scholarly article | Q13442814 |
P2093 | author name string | M Zeviani | |
S Papa | |||
R Vergari | |||
V Petruzzella | |||
D Boffoli | |||
I Puzziferri | |||
E Lamantea | |||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | patient | Q181600 |
response to cAMP | Q14599787 | ||
NADH:ubiquinone oxidoreductase subunit S4 | Q21120100 | ||
molecular mass | Q182854 | ||
P304 | page(s) | 529-35 | |
P577 | publication date | 2001-03-01 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | 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 | |
P478 | volume | 10 |
Q24536088 | A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy |
Q45817648 | A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family |
Q38650384 | AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. |
Q36239807 | Antibody-based approaches to diagnosis and characterization of oxidative phosphorylation diseases |
Q38078887 | Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. |
Q24307521 | Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I |
Q27342864 | Complex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathy |
Q33665573 | DNA methylation status of nuclear-encoded mitochondrial genes underlies the tissue-dependent mitochondrial functions |
Q24304454 | Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I |
Q24799692 | Estrogen, mitochondria, and growth of cancer and non-cancer cells |
Q36070987 | Fatal breathing dysfunction in a mouse model of Leigh syndrome |
Q46960424 | Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase |
Q35912064 | Genetic reduction of mitochondrial complex I function does not lead to loss of dopamine neurons in vivo |
Q28180532 | Genotyping 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 |
Q91231271 | Heart specific knockout of Ndufs4 ameliorates ischemia reperfusion injury |
Q34136223 | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency |
Q40132534 | Identification of key genes in Gram‑positive and Gram‑negative sepsis using stochastic perturbation |
Q52319895 | Isoflurane disrupts excitatory neurotransmitter dynamics via inhibition of mitochondrial complex I. |
Q55235450 | Metabolic etiologies in West syndrome. |
Q30484862 | Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy |
Q35190973 | Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors |
Q33709353 | Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice |
Q37964862 | Mitochondrial complex I deficiency of nuclear origin I. Structural genes |
Q37428322 | Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. |
Q36937206 | Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat. |
Q36534792 | Mitochondrial complex I: structure, function and pathology |
Q36765849 | Mitochondrial diseases: a nosological update. |
Q82029875 | Mitochondrial encephalomyopathies |
Q24302105 | Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy |
Q34594206 | Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene |
Q28258107 | Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants |
Q37440629 | NDUFS4: creation of a mouse model mimicking a Complex I disorder |
Q36203487 | Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. |
Q36184704 | Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. |
Q47988632 | Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. |
Q35689631 | Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. |
Q33412371 | PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease |
Q28204082 | Pathological 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 |
Q28579972 | 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) gene |
Q46149031 | Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects |
Q35908395 | Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse Brain |
Q38018051 | Research on plants for the understanding of diseases of nuclear and mitochondrial origin |
Q37938299 | Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases |
Q24319013 | Respiratory complex I in brain development and genetic disease |
Q46687113 | Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy. |
Q45711447 | Serine (threonine) phosphatase(s) acting on cAMP-dependent phosphoproteins in mammalian mitochondria. |
Q40394633 | Signal 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 |
Q64092444 | Targeting NAD Metabolism as Interventions for Mitochondrial Disease |
Q28203163 | The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade |
Q28220024 | The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade |
Q81110475 | The human complex I NDUFS4 subunit: from gene structure to function and pathology |
Q28588745 | The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress |
Q47161991 | Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. |
Q37408572 | cAMP and mitochondria |
Q24298085 | cAMP controls oxygen metabolism in mammalian cells |