Simon Heales

Mitochondrial pyruvate import in astrocytes links anaplerosis to seizure resistance

This study shows that mitochondrial pyruvate import in astrocytes is essential for maintaining neurotransmitter homeostasis and seizure resistance, rather than primarily for bioenergetic purposes.

Multi-Omic Analysis Reveals Lipid Dysregulation Associated with Mitochondrial Dysfunction in Parkinson's Disease Brain

This study identifies lipid dysregulation linked to mitochondrial dysfunction in Parkinson's Disease brain regions through multi-omics analysis of lipids, proteomics, and mitochondrial activity.

Mitochondrial stress in Fabry disease

This study investigates the relationship between mitochondrial stress markers and clinical outcomes in Fabry disease patients, finding that Hsp60 levels correlate with disease severity in specific genotypes.

Protein aggregation and calcium dysregulation are the earliest hallmarks of synucleinopathy in human midbrain dopaminergic neurons

This study uses hiPSCs with SNCA mutations to identify early molecular events in synucleinopathy, showing protein aggregation precedes functional impairments in midbrain dopaminergic neurons.

Gene therapy in argininosuccinic aciduria

This paper demonstrates that gene therapy using AAV8 vector corrects urea cycle and citrulline-NO cycle defects in ASL-deficient mice, reducing neuronal disease and improving behavior.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.