Results 281 to 290 of about 1,199,861 (319)
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Mitochondrial Encephalomyopathies☆
2009Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our knowledge and understanding of these diseases is progressing rapidly. We owe to Luft et al. (1962) the first description of this type of diseases.
A, Lombes, E, Bonilla, S, Dimauro
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The mitochondrial genome and mitochondrial muscle disorders
Current Opinion in Pharmacology, 2001Mitochondrial disorders represent a multitude of clinically heterogeneous diseases in which the genetic abnormality can involve either a mitochondrial or nuclear gene. In addition to inherited defects, somatic mitochondrial DNA mutations have been implicated in the pathogenesis of neurodegenerative disease, cancer and the ageing process.
A M, Schaefer +2 more
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Basic Research in Cardiology, 2003
Mitochondria in largely postmitotic cells (e.g. cardiomyocytes, neurons or skeletal muscle myotubes) have a limited life span of a few weeks. Their replacement during normal turnover requires an intergenomic coordination between the mitochondrial genome (mtDNA, encoding for 13 protein subunits of the respiratory chain, two mitochondrial rRNAs and the ...
M, Szibor, J, Holtz
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Mitochondria in largely postmitotic cells (e.g. cardiomyocytes, neurons or skeletal muscle myotubes) have a limited life span of a few weeks. Their replacement during normal turnover requires an intergenomic coordination between the mitochondrial genome (mtDNA, encoding for 13 protein subunits of the respiratory chain, two mitochondrial rRNAs and the ...
M, Szibor, J, Holtz
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The International Journal of Biochemistry & Cell Biology, 2004
A novel ferritin type specifically targeted to mitochondria has been recently found in human and mouse. It is structurally and functionally similar to the cytosolic ferritins, well-characterized molecules found in most living systems which are designed to store and detoxify cellular iron.
LEVI S, AROSIO, Paolo
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A novel ferritin type specifically targeted to mitochondria has been recently found in human and mouse. It is structurally and functionally similar to the cytosolic ferritins, well-characterized molecules found in most living systems which are designed to store and detoxify cellular iron.
LEVI S, AROSIO, Paolo
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Mitochondrial Pseudomyasthenia
Journal of Neuro-Ophthalmology, 2010The classic ocular motor presentation of mitochondrial disorders is chronic, symmetric, and diffuse weakness. We describe a man with 25 years of asymmetric ptosis, ophthalmoparesis, and facial weakness that partially responded to steroid therapy. Serologic and electrophysiological investigations for myasthenia gravis were negative, but muscle biopsy ...
Jason J S, Barton +4 more
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Acta Physiologica Scandinavica, 2001
The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
N G, Larsson, A, Oldfors
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Journal of Internal Medicine, 1995
Abstract.In the mitochondrion, inherited defects have been identified in the electron transport system by which ATP is formed, as well as in the transport and metabolism of fuels. Clinical findings in diseases due to these defects can be related to abnormal accumulations of metabolic intermediates and inadequate or inefficient ATP generation.
R, Luft, B R, Landau
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Abstract.In the mitochondrion, inherited defects have been identified in the electron transport system by which ATP is formed, as well as in the transport and metabolism of fuels. Clinical findings in diseases due to these defects can be related to abnormal accumulations of metabolic intermediates and inadequate or inefficient ATP generation.
R, Luft, B R, Landau
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Nucleo-Mitochondrial Interactions in Mitochondrial Gene Expression
Critical Reviews in Biochemistry and Molecular Biology, 1995All proteins encoded by mitochondrial DNA (mtDNA) are dependent on proteins encoded by nuclear genes for their synthesis and function. Recent developments in the identification of these genes and the elucidation of the roles their products play at various stages of mitochondrial gene expression are covered in this review, which focuses mainly on work ...
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Biochemistry (Moscow), 2007
Many functions of mitochondrial GSH are significantly different from those of cytosolic GSH. This review considers the peculiarity of functions of mitochondrial GSH and enzymes of its metabolism, especially glutathione peroxidase 4, glutaredoxin 2, and kappa-glutathione transferase.
V I, Kulinsky, L S, Kolesnichenko
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Many functions of mitochondrial GSH are significantly different from those of cytosolic GSH. This review considers the peculiarity of functions of mitochondrial GSH and enzymes of its metabolism, especially glutathione peroxidase 4, glutaredoxin 2, and kappa-glutathione transferase.
V I, Kulinsky, L S, Kolesnichenko
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