| 概要 |
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is a novel brain and heart developmental syndrome characterized by dysmorphic features, intellectual disability, motor dysfunction, hypertrophic cardiomyopathy, and congenital microcephaly. It has been reported that mutations in SHMT2 cause this syndrome. SHMT2 encodes the mitochondrial form of serine hydroxymethyltransferase. SHMT2 performs the first step in a series of reactions that provide one-carbon units covalently bound to folate species in mitochondria.
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| 著者 |
Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schluter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodriguez-Palmero A, Fourcade S, Cogne B, Besnard T, Vincent M, Bezieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A |
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