Charalampos Tzoulis

This study uses MRI to show that nigrosomes in Parkinson's patients show specific magnetic properties changes, indicating vulnerability without direct neuronal loss.

This study investigates neuroinflammation and metabolic dysfunction in POLG-related mitochondrial epilepsy using post-mortem brain tissues and proteomic analysis.

The paper investigates mitochondrial complex I deficiency in Parkinson's disease muscle biopsies, finding 9% of cases show reduced CI activity without mtDNA abnormalities.

This study identifies two subtypes of idiopathic Parkinson's disease based on mitochondrial complex I deficiency, with distinct molecular and clinical features.

This paper develops a cerebral organoid model of POLG disease that recapitulates its molecular and pathological features, including mtDNA depletion and neuronal loss, and shows metformin can alleviate some abnormalities.

This study uses iPSC-derived cortical organoids to model Alpers' disease and shows that nicotinamide riboside improves mitochondrial defects and neuronal loss.

This study uses ultra-deep whole genome bisulfite sequencing to analyze mtDNA methylation in human brain tissue, identifying a single CpG site with significant methylation and correlating it with mtDNA transcript levels.

The paper identifies genome-wide dysregulation of histone acetylation in Parkinson's disease brains, linking it to disease-related genes and altered gene expression.

This study shows that POLG mutations in astrocytes cause mitochondrial dysfunction and neurotoxicity, leading to neuronal death through altered metabolism and reactive astrocyte behavior.

This study shows that common gene expression signatures in Parkinson’s disease are driven by changes in cell composition rather than true biological changes.