Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease

@article{Antonellis2018CompoundHF,
  title={Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease},
  author={A. Antonellis and S. Oprescu and L. Griffin and A. Heider and A. Amalfitano and J. Innis},
  journal={Human Mutation},
  year={2018},
  volume={39},
  pages={834 - 840}
}
Aminoacyl‐tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in phenotypically diverse dominant and recessive human diseases. The charging of tRNAPHE with phenylalanine is performed by a tetrameric enzyme that contains two alpha (FARSA) and two beta (FARSB) subunits. To date, mutations in the genes encoding these subunits (FARSA and FARSB) have not been implicated in any human disease. Here, we… Expand
FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects
tRNA Metabolism and Neurodevelopmental Disorders.
...
1
2
...

References

SHOWING 1-10 OF 51 REFERENCES
A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease
Mutations in FARS2 and non‐fatal mitochondrial dysfunction in two siblings
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
...
1
2
3
4
5
...