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The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
TLDR
Light is shed on the mechanisms of mitochondrial biogenesis, the role of GFER in the human DRS is established, and an understanding of the pathogenesis of a new mitochondrial disease is promoted. Expand
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
TLDR
Interestingly, exposure to reactive oxygen species (ROS) scavengers dramatically increased the viability of the WB-12 transformant, suggesting that increased redox stress is involved in the pathogenesis of the disease and that anti-ROS therapy may be beneficial to patients. Expand
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
TLDR
The results indicate that S. cerevisiae is a suitable in vivo model to study the pathogenicity of the human ANT1 mutations and the pathophysiology leading to impairment of oxidative phosphorylation and damage of mtDNA integrity, as found in adPEO. Expand
FOG1 and FOG2 genes, required for the transcriptional activation of glucose-repressible genes of Kluyveromyces lactis, are homologous to GAL83 and SNF1 of Saccharomyces cerevisiae
TLDR
Genetic and physiological evidences suggest a role for FOG1 and FOG2 in the regulation of glucose-repressible gene expression in response to a glucose limitation, and the regulatory effect appears to be at the transcriptional level, at least for β-galactosidase. Expand
Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1.
TLDR
This work confirmed the existence of a second galactose transporter and isolated its structural gene, which turned out to be HGT1, previously identified as encoding the high-affinity glucose carrier and could explain the rapid adaptation toGalactose observed in K. lactis after a shift from glucose to Galactose medium. Expand
Behaviour of Saccharomyces cerevisiae wine strains during adaptation to unfavourable conditions of fermentation on synthetic medium: cell lipid composition, membrane integrity, viability and
TLDR
Investigation of the ability of wine strains to survive and adapt to unfavourable conditions of fermentation showed that the three strains were able to modulate cell lipid composition during fermentation, but only two of them showed highest viability and membrane integrity at the end of the fermentation process, which seemed to be optimal for a successful adaptation. Expand
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
TLDR
It is shown that both recombinant AAC1 mutant proteins are severely impaired in ADP/ATP transport, affecting most likely the substrate binding and mechanics of the carrier, respectively, and this highly reduced capacity for transport probably affects mitochondrial DNA maintenance and in turn respiration, causing a severe energy crisis. Expand
Regulation of the Saccharomyces cerevisiae DLD1 gene encoding the mitochondrial protein D-lactate ferricytochrome c oxidoreductase by HAP1 and HAP2/3/4/5
TLDR
The Hap2/3/4/5 complex is necessary for DLD1 derepression following a shift from fermentable to non-fermentable carbon sources, while the Hap1p effect was independent of the carbon sources tested. Expand
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
TLDR
An increase of the mitochondrial dNTP pool and/or a decrease of reactive oxygen species can prevent the mtDNA damage induced by pol gamma mutations in yeast and, possibly, in humans. Expand
Co-ordinate regulation of lactate metabolism genes in yeast: the role of the lactate permease gene JEN1
TLDR
In the yeast Saccharomyces cerevisiae, the first step in lactate metabolism is its transport across the plasma membrane, a proton symport process mediated by the product of the gene JEN1, which is negatively regulated by the repressors Mig1p and Mig2p and requires Cat8p for full derepression. Expand
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