Universität zu Köln

Journal Article

Bender, Daniel ORCID: 0000-0002-2975-4186, Kaczmarek, Alexander Tobias, Santamaria-Araujo, Jose Angel, Stueve, Burkard, Waltz, Stephan, Bartsch, Deniz, Kurian, Leo, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2019). Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency. Hum. Mol. Genet., 28 (17). S. 2885 - 2900. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Hitzert, Marrit M., Bos, Arend F., Bergman, Klasien A., Veldman, Alex, Schwarz, Guenter ORCID: 0000-0002-2118-9338, Santamaria-Araujo, Jose Angel, Heiner-Fokkema, Rebecca, Sival, Deborah A., Lunsing, Roelineke J., Arjune, Sita, Kosterink, Jos G. W. and van Spronsen, Francjan J. (2012). Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP. Pediatrics, 130 (4). S. E1005 - 6. ELK GROVE VILLAGE: AMER ACAD PEDIATRICS. ISSN 1098-4275

Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter ORCID: 0000-0002-2118-9338, Burfeind, Peter, Reiss, Jochen and Smorag, Lukasz (2016). Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients. Hum. Genet., 135 (7). S. 813 - 827. NEW YORK: SPRINGER. ISSN 1432-1203

Kaczmarek, Alexander Tobias, Bender, Daniel, Gehling, Titus, Kohl, Joshua Benedict, Daimagueler, Hulya-Sevcan, Santamaria-Araujo, Jose Angel, Liebau, Max Christoph, Koy, Anne, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2022). A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. J. Inherit. Metab. Dis., 45 (2). S. 169 - 183. HOBOKEN: WILEY. ISSN 1573-2665

Kumar, Avadh, Dejanovic, Borislav, Hetsch, Florian, Semtner, Marcus, Fusca, Debora, Arjune, Sita, Santamaria-Araujo, Jose Angel, Winkelmann, Aline, Ayton, Scott ORCID: 0000-0002-3479-2427, Bush, Ashley I., Kloppenburg, Peter, Meier, Jochen C., Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Belaidi, Abdel Ali (2017). S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. J. Clin. Invest., 127 (12). S. 4365 - 4379. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Mayr, Simon Julius, Sass, Joern Oliver, Vry, Julia, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Mader, Irina, Hoevener, Jan-Bernd, Reiss, Jochen, Santamaria-Araujo, Jose Angel, Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Gruenert, Sarah Catharina (2018). A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. J. Inherit. Metab. Dis., 41 (2). S. 187 - 197. DORDRECHT: SPRINGER. ISSN 1573-2665

Pristup, Julika, Schaeffeler, Elke, Arjune, Sita ORCID: 0000-0002-6121-4614, Hofmann, Ute, Santamaria-Araujo, Jose Angel, Leuthold, Patrick, Friedrich, Nele, Nauck, Matthias, Mayr, Simon, Haag, Mathias, Muerdter, Thomas, Marner, Franz-Josef, Relling, Mary, V, Evans, William E., Schwarz, Guenter and Schwab, Matthias (2022). Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase. Clin. Pharmacol. Ther., 112 (4). S. 808 - 817. HOBOKEN: WILEY. ISSN 1532-6535

Santamaria-Araujo, Jose Angel, Wray, Victor and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2016). Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate (vol 17, pg 113, 2012). J. Biol. Inorg. Chem., 21 (2). S. 293 - 294. NEW YORK: SPRINGER. ISSN 1432-1327