Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
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Veröffentlicht in: | Acta neuropathologica 2020-12, Vol.140 (6), p.971-975 |
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creator | García-Cazorla, Àngels Verdura, Edgard Juliá-Palacios, Natalia Anderson, Eric N. Goicoechea, Leire Planas-Serra, Laura Tsogtbaatar, Enkhtuul Dsouza, Nikita R. Schlüter, Agatha Urreizti, Roser Tarnowski, Jessica M. Gavrilova, Ralitza H. Ruiz, Montserrat Rodríguez-Palmero, Agustí Fourcade, Stéphane Cogné, Benjamin Besnard, Thomas Vincent, Marie Bézieau, Stéphane Folmes, Clifford D. Zimmermann, Michael T. Klee, Eric W. Pandey, Udai Bhan Artuch, Rafael Cousin, Margot A. Pujol, Aurora |
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doi_str_mv | 10.1007/s00401-020-02223-w |
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subjects | Amino acids Correspondence Enzymes Folic acid Medicine Medicine & Public Health Metabolism Mitochondria Neurosciences Pathology Physiological aspects |
title | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome |
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