D. Sean Froese

This study investigates how MMUT deficiency affects mitochondrial energy production in different cell types and variants, finding cell-type and variant-dependent effects.

The paper integrates multi-omics data from pediatric sepsis patients to identify a reproducible inflammatory host-response axis associated with disease severity.

This study determines the structures of human methionine synthase in apo and cobalamin-bound states, revealing conformational changes and interactions with MMADHC and MTRR that aid in cobalamin loading and activation.

The paper introduces a framework for defining and reusing qualifying variants (QVs) in genomic analysis to improve transparency, reproducibility, and interoperability across pipelines.

This paper introduces a statistical framework to quantify prior probabilities of disease-causing variants in inborn errors of immunity, revealing top genetic contributors and validating results in national cohorts.

The paper identifies a non-enzymatic role of NUDT5 in repressing purine de novo synthesis by scaffolding PPAT, with implications for cancer treatment and MTHFD1 deficiency.

This study uses patient-derived neurons to show mitochondrial dysfunction in MMA leads to neuronal exhaustion and altered excitability.

The paper shows that MTHFR phosphorylation depends on methionine levels and identifies MTHFR interactions with MTHFD1 and GCN1.

The paper identifies glutamine and secondary oxidative propionyl-CoA oxidation pathways as important in MMUT-type methylmalonic aciduria through genetic and environmental interventions in cellular and computational models.