Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The first animal LS model was designed based on NDUFS4 knockdown.
|
31273716 |
2019 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.
|
29590638 |
2018 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
|
27671926 |
2017 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
|
27671926 |
2017 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Leigh Disease
|
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 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Knocking out Ndufs4, either systemically or in brain only, elicits LS in mice.
|
26824698 |
2016 |
Leigh Disease
|
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 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Proteomics. Tissue-based map of the human proteome.
|
25613900 |
2015 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
|
24020637 |
2014 |
Leigh Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
|
24020637 |
2014 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
|
24020637 |
2014 |
Leigh Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
|
24020637 |
2014 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |
Leigh Disease
|
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 |