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

ACTA NEUROPATHOLOGICA

Volume 140, Issue 6, Pages 971-975

SPRINGER

SHMT2; Mitochondrial one-carbon metabolism; Congenital microcephaly; Perisylvian polymicrogyria; Cardiomyopathy

Clinical Neurology Neurosciences Pathology

1. Centre for Biomedical Research on Rare Diseases (CIBERER) [ACCI14-759, ACCI19-26]
2. Fondo de Investigacion Sanitaria [FIS PI17/00916]
3. European Regional Development Fund. ERDF, a way to build Europe
4. URDCat program [PERIS SLT002/16/00174]
5. Hesperia Foundation
6. Ministry of Business and Knowledge of the Government of Catalonia [2017SGR1206]
7. Fondo de Investigacion Sanitaria (FIS) [P118/00111]
8. ISCIII [FIS PI17/00109]
9. Ministerio de Economia, Industria y Competividad [FJCI-2016-28811]
10. Instituto de Salud Carlos III [28029, 08950, CD19/00221, CPII16/00016]
11. European Social Fund. ESF investing in your future
12. Center for Individualized Medicine at Mayo Clinic
13. NIH [HL121079]
14. Anne Dash Weinman Fund in Cardiovascular Research Honoring Steven J. Lester
15. Nasser Al-Rashid Fund for Research in Cardiovascular Diseases
16. Linda T. and John A. Mellowes Endowed Innovation and Discovery Fund
17. Genomic Sciences and Precision Medicine Center of Medical College of Wisconsin
18. CIBERER
19. Instituto de Salud Carlos III (PFIS) [FI18/00141, FI18/00253]