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Year Number of Results
2004 2
2007 1
2008 1
2010 1
2011 2
2012 3
2013 1
2015 1
2016 2
2017 1
2018 1
2019 1
2020 0
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Page 1
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Jakubiczka-Smorag J, Santamaria-Araujo JA, Metz I, Kumar A, Hakroush S, Brueck W, Schwarz G, Burfeind P, Reiss J, Smorag L. Jakubiczka-Smorag J, et al. Among authors: Santamaria-Araujo JA. Hum Genet. 2016 Jul;135(7):813-26. doi: 10.1007/s00439-016-1676-4. Epub 2016 May 2. Hum Genet. 2016. PMID: 27138983
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hövener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC. Mayr SJ, et al. Among authors: Santamaria-Araujo JA. J Inherit Metab Dis. 2018 Mar;41(2):187-196. doi: 10.1007/s10545-018-0138-7. Epub 2018 Jan 24. J Inherit Metab Dis. 2018. PMID: 29368224
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, König K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G. Schwahn BC, et al. Among authors: Santamaria-Araujo JA. Lancet. 2015 Nov 14;386(10007):1955-63. doi: 10.1016/S0140-6736(15)00124-5. Epub 2015 Sep 3. Lancet. 2015. PMID: 26343839 Clinical Trial.
S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.
Kumar A, Dejanovic B, Hetsch F, Semtner M, Fusca D, Arjune S, Santamaria-Araujo JA, Winkelmann A, Ayton S, Bush AI, Kloppenburg P, Meier JC, Schwarz G, Belaidi AA. Kumar A, et al. Among authors: Santamaria-Araujo JA. J Clin Invest. 2017 Dec 1;127(12):4365-4378. doi: 10.1172/JCI89885. Epub 2017 Nov 6. J Clin Invest. 2017. PMID: 29106383 Free PMC article.
Synthesis of cyclic pyranopterin monophosphate, a biosynthetic intermediate in the molybdenum cofactor pathway.
Clinch K, Watt DK, Dixon RA, Baars SM, Gainsford GJ, Tiwari A, Schwarz G, Saotome Y, Storek M, Belaidi AA, Santamaria-Araujo JA. Clinch K, et al. Among authors: Santamaria-Araujo JA. J Med Chem. 2013 Feb 28;56(4):1730-8. doi: 10.1021/jm301855r. Epub 2013 Feb 19. J Med Chem. 2013. PMID: 23384403
Successful treatment of molybdenum cofactor deficiency type A with cPMP.
Veldman A, Santamaria-Araujo JA, Sollazzo S, Pitt J, Gianello R, Yaplito-Lee J, Wong F, Ramsden CA, Reiss J, Cook I, Fairweather J, Schwarz G. Veldman A, et al. Among authors: Santamaria-Araujo JA. Pediatrics. 2010 May;125(5):e1249-54. doi: 10.1542/peds.2009-2192. Epub 2010 Apr 12. Pediatrics. 2010. PMID: 20385644
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