Heather Mortiboys

The paper develops a SorCS2-derived macrocycle, TT-P34, which shows neuroprotective effects in animal models of neurodegeneration by enhancing mitochondrial function and reducing disease symptoms.

This study identifies a common mitochondrial dysfunction phenotype in Leigh syndrome and Huntington's disease patient fibroblasts and finds that the AMPK activator A769662 rescues this phenotype in both conditions.

This study shows that telomerase deficiency in zebrafish accelerates brain ageing by promoting senescence, inflammation, and blood-brain barrier dysfunction.

This study identifies secondary nucleation of α-Synuclein as the key mechanism driving mitochondrial dysfunction and Lewy body formation in Parkinson's Disease.

This study shows that C9orf72-ALS mutation impairs mitophagy in iNeurons by reducing autophagosome production and ULK1 recruitment to mitochondria.

This study shows that activating the Keap1/Nrf2 pathway reduces mitochondrial dysfunction and motor deficits in C9orf72 ALS/FTD models and patient-derived neurons.

The paper shows that apoE isoforms modulate Aβ aggregation, clearance, and toxicity in Alzheimer's disease, with implications for therapeutic strategies.

This study identifies a novel RNA-binding function of PGC-1alpha that couples transcriptional co-activation with mRNA nuclear export and mitochondrial homeostasis.

This study shows that AD astrocytes have reduced mitochondrial and glycolytic function, which can be improved by increasing hexokinase 1 expression.

The paper shows that PRKN mutations impair mitophagy in dopaminergic neurons during a metabolic switch to oxidative phosphorylation.

The paper investigates the additive effect of genetic risk variants for Parkinson's disease and finds an unexpected rescue effect on neuronal function and survival in zebrafish with combined GCase and ASM deficiency.

This study identifies HDAC6 as a novel LRRK2 substrate and shows that LRRK2-mediated phosphorylation of HDAC6 enhances aggresome formation, linking LRRK2 dysfunction to Parkinson's disease pathology.