Mitochondrial Function and Pathology

The paper shows that tafazzin deficiency in Barth Syndrome protects against ferroptosis by altering mitochondrial cardiolipin metabolism, affecting VDAC function and reducing ROS availability for ferroptosis.

This paper introduces a novel mitochondrial-targeting dye, Cy5-PEG4, for in vivo brain imaging and neurodegenerative disease studies, showing improved BBB penetration and reduced toxicity.

This study investigates the link between mitochondrial DNA mutations and Leigh syndrome, carotid atherosclerosis, and MELAS syndrome, identifying shared genetic pathways and potential therapeutic targets.

This study shows that excess ER-Ca2+ release via RyR contributes to mitochondrial dysfunction in AD neurons, leading to cellular pathology and that pharmacological inhibition of RyR-Ca2+ release can reverse these effects.

The paper identifies nitazoxanide and tizoxanide as compounds that increase MNRR1 levels, improving mitochondrial function in MELAS by inhibiting HIF2α-mediated transcriptional suppression.

This study identifies mitochondrial adaptations in naked mole-rats that confer hypoxia resistance, linking social behavior to molecular evolution.

This study identifies CALHM2 as an ATP-regulated mitochondrial channel, showing it affects ATP levels and mTOR pathway activity, with implications for aging and disease.

This study identifies AFG3L2-mediated proteolysis as a mechanism that restricts mitochondrial biogenesis and gene expression under hypoxia by degrading key mitochondrial proteins.

The paper identifies age-dependent selection forces that drive mtDNA mutation accumulation in liver cells, leading to functional decline.

This study links mitochondrial complex I levels to task switching performance and BOLD response using PET and fMRI in healthy humans.

This study shows that restoring mitochondrial complex III function in the liver of CIII-deficient mice prevents hypothermia and improves survival by enabling normal thermoregulation.

This study identifies diet-induced mitochondrial DNA replication instability in Rad51c mutant mice as a molecular cause of sex-bias in anemia of inflammation, showing estrogen protects females by reducing oxidative stress.

This study shows TBC1D24 regulates mitochondrial structure, activity, and ER-mitochondria contact sites, contributing to neurological disorders.

This study shows that temperature affects mitochondrial structure and function, which in turn influences host cell outcomes during influenza A virus infection.

The paper identifies a novel homozygous MFN2 variant R334K linked to a lethal neonatal disorder and shows it causes severe mitochondrial dysfunction, confirmed through functional studies and Drosophila modeling.

This study uses computational structural genomics to analyze mitochondrial enzyme complexes in MDS, showing improved variant phenotyping compared to conventional methods.

The paper investigates the role of mitochondrial DNA repeats in aging and healthspan, finding that disrupting the common repeat reduces somatic deletions and improves healthspan.

The paper shows that apparent reversion mutations in mtDNA are not real but result from sample cross-contamination and NUMTs.

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

The paper shows that specific cytosolic RNAs bind ATP5A1 precursor proteins and promote their mitochondrial import.

This study identifies DUSP28 as a phosphatase regulating mitochondrial dynamics during ER stress by promoting fission and inhibiting mitophagy.

The paper shows that cell-free chromatin particles cause genomic DNA damage in an ROS-independent manner, suggesting new therapeutic targets for aging and degenerative diseases.

This study shows MIRO1 regulates VSMC proliferation and neointima formation by controlling mitochondrial positioning, ATP production, and ETC function.

The paper shows that a cleaved cytosolic FOXG1 enhances mitochondrial translation and promotes excitatory neurogenesis, offering a new therapeutic target for mitochondrial disorders.

This study identifies Mfn2's role in promoting NCLX-mediated Ca2+ release from mitochondria, linking mitochondrial ROS to mitophagy via Ca2+ signaling.

This study shows that reduced Shmt2 expression causes mtDNA leakage into the cytosol, triggering different downstream effects like apoptosis or activation of the cGAS/STING pathway in different cell types.

This paper identifies SV2A as a mitochondrial outer membrane protein that regulates mitochondrial morphology and autophagy through interactions with DRP1 and ATG9A.

This study shows that mitoNEET downregulation during EMT impairs OXPHOS and cell motility in mouse mammary epithelial cells.

The paper identifies ITPRIPL2 as a novel protein involved in mitochondrial dynamics through computational interaction analysis and shows its role in vimentin-associated intermediate filament structure.