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Sebastian Pons

Instituto de Biología Molecular de Barcelona - Department of Cell Biology

United States

  • Instituto de Biología Molecular de Barcelona - Department of Cell Biology

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SAICAr-Dependent and Independent Effects of ADSL Deficiency on Neurodevelopment

Number of pages: 47 Posted: 18 Dec 2020
Ilaria Dutto, Julian Gerhards, Antonio Herrera, Alexandra Junza, Oscar Yanes, Cedric Boeckx, Martin D. Burkhalter, Sebastian Pons, Melanie Philipp, Jens Lüders and Travis Stracker
The Barcelona Institute of Science and Technology - Institute for Research in Biomedicine (IRB Barcelona), University of Tübingen - Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Instituto de Biología Molecular de Barcelona - Department of Cell Biology, Universitat Rovira i Virgili - Metabolomics Platform, Universitat Rovira i Virgili - Metabolomics Platform, Universitat de Barcelona - Institute of Complex Systems (UBICS), University of Tübingen - Department of Experimental and Clinical Pharmacology and Pharmacogenomics, Instituto de Biología Molecular de Barcelona - Department of Cell Biology, University of Tübingen - Department of Experimental and Clinical Pharmacology and Pharmacogenomics, The Barcelona Institute of Science and Technology - Institute for Research in Biomedicine (IRB Barcelona) and The Barcelona Institute of Science and Technology - Institute for Research in Biomedicine (IRB Barcelona)
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Abstract:

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Adenylosuccinate Lyase, ADSL, ADSLD, microcephaly, cilia, SAICAr, DNA damage, de novo purine synthesis