Electrophoretic separation of complexes of aminoacyl-tRNA synthetase and transfer RNA

Author(s):  
T. Okamoto ◽  
Y. Kawade
Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1437
Author(s):  
Adriana Vargas ◽  
Jorge Rojas ◽  
Ivan Aivasovsky ◽  
Sergio Vergara ◽  
Marianna Castellanos ◽  
...  

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins lysine with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing loss, leukodystrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, the impairment of the mitochondrial respiratory chain, and hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene and, in addition to the case report, the paper reviews the literature for other cases of KARS1-associated leukodystrophy.


Author(s):  
Adriana Vargas-Niño ◽  
Jorge Rojas-Martinez ◽  
Ivan Aivasovsky-Trotta ◽  
Sergio Vergara-Cardenas ◽  
Marianna Castellanos-Fernandez ◽  
...  

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS) which activates and joins the lysin with its corresponding transfer RNA (tRNA), through the ATP-dependent aminoacylation of the amino acid. The KARS gene mutations have been linked to diverse neurologic phenotypes such as: neurosensorial hearing loss, leukodistrophy, microcephaly, developmental delay or regression, peripheral neuropathy, cardiomyopathy, impairment of the mitochondrial respiratory chain, hyperlactatemia, among others. This article presents the case of a Colombian pediatric patient with two pathological missense variants in a compound heterozygous state in the KARS gene.


2005 ◽  
Vol 280 (25) ◽  
pp. 23966-23977 ◽  
Author(s):  
Nathan T. Uter ◽  
Ita Gruic-Sovulj ◽  
John J. Perona

1985 ◽  
Vol 181 (1) ◽  
pp. 93-102 ◽  
Author(s):  
Eric J. Ackerman ◽  
Andrzej Joachimiak ◽  
Vered Klinghofer ◽  
Paul B. Sigler

Gene ◽  
2005 ◽  
Vol 360 (2) ◽  
pp. 120-130 ◽  
Author(s):  
Hong Xue ◽  
Siu-Kin Ng ◽  
Ka-Lok Tong ◽  
J.Tze-Fei Wong

1996 ◽  
Vol 15 (8) ◽  
pp. 1983-1991 ◽  
Author(s):  
K. W. Hong ◽  
M. Ibba ◽  
I. Weygand-Durasevic ◽  
M. J. Rogers ◽  
H. U. Thomann ◽  
...  

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