Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Human Mutation

Volumn 38, Issue 6, 2017, Pages 621-636

  Musante, Luciana ^a   Püttmann, Lucia ^a   Kahrizi, Kimia ^b   Garshasbi, Masoud ^a   Hu, Hao ^a   Stehr, Henning ^c   Lipkowitz, Bettina ^a   Otto, Sabine ^a   Jensen, Lars R ^d   Tzschach, Andreas ^a   Jamali, Payman ^e   Wienker, Thomas ^a   Najmabadi, Hossein ^b   Ropers, Hans Hilger ^a   Kuss, Andreas W ^d  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^c STANFORD CANCER INSTITUTE   (United States)

^d UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^e ShahroudWelfare Organization   (Iran)

Author keywords

aminoacyl tRNA synthetase; aminoacylation; brain; cognition; intellectual disability; SARS; tRNA; WARS2

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; CYTOKINE; RNA BINDING PROTEIN; SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1; TUMOR PROTEIN;

ADOLESCENT; ADULT; CHILD; FEMALE; GENETICS; HEK293 CELL LINE; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; IRAN; MALE; MISSENSE MUTATION; NONSENSE MEDIATED MRNA DECAY; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AMINO ACYL-TRNA SYNTHETASES; CHILD; CYTOKINES; FEMALE; HEK293 CELLS; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; IRAN; MALE; MUTATION, MISSENSE; NEOPLASM PROTEINS; NONSENSE MEDIATED MRNA DECAY; PEDIGREE; RNA-BINDING PROTEINS;

EID: 85017116376     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23205     Document Type: Article

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