Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
about
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneMice with mitochondrial complex I deficiency develop a fatal encephalomyopathy.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Dose-dependent effects of mTOR inhibition on weight and mitochondrial disease in miceFatal breathing dysfunction in a mouse model of Leigh syndromeNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.AIF deficiency compromises oxidative phosphorylation.Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.Ca2+-mobilizing agonists increase mitochondrial ATP production to accelerate cytosolic Ca2+ removal: aberrations in human complex I deficiency.Loss of Mitochondrial Ndufs4 in Striatal Medium Spiny Neurons Mediates Progressive Motor Impairment in a Mouse Model of Leigh Syndrome.Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency.Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in a Drosophila Model of Leigh Syndrome.Streptozotocin-Induced Adaptive Modification of Mitochondrial Supercomplexes in Liver of Wistar Rats and the Protective Effect of Moringa oleifera Lam.Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.
P2860
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P2860
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
description
2003 nî lūn-bûn
@nan
2003 թուականին հրատարակուած գիտական յօդուած
@hyw
2003 թվականին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@ast
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en-gb
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@nl
type
label
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@ast
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en-gb
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@nl
prefLabel
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@ast
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en-gb
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@nl
P2093
P921
P1476
Clinical heterogeneity in pati ...... ene of mitochondrial complex I
@en
P2093
J A M Smeitink
L P W J van den Heuvel
R J P Smeets
S M S Budde
V Petruzzella
P304
P356
10.1023/B:BOLI.0000010003.14113.AF
P407
P577
2003-01-01T00:00:00Z
P5875
P6179
1041445432