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Ischemic Preconditioning Targets the Respiration of Synaptic Mitochondria via Protein Kinase Cε
TLDR
It is proposed that, at 48 h of reperfusion after ischemic preconditioning, εPKC is poised at synaptic mitochondria to respond to ischemia either by direct phosphorylation or activation of the ε PKC signaling pathway.
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mTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription.
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Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
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Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
TLDR
These findings add to the array of mutations in TTC19, corroborate the notion of genotype/phenotype variability in mitochondrial encephalomyopathies even within a single family, and indicate that psychiatric manifestations are a further presentation of low CIII.
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Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance
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Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
TLDR
Clinical, neuroimaging, and molecular data indicate that the NDUFS1 mutation is responsible for the disease and complex I deficiency in two inbred siblings with isolatedcomplex I deficiency associated to a progressive cavitating leukoencephalopathy.
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Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.
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Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
TLDR
The study contributes to expand the array of the genotypic variation of IBA57 and delineates the leukodystrophic pattern of I BA57 deficient patients.
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Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
TLDR
Results showed that a partial defect in CI in neurons can lead to late-onset motor phenotypes without neuronal loss or oxidative damage, and this protein is required for embryonic survival.
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Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
TLDR
An international multicenter cohort of 16 patients with biallelic pathogenic variants in ACO2 gene provides the most extensive cohort of patients and further delineates the clinical, radiological, biochemical, and molecular features of ACO1 deficiency.
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