High-Resolution Respirometry in Diagnostics of Mitochondrial Diseases Caused by Mitochondrial Complex I Deficiency

Mitochondrial complex I deficiency (CID) is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases. The group is characterized by clinical and genetic heterogeneity and comprises several nosological forms. The most prevalent phenotypes of CID...

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Vydáno v:	Biochemistry (Moscow). Supplement. Series B, Biomedical chemistry Ročník 12; číslo 1; s. 43 - 49
Hlavní autoři:	Krylova, T. D., Tsygankova, P. G., Itkis, Y. S., Sheremet, N. L., Nevinitsyna, T. A., Mikhaylova, S. V., Zakharova, E. Y.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Moscow Pleiades Publishing 01.01.2018 Springer Nature B.V
Témata:	Bioorganic Chemistry Chemistry Chemistry and Materials Science Citrate synthase Electron transport chain Fibroblasts Leigh-like syndrome Medicinal Chemistry Metabolic response Mitochondria Mitochondrial DNA Mutation NADH-ubiquinone oxidoreductase Optic neuropathy Rot Skin Statistical analysis high-resolution respirometry citrate synthase LHON Leigh-like syndrome mitochondrial complex I deficiency
ISSN:	1990-7508, 1990-7516
On-line přístup:	Získat plný text
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