Ethan O Perlstein

8PUBLICATIONS
31CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsNeurology and neuromuscular diseasesGene and molecular therapyMedical infection agents (incl. prions)Molecular medicine
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Publications (8)

|Jun 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

|Feb 06, 2026
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG.

Hiba Daghar, Seul Kee Byeon, Claudia Maios

|Mar 10, 2025
The Therapeutic Future for Congenital Disorders of Glycosylation.

I J J Muffels, T Kozicz, E O Perlstein

|Oct 10, 2022
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease.

Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli

|Oct 23, 2019
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.

Sangeetha Iyer, Feba S Sam, Nina DiPrimio

|Oct 17, 2019
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.

Sangeetha Iyer, Joshua D Mast, Hillary Tsang

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Frequent Collaborators

4 joint publications

Eva Morava

3 joint publications

Joshua D Mast

2 joint publications

I J J Muffels

2 joint publications

T Kozicz