Recombinant Human NADH-ubiquinone oxidoreductase chain 3 (MT-ND3)

1. Disruption of FASTKD1 increases ND3 mRNA level. Disruption of FASTKD4 reduces it. Very low levels of FASTKD4 are sufficient to prevent ND3 loss. PMID: 28335001
2. In the current study, we first took clinical and molecular datasets from case-control studies to determine the association between the ND3 G10398A mutation and breast cancer. PMID: 26782384
3. Earlier age at onset was noted in male Chinese Machado-Joseph disease patients with MT-ND3 gene 10398A polymorphism PMID: 26336829
4. The 10398G allele and Haplogroup I appear to confer significant protective effects for Fuchs endothelial corneal dystrophy PMID: 24917144
5. Hypoxia, oxidative stress, and saturated fatty acids impacted mitochondrial-mediated cell apoptosis and had promotion on MT-ND3 expression in hepatocytes. PMID: 24020820
6. Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency. PMID: 22947169
7. this short clinical review we evaluate the case reports of the m.10191T>C mutation causing complex I-deficient Leigh syndrome described in the literature. PMID: 22364517
8. mitochondrial ND3 gene mutation may have a role in causing in Leigh syndrome with early lethality PMID: 14764913
9. This is the first description of infantile Leigh syndrome due to a maternally transmitted T10191C substitution in ND3 and not due to a de novo mutation. PMID: 16023078
10. These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for Leigh syndrome and dystonia. PMID: 17152068
11. study reports a novel heteroplasmic m.10197G>A mutation in the ND3 gene in three Korean children with bilateral basal ganglia lesions and partial deficiencies of respiratory chain complex I activity PMID: 17413873
12. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome. PMID: 19458970
13. 2 cases with a MELAS-like phenotype with additional unique features of epilepsia partialis continua accompanied by evolving lesions of the rolandic & calcarine cortices; both carried mutations in the MT-ND3 gene -- mt.10158T>C & mt.10191T>C PMID: 19520270
14. mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes PMID: 19617458

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HGNC: 7458

OMIM: 252010

KEGG: hsa:4537

STRING: 9606.ENSP00000355206