Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE Mice lacking the mitochondrial complex I (CI) subunit Ndufs4 ( Ndufs4<sup>-/-</sup>) develop a fatal progressive encephalopathy and serve as a model for Leigh syndrome, the most common mitochondrial disease in children. 30520688 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 GeneticVariation disease BEFREE We previously showed that breathing chronic, continuous hypoxia can prevent and even reverse neurological disease in the Ndufs4 knockout (KO) mouse model of complex I (CI) deficiency and Leigh syndrome. 31402314 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE A popular mouse model of mitochondrial disease that lacks NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4), a subunit of mitochondrial complex I, phenocopies many traits of the human disease Leigh syndrome, including the development of optic atrophy. 31248988 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE The first animal LS model was designed based on NDUFS4 knockdown. 31273716 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease CLINGEN Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model. 29590638 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease CLINGEN A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. 27671926 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 <sup>-/-</sup> mice, a mammalian model for Leigh Disease. 28916769 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE Mice lacking Ndufs4, encoding NADH: ubiquinone oxidoreductase iron-sulfur protein 4 (NDUFS4) recapitulates the main findings of complex I (cI)-related LS, including severe multisystemic cI deficiency and progressive neurodegeneration. 28753212 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE Here we tested whether disruption of S6K1 can recapitulate the beneficial effects of mTORC1 inhibition in the Ndufs4 knockout (NKO) mouse model of Leigh Syndrome caused by Complex I deficiency. 28919908 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE We first designed a single guide RNA (sgRNA) targeting exon 2 of <i>Ndufs4</i> to delete the NDUFS4 protein in mouse embryos to mimic Leigh syndrome. 28533980 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 GeneticVariation disease BEFREE A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. 27671926 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE Succination is Increased on Select Proteins in the Brainstem of the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) Knockout Mouse, a Model of Leigh Syndrome. 26450614 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease BEFREE Knocking out Ndufs4, either systemically or in brain only, elicits LS in mice. 26824698 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease 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
1.000 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease 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
1.000 CausalMutation disease CLINVAR 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
1.000 Biomarker disease GENOMICS_ENGLAND 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
1.000 Biomarker disease BEFREE NDUFS4 was previously correlated to Leigh syndrome since mutations in this gene block the assembly of complex I. 24295889 2014
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE Humans diagnosed with mutations in the gene NDUFS4, encoding a nuclear DNA-encoded subunit of CI (NADH dehydrogenase ubiquinone Fe-S protein 4), typically suffer from Leigh syndrome, a neurodegenerative disease with onset in infancy or early childhood. 22535952 2012
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
1.000 Biomarker disease 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
1.000 AlteredExpression disease BEFREE 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