidosis IV to identify conserved disease modifiers, finding cyclin-dependent kinase inhibition as a potential therapeutic strategy.

Drug repurposing for mitochondrial diseases using a pharmacological model of complex I deficiency in the yeast Yarrowia lipolytica

This paper identifies drug candidates for treating complex I deficiency mitochondrial diseases using a yeast model, finding estrogen-related compounds and calcium channel blockers as potential suppressors.

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

This paper identifies epalrestat, an existing drug, as a PMM2 enzyme activator for PMM2-CDG, showing it improves enzyme activity in patient fibroblasts.