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

scientific article

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 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/10.5.529
P698PubMed publication ID11181577
P5875ResearchGate publication ID277488751

P2093author name stringM Zeviani
S Papa
R Vergari
V Petruzzella
D Boffoli
I Puzziferri
E Lamantea
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
response to cAMPQ14599787
NADH:ubiquinone oxidoreductase subunit S4Q21120100
molecular massQ182854
P304page(s)529-35
P577publication date2001-03-01
P1433published inHuman Molecular GeneticsQ2720965
P1476titleA 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
P478volume10

Reverse relations

cites work (P2860)
Q24536088A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
Q45817648A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
Q38650384AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.
Q36239807Antibody-based approaches to diagnosis and characterization of oxidative phosphorylation diseases
Q38078887Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
Q24307521Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
Q27342864Complex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathy
Q33665573DNA methylation status of nuclear-encoded mitochondrial genes underlies the tissue-dependent mitochondrial functions
Q24304454Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I
Q24799692Estrogen, mitochondria, and growth of cancer and non-cancer cells
Q36070987Fatal breathing dysfunction in a mouse model of Leigh syndrome
Q46960424Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase
Q35912064Genetic reduction of mitochondrial complex I function does not lead to loss of dopamine neurons in vivo
Q28180532Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome
Q91231271Heart specific knockout of Ndufs4 ameliorates ischemia reperfusion injury
Q34136223High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Q40132534Identification of key genes in Gram‑positive and Gram‑negative sepsis using stochastic perturbation
Q52319895Isoflurane disrupts excitatory neurotransmitter dynamics via inhibition of mitochondrial complex I.
Q55235450Metabolic etiologies in West syndrome.
Q30484862Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy
Q35190973Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors
Q33709353Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice
Q37964862Mitochondrial complex I deficiency of nuclear origin I. Structural genes
Q37428322Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
Q36937206Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat.
Q36534792Mitochondrial complex I: structure, function and pathology
Q36765849Mitochondrial diseases: a nosological update.
Q82029875Mitochondrial encephalomyopathies
Q24302105Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
Q34594206Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene
Q28258107Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
Q37440629NDUFS4: creation of a mouse model mimicking a Complex I disorder
Q36203487Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Q36184704Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
Q47988632Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.
Q35689631Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.
Q33412371PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease
Q28204082Pathological 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 complex
Q28579972Proteomic 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) gene
Q46149031Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
Q35908395Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse Brain
Q38018051Research on plants for the understanding of diseases of nuclear and mitochondrial origin
Q37938299Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases
Q24319013Respiratory complex I in brain development and genetic disease
Q46687113Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.
Q45711447Serine (threonine) phosphatase(s) acting on cAMP-dependent phosphoproteins in mammalian mitochondria.
Q40394633Signal transduction to mitochondrial ATP synthase: evidence that PDGF-dependent phosphorylation of the delta-subunit occurs in several cell lines, involves tyrosine, and is modulated by lysophosphatidic acid
Q64092444Targeting NAD Metabolism as Interventions for Mitochondrial Disease
Q28203163The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade
Q28220024The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade
Q81110475The human complex I NDUFS4 subunit: from gene structure to function and pathology
Q28588745The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress
Q47161991Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
Q37408572cAMP and mitochondria
Q24298085cAMP controls oxygen metabolism in mammalian cells