Aminoacyl-tRNA synthetases as therapeutic targets
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for protein synthesis with
evolutionarily conserved enzymatic mechanisms. Despite their similarity across organisms …
evolutionarily conserved enzymatic mechanisms. Despite their similarity across organisms …
Regulation of mRNA translation in neurons—a matter of life and death
M Kapur, CE Monaghan, SL Ackerman - Neuron, 2017 - cell.com
Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …
and function of neural cells. Global reductions in translation initiation resulting from …
Aminoacyl-tRNA synthetases in human health and disease
AK Turvey, GA Horvath, ARO Cavalcanti - Frontiers in Physiology, 2022 - frontiersin.org
The Aminoacyl-tRNA Synthetases (aaRSs) are an evolutionarily ancient family of enzymes
that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino …
that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino …
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …
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 …
tRNA dysregulation in neurodevelopmental and neurodegenerative diseases
RW Burgess, E Storkebaum - Annual review of cell and …, 2023 - annualreviews.org
Transfer RNAs (tRNAs) decode messenger RNA codons to peptides at the ribosome. The
nuclear genome contains many tRNA genes for each amino acid and even each anticodon …
nuclear genome contains many tRNA genes for each amino acid and even each anticodon …
RNA polymerase III subunit mutations in genetic diseases
E Lata, K Choquet, F Sagliocco, B Brais… - Frontiers in Molecular …, 2021 - frontiersin.org
RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA,
transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III …
transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III …
The NIH undiagnosed diseases program and network: applications to modern medicine
WA Gahl, JJ Mulvihill, C Toro, TC Markello… - Molecular genetics and …, 2016 - Elsevier
Introduction The inability of some seriously and chronically ill individuals to receive a
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …
Whole exome sequencing in patients with white matter abnormalities
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …
Integrated classification of inflammatory myopathies
Y Allenbach, O Benveniste, HH Goebel… - Neuropathology and …, 2017 - Wiley Online Library
Inflammatory myopathies comprise a multitude of diverse diseases, most often occurring in
complex clinical settings. To ensure accurate diagnosis, multidisciplinary expertise is …
complex clinical settings. To ensure accurate diagnosis, multidisciplinary expertise is …