Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseHuman CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause diseaseProteomic 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) geneThe mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stressMice with mitochondrial complex I deficiency develop a fatal encephalomyopathy.A three-dimensional topology of complex I inferred from evolutionary correlations.Maneb-induced dopaminergic neuronal death is not affected by loss of mitochondrial complex I activity: results from primary mesencephalic dopaminergic neurons cultured from individual Ndufs4+/+ and Ndufs4-/- mouse embryos.Subcomplexes of ancestral respiratory complex I subunits rapidly turn over in vivo as productive assembly intermediates in ArabidopsisLoss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson's disease model.Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMitochondrial complex I plays an essential role in human respirasome assembly.Genetic reduction of mitochondrial complex I function does not lead to loss of dopamine neurons in vivoHigh throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant.Assembly factors for the membrane arm of human complex I.Conditional deletion of Ndufs4 in dopaminergic neurons promotes Parkinson's disease-like non-motor symptoms without loss of dopamine neurons.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factor.Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexesMitochondrial complex I assembly model OXPHOS system
P2860
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P2860
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Investigation of the complex I ...... hort of CI deficient patients.
@ast
Investigation of the complex I ...... hort of CI deficient patients.
@en
Investigation of the complex I ...... hort of CI deficient patients.
@nl
type
label
Investigation of the complex I ...... hort of CI deficient patients.
@ast
Investigation of the complex I ...... hort of CI deficient patients.
@en
Investigation of the complex I ...... hort of CI deficient patients.
@nl
prefLabel
Investigation of the complex I ...... hort of CI deficient patients.
@ast
Investigation of the complex I ...... hort of CI deficient patients.
@en
Investigation of the complex I ...... hort of CI deficient patients.
@nl
P2093
P1476
Investigation of the complex I ...... hort of CI deficient patients.
@en
P2093
Jan A M Smeitink
Lambert P W J van den Heuvel
Leo G J Nijtmans
Makoto Tsuneoka
Mariël A M van den Brand
Richard J Rodenburg
Rutger O Vogel
P304
P356
10.1016/J.YMGME.2007.02.007
P577
2007-03-26T00:00:00Z