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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Bibliographic Details
Published in:J Inherit Metab Dis
Main Authors: 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
Language:Inglês
Published: John Wiley & Sons, Inc. 2020
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Original Articles
Online Access: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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