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

被引：0
作者：
Àngels García-Cazorla
Edgard Verdura
Natalia Juliá-Palacios
Eric N. Anderson
Leire Goicoechea
Laura Planas-Serra
Enkhtuul Tsogtbaatar
Nikita R. Dsouza
Agatha Schlüter
Roser Urreizti
Jessica M. Tarnowski
Ralitza H. Gavrilova
Montserrat Ruiz
Agustí Rodríguez-Palmero
Stéphane Fourcade
Benjamin Cogné
Thomas Besnard
Marie Vincent
Stéphane Bézieau
Clifford D. Folmes
Michael T. Zimmermann
Eric W. Klee
Udai Bhan Pandey
Rafael Artuch
Margot A. Cousin
Aurora Pujol
机构：
[1] Institut Pediàtric de Recerca,Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department
[2] Hospital Sant Joan de Déu,Neurometabolic Diseases Laboratory
[3] and MetabERN,Department of Pediatrics
[4] Centre for Biomedical Research on Rare Diseases (CIBERER),Department of Cardiovascular Medicine
[5] Instituto de Salud Carlos III,Department of Biochemistry and Molecular Biology
[6] Bellvitge Biomedical Research Institute (IDIBELL),Department of Molecular Pharmacology and Experimental Therapeutics
[7] L’Hospitalet de Llobregat,Bioinformatics Research and Development Laboratory
[8] Children’s Hospital of Pittsburgh,Clinical Biochemistry Department
[9] University of Pittsburgh School of Medicine,Department of Clinical Genomics
[10] Mayo Clinic,Department of Neurology
[11] Mayo Clinic,Department of Pediatrics, Paediatric Neurology Unit
[12] Mayo Clinic,Service de Génétique Médicale
[13] Genomic Sciences and Precision Medicine Center,Clinical and Translational Science Institute
[14] Medical College of Wisconsin,Center for Individualized Medicine
[15] Institut de Recerca Sant Joan de Déu,Department of Health Sciences Research
[16] and MetabERN,undefined
[17] Mayo Clinic,undefined
[18] Mayo Clinic,undefined
[19] University Hospital Germans Trias i Pujol,undefined
[20] CHU de Nantes,undefined
[21] and INSERM,undefined
[22] CNRS,undefined
[23] Université de Nantes,undefined
[24] l’Institut du Thorax,undefined
[25] Nantes,undefined
[26] Medical College of Wisconsin,undefined
[27] Mayo Clinic,undefined
[28] Mayo Clinic,undefined
[29] Catalan Institution of Research and Advanced Studies (ICREA),undefined
来源：
Acta Neuropathologica | 2020年 / 140卷
关键词：
SHMT2; Mitochondrial one-carbon metabolism; Congenital microcephaly; Perisylvian polymicrogyria; Cardiomyopathy;
D O I：
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中图分类号：
学科分类号：
摘要：
引用
收藏
页码：971 / 975
页数：4
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