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Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. Acta Neuropathol 2020 Dec;140(6):971-975

Date

10/06/2020

Pubmed ID

33015733

Pubmed Central ID

PMC7665968

DOI

10.1007/s00401-020-02223-w

Scopus ID

2-s2.0-85092164256 (requires institutional sign-in at Scopus site)   21 Citations

Author List

García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, SHMT2 Working Group, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A

Author

Michael T. Zimmermann PhD Director, Assistant Professor in the Clinical and Translational Science Institute department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Brain
Carbon
Female
Glycine Hydroxymethyltransferase
Heart
Humans
Magnetic Resonance Imaging
Male
Malformations of Cortical Development
Mitochondria
Syndrome