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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Veröffentlicht in:J Inherit Metab Dis
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley & Sons, Inc. 2020
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Original Articles
Online Zugang: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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