Deficiency of WARS2 , encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy-Reference-Cited by-同舟云学术

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

Published:2017-06-26 Issue:9 Volume:173 Page:2505-2510
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Theisen Benjamin E.¹²^ORCID,Rumyantseva Anastasia³,Cohen Julie S.¹,Alcaraz Wendy A.⁴,Shinde Deepali N.⁴,Tang Sha⁴,Srivastava Siddarth²⁵,Pevsner Jonathan¹⁶,Trifunovic Aleksandra³,Fatemi Ali¹²

Affiliation:

1. Hugo W. Moser Research Institute at Kennedy Krieger; Kennedy Krieger Institute; Baltimore Maryland

2. Department of Neurology; Johns Hopkins University School of Medicine; Baltimore Maryland

3. 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

4. AmbryGenetics; Aliso Viejo California

5. Department of Pediatrics; Johns Hopkins University School of Medicine; Baltimore Maryland

6. Department of Psychiatry and Behavioral Sciences; Johns Hopkins University School of Medicine; Baltimore Maryland

Funder

Deutsche Forschungsgemeinschaft

Fritz Thyssen Stiftung

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38339/fullpdf

Reference17 articles.

1. Expresso: Automatic incorporation of structural information in multiple sequence alignments using 3D-Coffee;Armougom;Nucleic Acids Research,2006

2. SWISS-MODEL: Modelling protein tertiary and quaternary structure using evolutionary information;Biasini;Nucleic Acids Research,2014

3. The mitochondrial aminoacyl tRNA synthetases: Genes and syndromes;Diodato;International Journal of Cell Biology,2014

4. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: Results from 500 unselected families with undiagnosed genetic conditions;Farwell;Genetics in Medicine,2015

5. A new bioinformatics analysis tools framework at EMBL-EBI;Goujon;Nucleic Acids Research,2010

Cited by 37 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. tRNA Dysregulation in Neurodevelopmental and Neurodegenerative Diseases;Annual Review of Cell and Developmental Biology;2023-10-16

2. Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models;Frontiers in Neuroscience;2023-05-09

3. The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant;Genes;2023-03-29

4. A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl;Journal of Clinical Neurology;2023

5. Protein synthesis inhibition in neuronal activities;Microbiome Metabolome Brain Vagus Nerve Circuit in Disease and Recovery;2023