Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
R Meyer-Schuman, A Antonellis - Human molecular genetics, 2017 - academic.oup.com
Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate
tRNA molecules, which is the essential first step of protein translation. Interestingly …
tRNA molecules, which is the essential first step of protein translation. Interestingly …
When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases
LE González-Serrano, JW Chihade, M Sissler - Journal of Biological …, 2019 - ASBMB
Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are essential components of the
mitochondrial translation machinery. The correlation of mitochondrial disorders with …
mitochondrial translation machinery. The correlation of mitochondrial disorders with …
FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism
W Fan, X Jin, M Xu, Y Xi, W Lu, X Yang… - Nucleic acids …, 2021 - academic.oup.com
Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are linked to
diverse diseases. However, the precise mechanisms by which these mutations affect …
diverse diseases. However, the precise mechanisms by which these mutations affect …
Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function
The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been
studied for their nuclear and extra-cellular ex-translational activities. Human genetic …
studied for their nuclear and extra-cellular ex-translational activities. Human genetic …
[HTML][HTML] New insights into the phenotype of FARS2 deficiency
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to
deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three …
deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three …
Metabolic etiologies in West syndrome
S Salar, SL Moshé, AS Galanopoulou - Epilepsia Open, 2018 - Wiley Online Library
West syndrome (WS) is an early life epileptic encephalopathy associated with infantile
spasms, interictal electroencephalography (EEG) abnormalities including high amplitude …
spasms, interictal electroencephalography (EEG) abnormalities including high amplitude …
Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease
A Antonellis, SN Oprescu, LB Griffin, A Heider… - Human …, 2018 - Wiley Online Library
Aminoacyl‐tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino
acids onto tRNA molecules. Genes encoding ARSs have been implicated in phenotypically …
acids onto tRNA molecules. Genes encoding ARSs have been implicated in phenotypically …
Developmental angiogenesis requires the mitochondrial phenylalanyl-tRNA synthetase
B Li, K Chen, F Liu, J Zhang, X Chen, T Chen… - Frontiers in …, 2021 - frontiersin.org
Background: Mitochondrial aminoacyl-tRNA synthetases (mtARSs) catalyze the binding of
specific amino acids to their cognate tRNAs and play an essential role in the synthesis of …
specific amino acids to their cognate tRNAs and play an essential role in the synthesis of …
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary …
An increasing number of mitochondrial diseases are found to be caused by pathogenic
variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes …
variants in nuclear encoded mitochondrial aminoacyl-tRNA synthetases. FARS2 encodes …
Ubiquitously expressed proteins and restricted phenotypes: exploring cell-specific sensitivities to impaired tRNA charging
ME Kuo, A Antonellis - Trends in Genetics, 2020 - cell.com
Aminoacyl-tRNA synthetases (ARS) are ubiquitously expressed, essential enzymes that
charge tRNA with cognate amino acids. Variants in genes encoding ARS enzymes lead to …
charge tRNA with cognate amino acids. Variants in genes encoding ARS enzymes lead to …