NDUFS1 Antibody

1. Results show that NDUFS1 protein and mRNA levels are down-regulated in lung neoplasm and correlate with poor overall survival. PMID: 27516145
2. High NDUFS1 expression is associated with cognitive impairment in lung cancer. PMID: 26987334
3. Results found nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction. PMID: 26053550
4. Loss of FOXRED1, coupled with protein, choline and/or folate-deficient diets results in the depletion of glutathione, the dysregulation of nitric oxide metabolism and the peroxynitrite-mediated inactivation of complex I. PMID: 26235939
5. NDUFS1 may confer susceptibility to schizophrenia in male subjects, acting as a causative factor for the severity of negative symptoms in schizophrenia. PMID: 25354934
6. The presented clinical courses of NDUFV1 and NDUFS1 mutation-based complex I deficiencies are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. PMID: 25615419
7. Some mutations in NDUFS1 cause a milder phenotype with a more benign course despite the initial decompensation phase. Homozygosity for the c.755A > G missense mutation may correlate with the milder clinical picture in the patient. PMID: 24952175
8. The peripheral leukocyte oxidative phosphorylation enzyme activity assay was found to be a reliable method for the diagnosis of mitochondrial diseases. PMID: 21540367
9. A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. PMID: 22360420
10. homozygous c.1783A>G (p.Thr595Ala) mutation in NDUFS1 in two inbred siblings with isolated complex I deficiency associated to a progressive cavitating leukoencephalopathy PMID: 21203893
11. data suggest that gamma oscillations are especially energy demanding and require both high complex I expression and strong functional performance of mitochondria. PMID: 21183487
12. report 3 patients with low residual complex I activity who displayed novel mutations in the NDUFS1 gene. One mutation introduces a premature stop codon, 3 mutations cause a substitution of amino acids and another mutation a deletion of one amino acid. PMID: 20382551
13. Mutations in electron Transport Complex I is associated with Leber hereditary optic neuropathy failing to compensate for impaired oxidative phosphorylation. PMID: 19836344
14. A patient with Leigh syndrome had a mutation in the NDUFS1 protein of Complex I of the Respiratory Chain. Identifying nuclear mutations will help us understand how molecular defects can lead to complex I deficiency. PMID: 15824269
15. mutations in the NDUFS1 and NDUFS4 genes of complex I cause dysfunction in cellular oxidative metabolism PMID: 16478720
16. This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia. PMID: 19405953

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HGNC: 7707

OMIM: 157655

KEGG: hsa:4719

STRING: 9606.ENSP00000392709

UniGene: Hs.471207