Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
|
20382551 |
2010 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain.
|
15186778 |
2004 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
|
25615419 |
2015 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.
|
1935949 |
1991 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
|
9878551 |
1998 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
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: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
|
21203893 |
2011 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.
|
21458341 |
2011 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
|
11349233 |
2001 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
High-throughput discovery of novel developmental phenotypes.
|
27626380 |
2016 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
|
24952175 |
2014 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
Leigh Disease
|
0.520 |
Biomarker |
CLINGEN |
IpaB of Shigella flexneri causes entry into epithelial cells and escape from the phagocytic vacuole.
|
1582426 |
1992 |