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A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
The data suggest that the combined heterozygosity for the two MTHFR common mutations accounts for a proportion of folate-related NTDs, which is not explained by homozygosity by the 677(C-->T) mutation, and can be an additional genetic risk factor for N TDs. Expand
Adverse effects of reverse transcriptase inhibitors: mitochondrial toxicity as common pathway
Although the introduction of protease inhibitors has changed management of HIV infection drastically, this cerebro-protective property will assert the role of these nucleo-side RT inhibitors (NRTI) as a cornerstone ofantiretroviral therapy. Expand
The genetics and pathology of oxidative phosphorylation
The mitochondrial oxidative phosphorylation system is the final biochemical pathway in the production of ATP and improvements in this arena have profited from progress in various genome projects, as well as improvements in the ability to create relevant animal models. Expand
Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy
It is postulate that the mitochondrial toxicity of the nucleoside-analogue reverse-transcriptase inhibitors plays an essential part in the development of this lipodystrophy, similar to the role of mitochondrial defects in theDevelopment of multiple symmetrical lipomatosis. Expand
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
It is surprised to find that activities of mitochondrial complexes from fibroblasts and lymphoblasts derived from affected individuals were normal, as determined by different assays. Expand
Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism.
Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.
The role ofCI in mitochondrial functioning; the composition, structure, and biogenesis of CI; regulation of CI function; the role of CI in ROS generation; and adaptive responses to CI deficiency are discussed. Expand
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.
This spectrophotometric assay is reproducible, sensitive, and specific for complex I activity because of its high rotenone sensitivity, and it can be applied successfully to the diagnosis of complex I deficiencies. Expand
Mitochondrial ATP synthase: architecture, function and pathology
Questions remain to be answered regarding the structure of subunits, the function of the rotary nanomotor at a molecular level, and the human complex V assembly process, which will guide physio(patho)logical studies, paving the way for future therapeutic interventions. Expand
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK), confirming the causal nature of AGK deficiency in Sengers syndrome. Expand