bioRxiv
Hypoxia versus immune depletion - immune profiling and treatment cessation provide mechanistic insights and considerations for translation in Leigh syndrome
By Elizaveta A. Olkhova, Ernst-Bernhard Kayser, Anastasia Dimitriou, Show 10 more authorsSimon C. Johnson
Preprint: experiments in animalsInterventions
Abstract
Genetic mitochondrial diseases (GMDs) are major challenges to human health accounting for a significant fraction of heritable neurologic diseases, myopathies, and inborn errors of metabolism. Leigh syndrome (LS) is the most common clinical presentation of GMD in pediatric patients.
The paper
Northumbria University
bioRxiv, 19 Aug 2026, CC BY, Preprint, not peer-reviewed
