Jose Angel Santamaria-Araujo

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Authors:

Daniel Bender Alexander Tobias Kaczmarek Jose Angel Santamaria-Araujo Burkard Stueve Stephan Waltz Deniz Bartsch Leo Kurian Sebahattin Cirak Guenter Schwarz

Hum Mol Genet 2019 09;28(17):2885-2899

Department of Chemistry, Institute for Biochemistry, University of Cologne, 50674 Cologne, Germany.

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September 2019

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Authors:

Simon Julius Mayr Jörn Oliver Sass Julia Vry Janbernd Kirschner Irina Mader Jan-Bernd Hövener Jochen Reiss José Angel Santamaria-Araujo Günter Schwarz Sarah Catharina Grünert

J Inherit Metab Dis 2018 03 24;41(2):187-196. Epub 2018 Jan 24.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany.

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March 2018

S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.

Authors:

Avadh Kumar Borislav Dejanovic Florian Hetsch Marcus Semtner Debora Fusca Sita Arjune Jose Angel Santamaria-Araujo Aline Winkelmann Scott Ayton Ashley I Bush Peter Kloppenburg Jochen C Meier Guenter Schwarz Abdel Ali Belaidi

J Clin Invest 2017 12 6;127(12):4365-4378. Epub 2017 Nov 6.

Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

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December 2017

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Authors:

Joanna Jakubiczka-Smorag Jose Angel Santamaria-Araujo Imke Metz Avadh Kumar Samy Hakroush Wolfgang Brueck Guenter Schwarz Peter Burfeind Jochen Reiss Lukasz Smorag

Hum Genet 2016 07 2;135(7):813-26. Epub 2016 May 2.

Institute of Human Genetics, University Medical Center Goettingen, Heinrich-Dueker-Weg 12, 37073, Goettingen, Germany.

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July 2016

Erratum to: Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate.

Authors:

Jose Angel Santamaria-Araujo Victor Wray Guenter Schwarz

J Biol Inorg Chem 2016 Apr;21(2):293

Institute of Biochemistry, Department of Chemistry & Center for Molecular Medicine Cologne, University of Cologne, 50674, Cologne, Germany.

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April 2016

Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.

Authors:

Abdel Ali Belaidi Sita Arjune Jose Angel Santamaria-Araujo Jörn Oliver Sass Guenter Schwarz

JIMD Rep 2012 17;5:35-43. Epub 2011 Dec 17.

Institute of Biochemistry, Department of Chemistry and Center for Molecular Medicine Cologne, University of Cologne, Zuelpicher Str. 47, 50674, Cologne, Germany.

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February 2013

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Authors:

Marrit M Hitzert Arend F Bos Klasien A Bergman Alex Veldman Guenter Schwarz José Angel Santamaria-Araujo Rebecca Heiner-Fokkema Deborah A Sival Roelineke J Lunsing Sita Arjune Jos G W Kosterink Francjan J van Spronsen

Pediatrics 2012 Oct 17;130(4):e1005-10. Epub 2012 Sep 17.

Division of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

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October 2012