Mitochondrial respiratory chain
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Ebook "Mitochondrial oxidative phosphorylation: Nuclear-encoded genes, enzyme regulation, and pathophysiology" focuses on new developments in mitochondrial morphology, biogenesis, and evolution, as well as in structure and regulatory functions of the enzyme complexes of OxPhos by experts in their fi elds. Particular emphasis is given to the oxygen consuming enzyme of the respiratory chain, cytochrome c oxidase, representing a controlling step of OxPhos.
378p tracanhphuonghoa1007 22-04-2024 3 2 Download
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Mitochondrial myopathies represent a group of disorders caused by mitochondrial defects that disrupt energy production. Most patients have issues from infancy to early childhood. Pregnancy in women with mitochondrial myopathy is uncommon and the management for these parturients is full of challenges.
3p viottohahn 30-03-2022 8 1 Download
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Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in western countries.
6p viorochimaru2711 29-05-2020 18 1 Download
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Uncoupling proteins (UCPs) are anion channels that can decouple the mitochondrial respiratory chain. "Mild uncoupling" of internal respiration reduces free radical production and oxidative cell stress.
5p vivalletta2711 11-01-2020 13 1 Download
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Microphthalmia with linear skin defects (MLS) syndrome is a rare neurodevelopmental X-dominant disorder. It presents in females as it is normally lethal in males. Three causative genes for MLS syndrome (OMIM 309801) have been identified all taking part in mitochondrial respiratory chain and oxidative phosphorylation.
5p vidublin2711 13-01-2020 14 0 Download
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The diagnosis of mitochondrial diseases is a real challenge because of the vast clinical and genetic heterogeneity. Classically, the clinical examination and genetic analysis must be completed by several biochemical assays to confirm the diagnosis of mitochondrial disease.
8p vinasaki2711 12-11-2019 13 1 Download
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Mitochondrial cytochromecoxidase is a key protonmotive component of the respiratory chain. Mutations in the mito-chondrially-encoded subunits of the complex have been reported in associationwith a range of diseases. In this work we used yeast and bacterial mutants to assess the effect of humanmutations insubunit 1 (L196I) andsubunit 3 (G78S, A200T,DF94–F98, F251L and W249Stop).
9p tumor12 20-04-2013 33 1 Download
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Whereas the majority of disease-related mitochondrial DNA mutations exhibit significant biochemical and clinical heterogeneity, mutations within the mitochondrially encoded human cytochrome b gene (MTCYB) are almost exclusively associated with isolated complex III deficiency in muscle and a clinical presentation involving exercise intolerance.
10p fptmusic 11-04-2013 33 1 Download
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Three pairs of parental (q + ) and established mitochondrial DNAdepleted (q 0 ) cells, derived frombone, lungandmuscle were used to verify the influence of the nuclear background and the lack of efficient mitochondrial respiratory chain on antioxidant defences and homeostasis of intracellular reactive oxygen species (ROS).
11p awards 05-04-2013 39 2 Download
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A small deletion in the second intron of humanNDUFV2 (IVS2+5_+8delGTAA) has been shown to cause hyper-trophic cardiomyopathy and encephalomyopathy [Be´nit, P., Beugnot, R., Chretien, D., Giurgea, I., de Lonlay-Debeney, P., Issartel, J.P., Kerscher, S., Rustin, P., Ro¨tig, A. & Munnich, A. (2003)Human Mutat.21, 582–586]. Skipping of exon 2 results in a partial deletion of the mitochondrial targeting sequence of the precursor for the 24 kDa subunit of respiratory chain complex I.
8p dell39 03-04-2013 42 2 Download
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The Rieske [2Fe)2S] protein (ISP) is an essential subunit of cyto-chromebc1 complexes in mitochondrial and bacterial respiratory chains. Based on the presence of two consecutive arginines, it was argued that the ISP ofParacoccus denitrificans, a Gram-negative soil bacterium, is inserted into the cytoplasmic membrane via the twin-arginine translocation (Tat) pathway.
14p inspiron33 23-03-2013 36 2 Download
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Mitochondrial cytochromescandc1 are present in all eukaryotes that use oxygen as the terminal electron acceptor in the respiratory chain. Matura-tion of c-type cytochromes requires covalent attachment of the heme cofac-tor to the protein, and there are at least five distinct biogenesis systems that catalyze this post-translational modification in different organisms and organelles.
18p media19 06-03-2013 36 2 Download
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The ATP-binding cassette transporter MDL1 ofSaccharomyces cerevisiae has been implicated in mitochondrial quality control, exporting degradation products of misassembled respiratory chain complexes. In the present study, we identified an unusually long leader sequence of 59 amino acids,
13p media19 04-03-2013 45 1 Download
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Complex IV is the terminal enzyme of the mitochondrial respiratory chain. In humans, biogenesis of complex IV involves the coordinated assembly of 13 subunits encoded by both mitochondrial and nuclear genomes. The early stages of complex IV assembly involving mitochondrial DNA-encoded subunits CO1 and CO2 have been well studied.
13p viettel02 20-02-2013 29 2 Download
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Abstract Complex I is the fi rst enzyme of the respiratory chain and plays a central role in cellular energy production. It has been implicated in many human neurodegenerative diseases, as well as in ageing. One of the biggest membrane protein complexes, varying in size from 0.5 to 1 MDa, it is an L-shaped assembly consisting of hydrophilic and membrane domains. Previously, we determined the structure of the hydrophilic domain in several redox states. It established the pathway for electron transfer from NADH to quinone via seven Fe-S clusters.
280p maket1311 16-10-2012 37 2 Download