Hibiki Kawamata

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

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 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.

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 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.