×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
GeneticVariation
disease
BEFREE
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
15824269
2005
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
CLINGEN
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
24952175
2014
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
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
0.520
Biomarker
disease
GENOMICS_ENGLAND
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
0.520
Biomarker
disease
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
0.520
Biomarker
disease
CLINGEN
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.
21458341
2011
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
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
0.520
Biomarker
disease
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
0.520
Biomarker
disease
CLINGEN
High-throughput discovery of novel developmental phenotypes.
27626380
2016
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
CLINGEN
IpaB of Shigella flexneri causes entry into epithelial cells and escape from the phagocytic vacuole.
1582426
1992
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
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
0.520
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:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
Biomarker
disease
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
0.520
Biomarker
disease
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
0.520
GeneticVariation
disease
BEFREE
These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome , a previously identified NDUFS8 mutation (c.236C>T, p.P79L ) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome.
20819849
2010
×
Entrez Id:
4719
Gene Symbol:
NDUFS1
NDUFS1
0.520
GeneticVariation
disease
LHGDN
To describe a Spanish family with LS , complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene.
15824269
2005