Laurence Albert Bindoff

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.

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 identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

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 characterizes the molecular pathogenesis of a POLG mutation by showing how it impairs POLγA function and leads to mtDNA instability through LONP1-dependent degradation.