Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect
about
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndromecAMP controls oxygen metabolism in mammalian cellsNDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex IMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseHuman mitochondrial complex I in health and diseaseSupercomplexes in the respiratory chains of yeast and mammalian mitochondriaThe NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondriaMutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cellsMitochondria-controlled signaling mechanisms of brain protection in hypoxiaRespiratory chain complex I deficiencyDeficiency in the inner mitochondrial membrane peptidase 2-like (Immp21) gene increases ischemic brain damage and impairs mitochondrial functionMitochondrial disease in superoxide dismutase 2 mutant micec-Myc and AMPK Control Cellular Energy Levels by Cooperatively Regulating Mitochondrial Structure and FunctionMice with mitochondrial complex I deficiency develop a fatal encephalomyopathy.Disruption of interleukin-1β autocrine signaling rescues complex I activity and improves ROS levels in immortalized epithelial cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function.Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts.Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.Mitochondrial reactive oxygen species (ROS) and ROS-induced ROS release.Mining yeast in silico unearths a golden nugget for mitochondrial biologySpecies-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.Mitochondrial myopathies and the role of the pathologist in the molecular era.Introduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans.A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.Clinical spectrum and diagnosis of mitochondrial disorders.Mitochondria, oxygen free radicals, and apoptosis.GeneFriends: an online co-expression analysis tool to identify novel gene targets for aging and complex diseases.Proton pumping by NADH:ubiquinone oxidoreductase. A redox driven conformational change mechanism?Therapeutics against mitochondrial oxidative stress in animal models of aging.ROS-triggered phosphorylation of complex II by Fgr kinase regulates cellular adaptation to fuel useRespiratory chain complex I deficiency caused by mitochondrial DNA mutations.Mitochondrial production of oxygen radical species and the role of Coenzyme Q as an antioxidant.Eight proteins play critical roles in RCC with bone metastasis via mitochondrial dysfunctionCell-permeable succinate prodrugs bypass mitochondrial complex I deficiencyAssociation of mitochondrial DNA 10398 polymorphism in invasive breast cancer in malay population of peninsular malaysia.NADH-quinone oxidoreductase: PSST subunit couples electron transfer from iron-sulfur cluster N2 to quinone.Specific polymorphic variation in the mitochondrial genome and increased in-hospital mortality after severe trauma.Apoptosis-Inducing-Factor-Dependent Mitochondrial Function Is Required for T Cell but Not B Cell Function.Updating the mitochondrial free radical theory of aging: an integrated view, key aspects, and confounding concepts.
P2860
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P2860
Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Human complex I deficiency: cl ...... he pathogenicity of the defect
@ast
Human complex I deficiency: cl ...... he pathogenicity of the defect
@en
Human complex I deficiency: cl ...... he pathogenicity of the defect
@nl
type
label
Human complex I deficiency: cl ...... he pathogenicity of the defect
@ast
Human complex I deficiency: cl ...... he pathogenicity of the defect
@en
Human complex I deficiency: cl ...... he pathogenicity of the defect
@nl
prefLabel
Human complex I deficiency: cl ...... he pathogenicity of the defect
@ast
Human complex I deficiency: cl ...... he pathogenicity of the defect
@en
Human complex I deficiency: cl ...... he pathogenicity of the defect
@nl
P3181
P1476
Human complex I deficiency: cl ...... he pathogenicity of the defect
@en
P2093
B H Robinson
P304
P3181
P356
10.1016/S0005-2728(98)00033-4
P407
P577
1998-05-06T00:00:00Z