A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
about
cAMP controls oxygen metabolism in mammalian cellsMutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyDysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex IA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Estrogen, mitochondria, and growth of cancer and non-cancer cellsComplex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathyPathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complexMutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variantsProteomic 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.PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease.DNA methylation status of nuclear-encoded mitochondrial genes underlies the tissue-dependent mitochondrial functionsMitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice.High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencyMitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse BrainGenetic reduction of mitochondrial complex I function does not lead to loss of dopamine neurons in vivoFatal breathing dysfunction in a mouse model of Leigh syndromeNovel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Mitochondrial diseases: a nosological update.Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat.cAMP and mitochondria.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.NDUFS4: creation of a mouse model mimicking a Complex I disorder.Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.Research on plants for the understanding of diseases of nuclear and mitochondrial origin.Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.Identification of key genes in Gram‑positive and Gram‑negative sepsis using stochastic perturbation.Serine (threonine) phosphatase(s) acting on cAMP-dependent phosphoproteins in mammalian mitochondria.A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase.Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Metabolic etiologies in West syndrome.
P2860
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P2860
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@ast
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en-gb
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@nl
type
label
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@ast
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en-gb
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@nl
prefLabel
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@ast
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en-gb
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@nl
P2093
P921
P356
P1476
A nonsense mutation in the NDU ...... tient with Leigh-like syndrome
@en
P2093
E Lamantea
I Puzziferri
V Petruzzella
P304
P356
10.1093/HMG/10.5.529
P407
P577
2001-03-01T00:00:00Z