The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotyp...
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
About this item
Full title
Author / Creator
Averdunk, Luisa , Sticht, Heinrich , Surowy, Harald , Lüdecke, Hermann-Josef , Koch-Hogrebe, Margarete , Alsaif, Hessa S. , Kahrizi, Kimia , Alzaidan, Hamad , Alawam, Bashayer S. , Tohary, Mohamed , Kraus, Cornelia , Endele, Sabine , Wadman, Erin , Kaplan, Julie D. , Efthymiou, Stephanie , Najmabadi, Hossein , Reis, André , Alkuraya, Fowzan S. and Wieczorek, Dagmar
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by
YARS1 (
cytosolic
,
OMIM*603,623
)
and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains...
Alternative Titles
Full title
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
Authors, Artists and Contributors
Author / Creator
Sticht, Heinrich
Surowy, Harald
Lüdecke, Hermann-Josef
Koch-Hogrebe, Margarete
Alsaif, Hessa S.
Kahrizi, Kimia
Alzaidan, Hamad
Alawam, Bashayer S.
Tohary, Mohamed
Kraus, Cornelia
Endele, Sabine
Wadman, Erin
Kaplan, Julie D.
Efthymiou, Stephanie
Najmabadi, Hossein
Reis, André
Alkuraya, Fowzan S.
Wieczorek, Dagmar
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8599376
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8599376
Other Identifiers
ISSN
0946-2716,1432-1440
E-ISSN
1432-1440
DOI
10.1007/s00109-021-02124-9
