Mitochondrial Function and Pathology

This study identifies mitochondrial calcium release through VDAC1 as a key trigger for Schwann cell demyelination via MAPK and c-Jun activation.

This study shows that twnk-1 in C. elegans is not the mitochondrial DNA replicative helicase, but instead has alternative mitochondrial functions.

The paper shows that light-evoked activity and BDNF regulate mitochondrial dynamics and localized translation in axons during retinal ganglion cell maturation.

This study shows that small-molecule G-quadruplex binders can reduce pathogenic mtDNA heteroplasmy in fibroblasts, increasing complex I protein levels.

The paper shows that proteostasis disruption leads to RCC subunit aggregation, impairing complex assembly and causing mitochondrial dysfunction.

This study shows that SDHB deficiency reprograms energy metabolism and protects against high fat diet-induced obesity by restoring glucose and lipid metabolism.

The paper analyzes mtDNA deletion breakpoints using thermodynamic methods to identify misalignment lengths and proposes mechanisms for DSB-induced deletions.

The paper shows that combining mitochondrial tRNA and OXPHOS mutations in mice leads to reduced lifespan and physical condition with age, but not with single mutations.

The paper develops a method to detect mitochondrial heteroplasmy using NGS data and evaluates sources of mtDNA for clinical diagnostics.

The paper examines the functional differences of mitochondrial genomes in metabolic syndrome and cancer using cybrid cells, finding associations with disease traits and tumorigenicity.

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.

This study identifies GPS2 as a mediator of mitochondrial retrograde signaling and a key activator of nuclear-encoded mitochondrial genes, revealing a novel mitochondria-nuclear communication pathway.

This study compares the uptake efficiency of unpackaged and lipid-packaged mitochondria in recipient cells, finding that lipid packaging enhances mitochondrial uptake and functionality.