Ethan O. Perlstein

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

The paper develops a C. elegans model of SRD5A3-CDG and identifies atorvastatin as a potential repurposed therapy through a high-throughput screen.

This paper presents a yeast-based drug repurposing platform for inherited metabolic diseases, demonstrating its efficacy through case studies and showing potential to accelerate therapy development.

The paper identifies repurposable drugs for mitochondrial disease by using deep learning to screen for compounds that improve neuronal commitment and neurogenesis in Leigh syndrome organoids.

This study shows that glial cells regulate sphingolipid levels to drive daily remodeling of circadian circuits in Drosophila.

This paper uses yeast models to study PMM2-CDG mutations, identifies compounds that suppress growth defects, and suggests pathogenicity mechanisms in human patients.

This study uses a Drosophila model of NGLY1 Deficiency to identify therapeutic compounds and gene modifiers that rescue developmental defects.

The paper predicts that Mendelian disease missense mutations are enriched in conserved amino acids and cause greater protein instability than benign mutations.