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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.
E A, Schon, M H, Grossman
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Mitochondrial Diseases in Childhood
Current Molecular Medicine, 2014Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing.
Ardissone A. +6 more
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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
R I, Sukernik +8 more
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2021
Abstract Primary mitochondrial diseases are a heterogeneous group of disorders that result from defects of the oxidative phosphorylation system of the mitochondria. Often underrecognized, mitochondrial diseases are uncommon (estimated incidence, 1 in 10,000 live births). Mitochondria are double-membrane–bound cytoplasmic organelles whose
Radhika Dhamija +2 more
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Abstract Primary mitochondrial diseases are a heterogeneous group of disorders that result from defects of the oxidative phosphorylation system of the mitochondria. Often underrecognized, mitochondrial diseases are uncommon (estimated incidence, 1 in 10,000 live births). Mitochondria are double-membrane–bound cytoplasmic organelles whose
Radhika Dhamija +2 more
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2014
Mitokondrial DNA'ın (mtDNA), farklı patolojik defektleri, hastalarda farklı bozukluklara neden olur. Genellikle yaşamın erken döneminde ortaya çıkan bu progresif hastalıklar multiorgan tutulumu ile karakterizedir ve bu durum tanıyı zorlaştırır.
Djillali Annane, Diane Friedman
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Mitokondrial DNA'ın (mtDNA), farklı patolojik defektleri, hastalarda farklı bozukluklara neden olur. Genellikle yaşamın erken döneminde ortaya çıkan bu progresif hastalıklar multiorgan tutulumu ile karakterizedir ve bu durum tanıyı zorlaştırır.
Djillali Annane, Diane Friedman
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Primary mitochondrial diseases
Primary mitochondrial diseases (PMDs) are a heterogeneous group of hereditary disorders characterized by an impairment of the mitochondrial respiratory chain. They are the most common group of genetic metabolic disorders, with a prevalence of 1 in 4,300 people.Chiara, Pizzamiglio +2 more
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2020
Abstract Mitochondrial encephalomyopathies are caused by primary defects of the respiratory chain that lead to disturbed generation of adenosine triphosphate by aerobic metabolism. This characteristically impairs the function of high-demand tissues such as the brain, eye, cardiac, and skeletal muscle, as well as endocrine organs.
Patrick F. Chinnery, D.M. Turnbull
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Abstract Mitochondrial encephalomyopathies are caused by primary defects of the respiratory chain that lead to disturbed generation of adenosine triphosphate by aerobic metabolism. This characteristically impairs the function of high-demand tissues such as the brain, eye, cardiac, and skeletal muscle, as well as endocrine organs.
Patrick F. Chinnery, D.M. Turnbull
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Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges
Nature Reviews Neurology, 2022Micol Falabella +4 more
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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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Current opinion in neurology and neurosurgery, 1992
With the discovery of mitochondrial DNA (mtDNA) mutations in different neuromuscular disorders, investigations now seek to clarify how the mutant mtDNA induces biochemical and morphologic defects. In one of the most important approaches human mutant mtDNA is transferred into cells that lack mtDNA to examine the relationship between the amount of mutant
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With the discovery of mitochondrial DNA (mtDNA) mutations in different neuromuscular disorders, investigations now seek to clarify how the mutant mtDNA induces biochemical and morphologic defects. In one of the most important approaches human mutant mtDNA is transferred into cells that lack mtDNA to examine the relationship between the amount of mutant
openaire +3 more sources