Results 361 to 370 of about 10,050,443 (381)
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Mitochondrial diseases caused by dysfunctional mitochondrial protein import.
Biochemical Society Transactions, 2018Mitochondria are essential organelles which perform complex and varied functions within eukaryotic cells. Maintenance of mitochondrial health and functionality is thus a key cellular priority and relies on the organelle's extensive proteome.
Thomas D. Jackson +2 more
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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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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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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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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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The Mitochondrial Genome And Human Mitochondrial Diseases
Journal of the Peripheral Nervous System, 2002To date, more than 100 point mutations and several hundreds of structural rearrangements of mitochondrial DNA (mtDNA) are known too be connected with characteristic neuromuscular and other mitochondrial syndromes varying from those causing death at the neonatal stage to diseases with late ages of onset. The immediate cause of mitochondrial disorders is
Rem I. Sukernik +8 more
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Mitochondrial diseases of muscle
Current Opinion in Neurology, 1994This review of the current literature focuses on three main topics: 1) new disease-associated mitochondrial DNA mutations, 2) new mitochondrial DNA disease phenotypes, and 3) mechanisms of inheritance and disease pathogenesis.
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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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Autism and mitochondrial disease
Developmental Disabilities Research Reviews, 2010AbstractAutism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors ...
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Cardiac complications in inherited mitochondrial diseases
Heart Failure Reviews, 2020M. Behjati +3 more
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