Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (gene SQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pathogenic variants in SQOR. Exome sequencing identified variants; SQOR enz...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood‐Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7484123/
https://ncbi.nlm.nih.gov/pubmed/32160317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12232
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