Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
about
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaRespiratory chain complex I deficiencyMutants of Chlamydomonas reinhardtii deficient in mitochondrial complex I: characterization of two mutations affecting the nd1 coding sequencealpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutationFunctional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial ActivityData mining of NCI's anticancer screening database reveals mitochondrial complex I inhibitors cytotoxic to leukemia cell lines.Mitochondrial medicine--recent advances.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.Leber hereditary optic neuropathyMitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Ocular motility in North Carolina autosomal dominant ataxia.A giant molecular proton pump: structure and mechanism of respiratory complex I.The mitochondrial complex I activity is reduced in cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function.Cell and animal models of mtDNA biology: progress and prospects.ROS-triggered phosphorylation of complex II by Fgr kinase regulates cellular adaptation to fuel useLHON: Mitochondrial Mutations and More.Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutationThe NADH:ubiquinone oxidoreductase (complex I) of respiratory chains.Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.Next-generation sequencing of mitochondrial targeted AAV transfer of human ND4 in mice.Inherited mitochondrial optic neuropathies.CFTR activity and mitochondrial function.Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.Mitochondrial optic neuropathy: In vivo model of neurodegeneration and neuroprotective strategies.Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenaseCells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis.Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product.Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency.Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy.Major changes in complex I activity in mitochondria from aged rats may not be detected by direct assay of NADH:coenzyme Q reductase.Mitochondrial gene mutations and human diseases: a prolegomenon.Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Distal genes of the nuo operon of Rhodobacter capsulatus equivalent to the mitochondrial ND subunits are all essential for the biogenesis of the respiratory NADH-ubiquinone oxidoreductase.The 49-kDa subunit of NADH-ubiquinone oxidoreductase (Complex I) is involved in the binding of piericidin and rotenone, two quinone-related inhibitors.Complex I impairment, respiratory compensations, and photosynthetic decrease in nuclear and mitochondrial male sterile mutants of Nicotiana sylvestris.N-acetyl cysteine reverts the proinflammatory state induced by cigarette smoke extract in lung Calu-3 cells.
P2860
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P2860
Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@ast
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@en
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@nl
type
label
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@ast
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@en
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@nl
prefLabel
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@ast
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@en
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@nl
P2093
P1433
P1476
Electron transfer properties o ...... optic neuroretinopathy (LHON)
@en
P2093
A Majander
E Nikoskelainen
K Huoponen
M L Savontaus
M Wikström
P304
P356
10.1016/0014-5793(91)80886-8
P407
P577
1991-11-04T00:00:00Z