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TitleClinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Journal, issue, pagesMol. Genet. Metab., Vol. 140, Page 107657-107657, Year 2023
Publish dateJun 3, 2023 (structure data deposition date)
AuthorsChen, W. / Rehsi, P. / Thompson, K. / Yeo, M. / Stals, K. / He, L. / Schimmel, P. / Chrzanowska-Lightowlers, Z.M.A. / Wakeling, E. / Taylor, R.W. / Kuhle, B.
External linksMol. Genet. Metab. / PubMed:37523899
MethodsX-ray diffraction
Resolution1.46 Å
Structure data

PDB-8p8x:
Crystal structure of a pathogenic mutant variant of human mitochodnrial PheRS
Method: X-RAY DIFFRACTION / Resolution: 1.46 Å

Chemicals

ChemComp-PHE:
PHENYLALANINE

ChemComp-HOH:
WATER

Source
  • homo sapiens (human)
KeywordsLIGASE / Phenylalanyl-tRNA synthetase / FARS2 / mitochondria / mitochondrial disease / class II aminoacyl-tRNA ligase / alpha-beta domain / ATP binding / amino acid binding

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