Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

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TitleImpairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Date2020-12-01
Issue nameActa neuropathologica
Issue numberv140.6:971-975
DOI10.1007/s00401-020-02223-w
PubMed33015733
AuthorsGarcía-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, 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
InfoSHMT2 Working Group, Oyarzábal A, Medina I, Ormazábal A, Muchart J, Carretero JM, Jou C, Del Toro M, Nascimento A, Paredes AJ, Yubero D, Colomé R
KeywordsCardiomyopathy, Congenital microcephaly, Mitochondrial one-carbon metabolism, Perisylvian polymicrogyria, SHMT2
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