Gareth J. Sullivan

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 shows that Nicotinamide Riboside improves mitochondrial function and neuron count in POLG mutant midbrain organoids.

This study develops a method to generate midbrain organoids from stem cells and shows that POLG mutant organoids exhibit neuronal loss and mitochondrial dysfunction, relevant to Parkinson's disease.

The paper investigates how POLG genotype affects mitochondrial dysfunction in iPSC-derived neural progenitors, finding greater impairment in compound heterozygous lines compared to homozygous ones.

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