Marni J. Falk

This paper shows that DCA improves survival, growth, neuromuscular activity, mitochondrial function, and reduces lactate in C. elegans models of PDHc deficiency.

The paper identifies THPO, IGF1, and MAPK as therapeutic targets for mitochondrial respiratory chain disease and osteosarcoma, showing their modulation can replicate the benefits of CHX treatment.

This study identifies coenzyme Q redox balance as a regulator of dopaminergic neuron activity and juvenile sleep in Drosophila by linking mitochondrial complex I function to sleep fragmentation and depth.

This study identifies five compounds that improve mitochondrial function and survival in Cockayne syndrome patient fibroblasts by targeting oxidative stress, autophagy, and cellular resilience.

This study evaluates metabolic and mitochondria-targeted therapies for osteosarcoma using in vitro models, finding that combined treatments like ONC201/ONC206/metformin show enhanced cytotoxicity with minimal toxicity to normal cells.

This study shows that cognate amino acid treatment improves growth, neuromuscular function, and reduces stress in 19 C. elegans models of mt-ARS deficiency.

This study generates ndufs2-/- zebrafish with CI deficiency, showing metabolic and neuromuscular defects treatable by folic acid.

The paper characterizes the clinical progression of SLSMDS by analyzing electronic health records and identifies key genetic and clinical features associated with disease evolution.

This study identifies therapeutic candidates for SLSMD diseases by screening mitophagy modulators in a C. elegans model, showing that Celastrol reduces mitochondrial stress and improves health outcomes.

This study shows that N-glycosylation of MRS2, a mitochondrial Mg2+ transporter, regulates Mg2+ influx and balances energy production under high glucose or impaired respiration.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.