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

被引：23

作者：

Garcia-Cazorla, Angels ^{[1
,2
,3
,4
]}

Verdura, Edgard ^{[4
,5
]}

Julia-Palacios, Natalia ^{[1
,2
,3
,4
]}

Anderson, Eric N. ^{[6
]}

Goicoechea, Leire ^{[4
,5
]}

Planas-Serra, Laura ^{[4
,5
]}

Tsogtbaatar, Enkhtuul ^{[7
,8
,9
]}

Dsouza, Nikita R. ^{[10
]}

Schluter, Agatha ^{[4
,5
]}

Urreizti, Roser ^{[3
,4
,11
]}

Tarnowski, Jessica M. ^{[12
,13
]}

Gavrilova, Ralitza H. ^{[12
,13
]}

Ruiz, Montserrat ^{[4
,5
]}

Rodriguez-Palmero, Agusti ^{[4
,5
,14
]}

Fourcade, Stephane ^{[4
,5
]}

Cogne, Benjamin ^{[15
,16
]}

Besnard, Thomas ^{[15
,16
]}

Vincent, Marie ^{[15
,16
]}

Bezieau, Stephane ^{[15
,16
]}

Folmes, Clifford D. ^{[7
,8
,9
]}

Zimmermann, Michael T. ^{[10
,17
]}

Klee, Eric W. ^{[12
,18
,19
]}

Pandey, Udai Bhan ^{[6
]}

Artuch, Rafael ^{[3
,4
,11
]}

Cousin, Margot A. ^{[18
,19
]}

Pujol, Aurora ^{[4
,5
,20
]}

机构：

[1] Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, Spain

[2] Hosp St Joan de Deu, Inst Pediat Recerca, Synapt Metab Lab, Neurol Dept, Barcelona 08950, Catalonia, Spain

[3] MetabERN, Barcelona 08950, Catalonia, Spain

[4] Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain

[5] Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain

[6] Univ Pittsburgh, Childrens Hosp Pittsburgh, Dept Pediat, Sch Med, Pittsburgh, PA 15224 USA

[7] Mayo Clin, Dept Cardiovasc Med, Scottsdale, AZ 85260 USA

[8] Mayo Clin, Dept Biochem & Mol Biol, Scottsdale, AZ 85260 USA

[9] Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Scottsdale, AZ 85260 USA

[10] Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Bioinformat Res & Dev Lab, Milwaukee, WI 53226 USA

[11] Inst Recerca St Joan de Deu, Clin Biochem Dept, Barcelona 08950, Catalonia, Spain

[12] Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA

[13] Mayo Clin, Dept Neurol, Rochester, MN 55905 USA

[14] Univ Hosp Germans Trias & Pujol, Dept Pediat, Paediat Neurol Unit, Badalona 08916, Catalonia, Spain

[15] CHU Nantes, Serv Genet Med, F-44000 Nantes, Pays De La Loir, France

[16] Univ Nantes, Inst Thorax, CNRS, INSERM, F-44000 Nantes, Pays De La Loir, France

[17] Med Coll Wisconsin, Clin & Translat Sci Inst, Milwaukee, WI 53226 USA

[18] Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA

[19] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA

[20] Catalan Inst Res & Adv Studies ICREA, Barcelona 08010, Spain

来源：

ACTA NEUROPATHOLOGICA | 2020年 / 140卷 / 06期

关键词：

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

D O I：

10.1007/s00401-020-02223-w

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：971 / 975

页数：5

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