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Chapter
Concerning the Surface Lattice of Microtubules
Microtubules are important components of the cytoskeleton in eukaryotic cells. In-vitro assembled microtubules have been observed by cryo-electron microscopy of frozen-hydrated samples. The individual microtubule...
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Article
Clinical aspects of mitochondrial disorders
Mitochondrial disorders have long been regarded as neuromuscular diseases only. In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expecte...
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Article
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts
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Article
The investigation of respiratory chain disorders in heart using endomyocardial biopsies
Hitherto, cardiomyopathy has never been reported as the presenting symptom of a mitochondrial disorder. Although it appears premature to conclude as to the prevalence of defects of oxidative phosphorylation in...
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Article
Valproate-induced hepatic failure in a case of cytochromec oxidase deficiency
We report a 3 year-old girl with a myoclonic epilepsy. A fatal hepatic failure occurred after 3 months of valproate (VPA) therapy. In this patient, a defect of cytochromec oxidase (COX) was demonstrated in her ci...
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Article
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
Recent studies have identified a group of patients with cytochrome oxidase (COX) deficiency presenting in infancy associated with a deficiency of mtDNA in muscle or other affected tissue (Moraes et al 1991). W...
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Article
Clinical presentation of mitochondrial disorders in childhood
Respiratory-chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only i...
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Chapter
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes
Human cultured cells are widely used for the investigation of respiratory chain disorders. Oxidative properties are generally investigated by means of polarographic studies carried out on detergent-permeabiliz...
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Article
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes
Human cultured cells are widely used for the investigation of respiratory chain disorders. Oxidative properties are generally investigated by means of polarographic studies carried out on detergent-permeabiliz...
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Article
Limited flexibility of the inter-protofilament bonds in microtubules assembled from pure tubulin
The superposition of the regular arrangement of tubulin subunits in microtubules gives rise to moiré patterns in cryo-electron micrographs. The moiré period can be predicted from the dimensions of the tubulin...
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Article
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia
Based on the study of three unrelated families, we report what we believe to be the first in vivo evidence of muscle ATPase deficiency in individuals carrying the neurogenic weakness, ataxia and retinitis pig...
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Article
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
Succinate dehydrogenase (SDH) deficiency represents a minor cause of Leigh syndrome (LS). Noticeably, the first mutation in a nuclear-encoded respiratory chain component, a mutation in the 5p15 copy of the fl...
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Article
Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities
Summary: Mitochondrial oxidative phosphorylation (OXPHOS) is fundamental in all aspects of cellular life in aerobic cells and organisms. It is therefore not surprising that a variety of diseases ...
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Article
Cardiolipin deficiency releases cytochrome c from the inner mitochondrial membrane and accelerates stimuli-elicited apoptosis
Cardiolipin (CL) is a mitochondria-specific phospholipid synthesized by CL synthase (CLS). We describe here a human gene for CLS and its analysis via RNAi knockdown on apoptotic progression. Although mitochond...
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Article
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B12 presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal mu...
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Article
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency
Despite advanced knowledge on the genetic basis of oxidative phosphorylation-related diseases, the molecular and/or cellular determinants for tissue-specific dysfunction are not completely understood. Here, we...
