Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

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第一作者： Benjamin E,Theisen

第一单位： Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.;Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

作者： Benjamin E,Theisen ^[1] ; Anastasia,Rumyantseva ^[2] ; Julie S,Cohen ^[3] ; Wendy A,Alcaraz ^[4] ; Deepali N,Shinde ^[4] ; Sha,Tang ^[4] ; Siddarth,Srivastava ^[5] ; Jonathan,Pevsner ^[6] ; Aleksandra,Trifunovic ^[2] ; Ali,Fatemi ^[1]

作者单位： Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.;Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland. ^[1] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), Center for Molecular Medicine and Institute for Mitochondrial Diseases and Aging, Medical Faculty, University of Cologne, Cologne, North-Rhine Westfalia, Germany. ^[2] Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland. ^[3] AmbryGenetics, Aliso Viejo, California. ^[4] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.;Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. ^[5] Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.;Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland. ^[6]

关键词 aminoacyl tRNA synthetase aminoacylation brain intellectual disability leukoencephalopathy mitochondria