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Mitochondrial disease and the heart
Heart, 2016### Learning objectives Mitochondrial diseases (MDs) include a wide range of clinical entities involving tissues that have high energy requirements such as heart, muscle, kidney and the endocrine system1 (figure 1). Defects in mitochondrial DNA (mtDNA) mutations are the most common cause of MDs in adults.2 ,3 However, the nuclear gene defects are ...
Limongelli, Giuseppe +2 more
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Mitochondrial Diseases and Cardiomyopathies
Canadian Journal of Cardiology, 2015Mitochondrial cardiomyopathies are clinically and genetically heterogeneous. An integrative approach encompassing clinical, biochemical, and molecular investigations is required to reach a specific diagnosis. In this review we summarize the clinical and genetic aspects of mitochondrial disorders associated with cardiomyopathy, including disorders of ...
Florin Sasarman +2 more
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Mitochondrial diseases: genetics
BioFactors, 1998According to the now widely-accepted endosymbiont hypothesis, mitochondria are the descendents of a bacterium that was “captured” early in evolution by a proto-eukaryote. Accordingly, this organelle is about the size of a bacterium (i.e., between 1–10 microns), and has many bacteria-like features.
Mark H. Grossman, Eric A. Schon
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DISEASES OF THE MITOCHONDRIAL DNA
Annual Review of Biochemistry, 1992INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes ...
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Journal of Hepatology, 2005
Despite our tendency to overeat, excessive fat accumulation was prevented in the past, as any excess weight soon impaired the physical fitness required to gather food, and to either fight or escape predators or foes. However, for the first time in human history, a large fraction of the population in affluent countries can now concomitantly indulge in ...
Bernard Fromenty, Dominique Pessayre
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Despite our tendency to overeat, excessive fat accumulation was prevented in the past, as any excess weight soon impaired the physical fitness required to gather food, and to either fight or escape predators or foes. However, for the first time in human history, a large fraction of the population in affluent countries can now concomitantly indulge in ...
Bernard Fromenty, Dominique Pessayre
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Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.
Essays in Biochemistry, 2018Mitochondrial diseases present a diagnostic challenge due to their clinical and genetic heterogeneity. Achieving comprehensive molecular diagnosis via a conventional candidate-gene approach is likely, therefore, to be labour- and cost-intensive given the
S. L. Stenton, H. Prokisch
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Mitochondrial Diseases of the Brain
Free Radical Biology and Medicine, 2013Neurodegenerative disorders are debilitating diseases of the brain, characterized by behavioral, motor and cognitive impairments. Ample evidence underpins mitochondrial dysfunction as a central causal factor in the pathogenesis of neurodegenerative disorders including Parkinson's disease, Huntington's disease, Alzheimer's disease, Amyotrophic lateral ...
M. Flint Beal +2 more
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Models of mitochondrial disease
2002Publisher Summary This chapter discusses the molecular mechanisms of disease pathogenesis and describes cell and animal models of respiratory-chain disease. The models that have been developed can be used to address a number of different issues: to demonstrate whether the cause of a given respiratory-chain disease is because of a nuclear or a ...
Michael G. Hanna, Danae Liolitsa
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Mitochondrial Genetics and Disease
Journal of Child Neurology, 2014Mitochondrial disease resulting in reduced bioenergetic output can be due to mutations in either nuclear DNA–encoded or mitochondrial DNA–encoded gene products. We summarize some of the underlying principles of mitochondrial genetics that impact the diagnosis and pathogenesis of mitochondrial disorders.
Estela Area-Gomez, Eric A. Schon
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In this review the author describes the current knowledge about mitochondrial diseases (mitochondrial myopathies, mitochondrial encephalomyopathies and mitochondrial cardiomyopathies) in both clinical and experimental medicine. This description concerns historical development of mitochondrial diseases, biochemical alterations and genetic disturbances ...
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