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
10/06/2020Pubmed ID
33015733Pubmed Central ID
PMC7665968DOI
10.1007/s00401-020-02223-wScopus ID
2-s2.0-85092164256 (requires institutional sign-in at Scopus site) 21 CitationsAuthor 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 AAuthor
Michael T. Zimmermann PhD Director, Assistant Professor in the Clinical and Translational Science Institute department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
BrainCarbon
Female
Glycine Hydroxymethyltransferase
Heart
Humans
Magnetic Resonance Imaging
Male
Malformations of Cortical Development
Mitochondria
Syndrome