Alberto Sanz

This study identifies pathogenic PTCD1 variants causing mitochondrial protein aggregation and cardiomyopathy by disrupting mitoribosome biogenesis and proteostasis.

The paper identifies a conserved mechanism regulating mtDNA copy number through compartmentalization of redox co-factors across eukaryotes.

This study identifies a hybrid inflammasome formed by NLRP1 and NLRP3 in human cells, associated with inflammation in inflammasomopathies and transplant patients.

This study shows that developmental mitochondrial complex I dysfunction reduces lifespan and stress resistance, while adult-onset dysfunction increases lifespan and stress resistance.

This study shows that developmental mitochondrial dysfunction limits lifespan in Drosophila, while adult dysfunction accelerates ageing, with metabolic adaptations during development being critical for survival.