Michael R. Duchen

This study shows that targeting lysosomal pH with rapamycin or acidic nanoparticles restores mitochondrial function in GBA1-mutant Parkinson's disease neurons.

This study identifies EPG5 mutations causing neurodegeneration via mitochondrial dysfunction and innate immune activation in patient-derived cells.

The paper identifies mechanisms of mitochondrial streaming in oocytes, showing actin-driven and chromatin-associated pathways that pattern mitochondrial distribution.

The paper identifies AIP as a regulator that links mTORC1 activation with catabolic metabolism during neonatal development, ensuring metabolic adaptation and survival.

This study identifies redox-dependent binding configurations of NAD(P)H in live cells using FLIM and modeling, revealing how redox states influence fluorescence decay.

This study generates hiPSC-derived myofibres with the m.3243A>G mutation to model mitochondrial disease, showing metabolic and physiological changes related to mutation load.

The paper establishes a humanized neuronal model to investigate the effects of manganese dysregulation on neuronal function and disease mechanisms.

The paper shows that the NNS complex regulates RNA homeostasis in yeast by controlling the expression of the mitochondrial transporter Pic2, with defects causing growth defects and stress.

This study shows that biallelic AIP loss causes a severe pediatric disease with proteostasis defects, observed in human and zebrafish models.

A mouse model with impaired mitochondrial pyruvate import shows neuronal hyperexcitability and seizures despite reduced oxidative phosphorylation.