Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Y278C
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SDS

NM_006843.3:p.Y278C

Associated Papers

Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III.

Tropeano CV et al.

Biochimica Et Biophysica Acta. Bioenergetics, 2020

Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.

Tropeano CV et al.

Biochimica Et Biophysica Acta. Bioenergetics, 2018

Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b gene.

Iommarini L et al.

Human Mutation, 2018

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.

Ghelli A et al.

Human Molecular Genetics, 2013

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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."