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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including bioavailable sulfide) in 37 untreated or insuffic...

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Asıl Yazarlar: Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2022-12-01
Seri Bilgileri:Redox Biology
Konular:
Sulfite oxidase
Molybdenum cofactor
Cystathionine γ-lyase
Cystathionine β-synthase
Sulfide:quinone oxidoreductase
Persulfide dioxygenase
Online Erişim:http://www.sciencedirect.com/science/article/pii/S2213231722002890
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