×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
14765537
2003
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome .
12616398
2003
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
14749350
2004
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy.
18396137
2008
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Loss of murine Ndufs4 , which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS .
22653057
2012
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome .
22326555
2012
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
24020637
2014
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Proteomics. Tissue-based map of the human proteome.
25613900
2015
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
We concluded that NDUFS4 -related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death.
27079373
2016
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Structure of mammalian respiratory complex I.
27509854
2016
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
27671926
2017
×
Entrez Id:
4724
Gene Symbol:
NDUFS4
NDUFS4
Leigh Disease
1.000
Biomarker
CLINGEN
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.
29590638
2018