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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Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2022-12-01
Col·lecció:	Redox Biology
Matèries:	Sulfite oxidase Molybdenum cofactor Cystathionine γ-lyase Cystathionine β-synthase Sulfide:quinone oxidoreductase Persulfide dioxygenase
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2213231722002890
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