×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
In conclusion, we identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study.
30140060
2018
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
GeneticVariation
disease
BEFREE
In conclusion, we identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study.
30140060
2018
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
GeneticVariation
disease
BEFREE
Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome .
30266949
2018
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles.
28683319
2017
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
BEFREE
Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.
24028823
2013
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells.
23519235
2013
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
22653752
2012
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
22200994
2012
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
GENOMICS_ENGLAND
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
19167255
2009
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death.
18485875
2008
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.
18826940
2008
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1.
17267560
2007
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
GeneticVariation
disease
BEFREE
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome .
14729820
2004
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
While mutations in the NDUFS3 gene thus result in Leigh syndrome , a dissimilar clinical phenotype is observed in mutations in the NDUFV2 and NDUFS2 genes, resulting in encephalomyopathy and cardiomyopathy.
14729820
2004
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CTD_human
While mutations in the NDUFS3 gene thus result in Leigh syndrome , a dissimilar clinical phenotype is observed in mutations in the NDUFV2 and NDUFS2 genes, resulting in encephalomyopathy and cardiomyopathy.
14729820
2004
×
Entrez Id:
4722
Gene Symbol:
NDUFS3
NDUFS3
0.640
Biomarker
disease
CLINGEN
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
9878551
1998