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Impairment of the Mitochondrial One-carbon Metabolism Enzyme SHMT2 Causes a Novel Brain and Heart Developmental Syndrome

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References
1.
Estes P, Boehringer A, Zwick R, Tang J, Grigsby B, Zarnescu D . Wild-type and A315T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS. Hum Mol Genet. 2011; 20(12):2308-21. PMC: 3098735. DOI: 10.1093/hmg/ddr124. View

2.
Tani H, Ohnishi S, Shitara H, Mito T, Yamaguchi M, Yonekawa H . Mice deficient in the Shmt2 gene have mitochondrial respiration defects and are embryonic lethal. Sci Rep. 2018; 8(1):425. PMC: 5765156. DOI: 10.1038/s41598-017-18828-3. View

3.
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad M, Conner P . Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014; 95(3):285-93. PMC: 4157144. DOI: 10.1016/j.ajhg.2014.07.012. View

4.
Morscher R, Ducker G, Li S, Mayer J, Gitai Z, Sperl W . Mitochondrial translation requires folate-dependent tRNA methylation. Nature. 2018; 554(7690):128-132. PMC: 6020024. DOI: 10.1038/nature25460. View

5.
Minton D, Nam M, McLaughlin D, Shin J, Bayraktar E, Alvarez S . Serine Catabolism by SHMT2 Is Required for Proper Mitochondrial Translation Initiation and Maintenance of Formylmethionyl-tRNAs. Mol Cell. 2018; 69(4):610-621.e5. PMC: 5819360. DOI: 10.1016/j.molcel.2018.01.024. View