Results 261 to 270 of about 900,621 (290)
Some of the next articles are maybe not open access.
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
+5 more sources
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
openaire +1 more source
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
openaire +1 more source
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
openaire +3 more sources
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
Understanding mitochondrial diseases
Clinical Nutrition, 2017M T, García-Silva +2 more
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Der Nervenarzt, 2019
Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis
Florentine, Radelfahr, Thomas, Klopstock
openaire +1 more source
Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis
Florentine, Radelfahr, Thomas, Klopstock
openaire +1 more source
Glycerol-3-phosphate biosynthesis regenerates cytosolic NAD+ to alleviate mitochondrial disease
Cell Metabolism, 2021Shanshan Liu, Guodong Wang, Hui Jiang
exaly
The assembly, regulation and function of the mitochondrial respiratory chain
Nature Reviews Molecular Cell Biology, 2021Irene Vercellino, Leonid A Sazanov
exaly
New roles for mitochondrial proteases in health, ageing and disease
Nature Reviews Molecular Cell Biology, 2015Pedro M Quiros +2 more
exaly