Mitochondrial Function and Pathology

This study compares plant and human mitochondrial stress signaling systems to identify cross-kingdom principles that may inform human disease vulnerability.

This study investigates the effects of hypoxia and immune interventions in a mouse model of Leigh syndrome, showing that immune cell depletion suppresses disease and hypoxia cessation accelerates disease onset.

This study shows that mitochondrial presequences function in cytosolic quality control and trigger a heat shock response when mitochondrial import is inhibited.

This study identifies FAHD1 as a critical regulator of mitochondrial function and cardiomyocyte maturation, showing its deficiency impairs respiration, disrupts sarcomere organization, and leads to cardiac dysfunction.

This study shows that Chchd3 deficiency in Drosophila hearts impairs function through mitophagy, ROS, and ER stress, with partial rescue by antioxidant and ER stress interventions.

The paper identifies a de novo MFN2 mutation linked to dilated cardiomyopathy through functional and structural analysis.

The paper measures single-cell dry mass and mitochondrial redox efficiency across species, finding a sublinear scaling law and identifying mass control genes.

The paper examines how adenine nucleotides modulate nitric oxide synthesis by cytochrome c oxidase in mitochondria, showing differential effects of ADP and ATP and isoform-specific responses under hypoxia.

This study shows that elevated cholesterol in APOE4 astrocytes causes mitochondrial cristae collapse and ATP synthase dysfunction, linking cholesterol imbalance to mitochondrial disease.

This study shows that mitochondrial phosphate carrier (PiC) depletion increases matrix Ca2+ uptake and alters exercise performance in mice.

The paper introduces ORCA, a method to isolate mitochondria associated with specific organelles, revealing distinct proteomes and functional roles at organelle contact sites.

The paper identifies recurrent mtDNA variants, particularly in the LSP2 promoter, as a cause of tubulointerstitial kidney disease in families with maternal inheritance.

This study identifies sequence elements that enable dual localization of mitochondrial proteins, showing how combinatorial features regulate import and function across compartments.

This study examines how maternal iron deficiency affects cardiac mitochondrial function in hypertensive and normotensive pregnancies, finding altered mitochondrial structure and respiration with no apoptosis.

This study investigates the role of astrocytes in LHON pathology using iPSC-derived astrocytes, finding bioenergetic dysfunction and differences between recovery and non-recovery astrocytes.

This study profiles bioenergetic changes in fresh human kidney tissue from diabetic patients with preserved function, revealing compensatory metabolic adaptation and intrinsic mitochondrial dysfunction.

The paper shows that perinuclear clustering of mitochondria forms contact sites that facilitate GPS2 nuclear entry, essential for retrograde signaling, while TSPO-driven MNCS are not required.

The paper identifies THPO, IGF1, and MAPK as therapeutic targets for mitochondrial respiratory chain disease and osteosarcoma, showing their modulation can replicate the benefits of CHX treatment.

This study shows that NDUFV2P1 modulates mitochondrial and neuronal function in schizophrenia by interfering with NDUFV2, suggesting therapeutic potential for targeting PG in bioenergetic disorders.

The paper investigates how PINK1 stabilizes the RMDN3-VAPB interaction at mitochondrial-ER contact sites during depolarization without changing the proteomic landscape.

The paper shows that Vms1 protects mitochondrial import and homeostasis during translation stress by interacting with Msp1.

The paper determines the structure of a MICOS sub-assembly using integrative methods, revealing novel interfaces and mutation hotspots.

The paper maps concealed mitochondrial DNA mutations across 2.7 million cells from 311 individuals, finding that low-prevalence mutations accumulate with age and predict human age.

This study shows that CBR4 is essential in mammals but not for skeletal muscle function, as muscle-specific Cbr4 knockout in mice did not cause measurable defects.

The paper identifies MTERF1 as a suppressor of mtDNA deletion pathologies by showing its loss enhances mitochondrial function through transcriptional relief.

This study identifies THAP12 as a transcriptional regulator of mitochondrial complex I biogenesis and shows its role in neurodevelopmental disorders.

This study examines mitochondrial defects in Drosophila melanogaster iPLA2-VIA mutants, showing structural and functional impairments across tissues and age.

This study shows that loss of CHCHD2 and CHCHD10 causes tissue-specific bioenergetic defects in cardiac and skeletal muscle, leading to distinct pathological outcomes.

The paper identifies mitochondrial inner membrane proteins interacting with AURKA and PHB2, showing their role in shaping metabolic heterogeneity and mitochondrial morphology in cancer cells.