NDUFA1 Antibody

1. Results from a study on gene expression variability markers in early-stage human embryos shows that NDUF1A is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
2. The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls. PMID: 27177495
3. Fanconi anemia complementation group A mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio. PMID: 23791750
4. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency PMID: 21596602
5. Mutations in the NDUFA1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders. PMID: 20153825
6. Species-specific and mutant MWFE proteins effect on the assembly of a functional mammalian mitochondrial complex I. PMID: 11937507
7. A family-based association study finds that the NDUFA1 gene is unlikely to harbor a major visual loss susceptibility locus for Leber hereditary optic neuropathy. PMID: 12084895
8. Oxidative stress and partial deficiencies of mitochondrial complex I are key factors in the pathogenesis of Parkinson's disease. (REVIEW) PMID: 15038604
9. Suppression of NDUFA1 expression could represent a key pathogenic mechanism in the development of basal cell carcinoma PMID: 15854127
10. Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay. PMID: 17262856
11. hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants PMID: 19185523

Show More

Hide All

HGNC: 7683

OMIM: 252010

KEGG: hsa:4694

STRING: 9606.ENSP00000360492

UniGene: Hs.534168