Author

M. Palladino

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Open access Sep 2026

PHD Inhibitor Vadadustat: The First Drug Therapy for Triosephosphate Isomerase Deficiency

Background/Objectives: Triosephosphate isomerase deficiency (TPI Df) is an ultra-rare autosomal recessive glycolytic disorder characterized by symptoms of hemolytic anemia, progressive neuromuscular dysfunction, and early mortality. The TPI1E105D mutation (TPI1 variant p.Glu105Asp) accounts for most cases, though TPI D...

Emmanuel Scalais, Priyal S. Patel, Sidney L. Satterfield et al. · Genes · 0 citations

Open access Sep 2026

Ubiquitin Proteasome System BTB-Adaptor Protein Insomniac Modifies Seizure Severity and Response to the Ketogenic Diet in a Drosophila Model of Mitochondrial Encephalomyopathy

Background/Objectives: The ubiquitin proteasome system (UPS) serves critical cellular homeostatic functions that contribute to neurological health, including neuronal metabolism, synaptic plasticity, and the molecular circadian clock. The UPS is tightly regulated to ensure the correct balance of healthy proteins and th...

Keri J. Fogle, Brynn Urban, Dana M. Mumford et al. · Genes · 0 citations