Giovanni Manfredi

This study shows that calcium dysregulation in Friedreich's ataxia fibroblasts enhances fibrotic responses to TGFβ by affecting NFAT-controlled genes and NCX1 function.

This study identifies lipid-mediated ER stress as a driver of muscle dysfunction in mitochondrial myopathies and shows that ceramide inhibition improves symptoms in a mouse model.

This study investigates mitochondrial phenotypes in motor neurons derived from familial ALS patients using direct conversion of fibroblasts, identifying metabolic and functional differences across mutations.

This study generates CHCHD2 T61I mutant mice to model Parkinson's disease, finding mitochondrial dysfunction and metabolic shifts towards glycolysis.

This study shows mitochondrial dysfunction and oxidative stress occur before neuronal loss in DRPLA patient-derived neurons, and phenylbutyrate treatment improves survival.

The paper identifies amyloid fibril structures of CHCHD10 and links them to neurodegeneration, showing sequence differences between CHCHD10 and CHCHD2 allow co-aggregation.

This study shows that expressing alternative oxidase (AOX) reduces reverse electron transfer and oxidative stress in ischemia-reperfusion brain injury, preserving complex I function and providing neuroprotection.

This study shows that a high fat diet improves mitochondrial cardiomyopathy in CHCHD10 mutant mice by enhancing fatty acid utilization and reducing protein aggregation.

This study shows glucose hypometabolism in C9orf72-related ALS/FTD leads to DPR production, neuronal death, and motor dysfunction through GCN2 activation.

The paper compares multi-omics data from three mouse models of partial frataxin deficiency to assess mitochondrial stress in the heart, finding mild transcriptional changes despite severe FXN reduction.

The paper uses machine learning on fibroblast morphometry to predict stress but finds limited ability to distinguish ALS from controls.

This study examines the effects of AMX0035 on the transcriptomic and metabolomic profiles of sporadic ALS fibroblasts, finding that the combination treatment alters more genes and metabolites than individual components.

The paper maps Tau interactomes in neurons using APEX and AP-MS to reveal activity-dependent interactions and FTD mutation effects on mitochondrial associations in neurodegenerative diseases.

This study examines sex differences and the role of ERβ in gene expression in the mouse posterior cortex, finding few sex-specific genes and suggesting post-transcriptional effects of ERβ.

The paper identifies a subclass of sporadic ALS patients with metabolic defects in trans-sulfuration, characterized by increased cysteine and glutathione synthesis and distinct metabolic responses.

The paper identifies a distinct metabolomic subtype in sporadic ALS patients through metabolite profiling and multi-omics integration, showing increased cysteine metabolism and potential therapeutic targets.