Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.Q522K
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NDUFS1

NM_005006.7:p.Q522K

Associated Papers

Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.

Dar GM et al.

Ageing Research Reviews, 2023

Pharmacological NAD-Boosting Strategies Improve Mitochondrial Homeostasis in Human Complex I-Mutant Fibroblasts.

Felici R et al.

Molecular Pharmacology, 2015

Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.

Papa S et al.

Febs Letters, 2012

Mitochondrial Oxidative Stress due to Complex I Dysfunction Promotes Fibroblast Activation and Melanoma Cell Invasiveness.

Taddei ML et al.

Journal of Signal Transduction, 2012

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

Hoefs SJ et al.

Molecular Genetics and Metabolism, 2010

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.

Papa S et al.

Biochimica Et Biophysica Acta, 2009

Superoxide production is inversely related to complex I activity in inherited complex I deficiency.

Verkaart S et al.

Biochimica Et Biophysica Acta, 2007

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.

Iuso A et al.

The Journal of Biological Chemistry, 2006

Clinical and molecular findings in children with complex I deficiency.

Bugiani M et al.

Biochimica Et Biophysica Acta, 2004

Mutations in structural genes of complex I associated with neurological diseases.

Scacco S et al.

The Italian Journal of Biochemistry, 0

Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.

Koopman WJ et al.

Biochimica Et Biophysica Acta, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."