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@ARTICLE{Fu:1048140,
      author       = {Fu, Chun-Yu and Kohl, Joshua B. and Liebsch, Filip and
                      D’Andrea, Davide and Ditrói, Tamás and Ogata, Seiryo and
                      Neuser, Franziska and Mai, Max and Mellis, Anna T. and
                      Kouroussis, Emilia and Morita, Masanobu and Gehling, Titus
                      and Santamaria-Araujo, José Angel and Yeo, Sin Yuin and
                      Endepols, Heike and Křížková, Michaela and Kozich,
                      Viktor and Krueger, Marcus and Hennermann, Julia B. and
                      Barayeu, Uladzimir and Akaike, Takaaki and Nagy, Peter and
                      Filipovic, Milos and Schwarz, Guenter},
      title        = {{S}ulfite oxidase deficiency causes persulfidation loss and
                      hydrogen sulfide release},
      journal      = {The journal of clinical investigation},
      volume       = {135},
      number       = {21},
      issn         = {0021-9738},
      address      = {Ann Arbor, Mich.},
      publisher    = {ASCJ},
      reportid     = {FZJ-2025-04520},
      pages        = {e181299},
      year         = {2025},
      abstract     = {Sulfite oxidase (SOX) deficiency is a rare inborn error of
                      cysteine metabolism resulting in severe neurological damage.
                      In patients, sulfite accumulates to toxic levels, causing a
                      rise in the downstream products S-sulfocysteine, which
                      mediates excitotoxicity, and thiosulfate, a catabolic
                      intermediate/product of hydrogen sulfide (H2S) metabolism.
                      Here, we report a full-body knockout mouse model for SOX
                      deficiency (SOXD) with a severely impaired phenotype. Among
                      the urinary biomarkers, thiosulfate showed a 45-fold
                      accumulation in SOXD mice, representing the major excreted
                      S-metabolite. Consistently, we found increased plasma H2S,
                      which was derived from sulfite-induced release from
                      persulfides, as demonstrated in vitro and in vivo. Mass
                      spectrometry analysis of total protein persulfidome
                      identified a major loss of S-persulfidation in $20\%$ of the
                      proteome, affecting enzymes in amino acids, fatty acid
                      metabolism, and cytosolic iron-sulfur cluster biogenesis.
                      Urinary amino acid profiles indicated metabolic rewiring and
                      mitochondrial dysfunction, thus identifying an altered H2S
                      metabolism and persulfidation in SOXD. Finally, oxidized
                      glutathione and glutathione trisulfide were able to scavenge
                      sulfite in vitro and in vivo, extending the lifespan of SOXD
                      mice and providing a mechanistic concept of sulfite
                      scavenging for the treatment of this severe metabolic
                      disorder of cysteine catabolism.},
      cin          = {INM-5},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-5-20090406},
      pnm          = {5253 - Neuroimaging (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5253},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1172/JCI181299},
      url          = {https://juser.fz-juelich.de/record/1048140},
}