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
Hauptverfasser: 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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container_title Acta neuropathologica
container_volume 140
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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