Latest papers

Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype.

Noncompacted foamy heart in suspected mitochondrial disorder

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.

Mitochondrial biogenesis and turnover

A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.

Severe lactic acidosis secondary to minocycline in a teenager with infectious mononucleosis and mitochondrial myopathy.

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.

Skeletal muscle metabolic dysfunction in obesity and metabolic syndrome.

Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies.

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

Molecular mechanisms for myocardial mitochondrial dysfunction in the metabolic syndrome.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Progressive myopathy with a combined respiratory chain defect including Complex II.

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy.

Uridine supplementation antagonizes zidovudine-induced mitochondrial myopathy and hyperlactatemia in mice.

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.

Human CoQ10 deficiencies.

[Case of mitochondrial myopathy presenting as pseudoileus].

Age-related mitochondrial DNA point mutations in patients with mitochondrial myopathy.