NDUFS4 Antibody, FITC conjugated

1. The clinical presentations of five individuals of Hutterite descent with Leigh disease are described herein. An identity-by-descent mapping and candidate gene approach was used to identify a novel homozygous c.393dupA frameshift mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4) gene. PMID: 27671926
2. The authors concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. PMID: 27079373
3. The c.462delA deletion led to a complete lack of NDUFS4 peptide in isolated mitochondria, and this deficiency caused an inefficient mitochondrial complex I assembly and Leigh syndrome symptoms. PMID: 24020637
4. Mutations in the NDUFS4 gene and its subunits are associated with the mitochondrial complex I deficiency. (Review) PMID: 23378164
5. Elevated expression of CO I and ND4 were associated with gastric tumorigenesis and tumor dedifferentiation PMID: 22407105
6. Studies indicate that that the functional capacity of complex I depends on phosphorylation and import of subunit NDUFS4 protein. PMID: 21945319
7. In fibroblast cultures, protein kinase A-mediated phosphorylation of the NDUFS4 subunit of complex I rescues the activity of the oxidatively damaged complex. PMID: 22198267
8. case Report: A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. PMID: 19107570
9. REVIEW: Phosphorylation of the NDUFS4 protein, overall respiratory activity, and mutations sassociated with deficiency of complex I. PMID: 11860175
10. In patients with complex I deficiency, the increased whole-body oxygen consumption rate at rest reflects increased electron transport through the respiratory chain, driven by a decreased phosphorylation potential. PMID: 11940698
11. observations show the essential role of the 18-kDa subunit of respiratory complex I (NDUFS4) gene in the structure and function of complex I and give insight into pathogenic mechanism of NDUFS4 gene mutations in a severe defect of complex I PMID: 12944388
12. A nonsense mutation leading to the abrogation of mRNA decay was found in NDUFS4 gene of a Leigh syndrome patient. PMID: 15975579
13. NDUSF4 is required for the assembly and stabilization of a portion of complex I that contains a number of subunits. PMID: 17438127
14. impact of PKA mediated phosphorylation on the mitochondrial import of in vitro and in vivo synthesized NDUFS4 protein PMID: 18291624
15. regulation of alternative transcripts of the NDUFS4 gene of complex I of the respiratory chain PMID: 18555024
16. NDUFS4 presents a hotspot of mutations in the genetic apparatus of oxidative phosphorylation and the correct assembly of the subunit it encodes is essential for completion of the assembly of complex I. PMID: 19364667

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HGNC: 7711

OMIM: 252010

KEGG: hsa:4724

STRING: 9606.ENSP00000296684

UniGene: Hs.528222