Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles.
|
28683319 |
2017 |
Leigh Disease
|
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 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1.
|
17267560 |
2007 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
BEFREE |
Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type.
|
24028823 |
2013 |
Leigh Disease
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death.
|
18485875 |
2008 |
Leigh Disease
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.
|
30266949 |
2018 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
|
9878551 |
1998 |
Leigh Disease
|
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 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Mitochondrial NDUFS3 regulates the ROS-mediated onset of metabolic switch in transformed cells.
|
23519235 |
2013 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
|
22653752 |
2012 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
CLINGEN |
Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells.
|
18826940 |
2008 |
Leigh Disease
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
|
19167255 |
2009 |
Leigh Disease
|
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 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
|
19167255 |
2009 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
|
19167255 |
2009 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|