We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clinical care. Methods: Symptoms were analyzed in all patients with recessive ARS deficiencies reported in literature, supplemented with unreported patients evaluated in our hospital. Conclusion: We propose a common clinical phenotype for recessive ARS deficiencies, resulting from insufficient aminoacylation activity to meet translational demand in specific organs or periods of life.
Genetics in Medicine , Fuchs, Sabine A. In: Genetics in Medicine. In: Genetics in Medicine , AU - Schene, Imre F. AU - Nikkels, Peter G. AU - van Gassen, Koen L. AU - van der Crabben, Saskia N. AU - Hoeks, Sanne E. AU - Niers, Laetitia E. AU - Wolf, Nicole I.
AU - de Vries, Maaike C. AU - Koolen, David A. AU - Houwen, Roderick H. Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers.
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Aminoacyl-tRNA Synthetases in Biology and Medicine | Sunghoon Kim | Springer
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A multifunctional repeated motif is present in human bifunctional tRNA synthetase. Sampath, P. Noncanonical function of glutamyl-prolyl-tRNA synthetase: gene-specific silencing of translation. This paper illustrates the translational silencing activity of human glutamyl-prolyl-tRNA synthetase outside the translational machinery. Arif, A. Phosphorylation of glutamyl-prolyl tRNA synthetase by cyclin-dependent kinase 5 dictates transcript-selective translational control. Mukhopadhyay, R.
The GAIT system: a gatekeeper of inflammatory gene expression. Tolstrup, A. Turpaev, K.
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