2020 DOI: 10.20944/preprints202008.0502.v1 View full text Preprint
Adriana Vargas-Niño, Jorge Rojas-Martinez, Ivan Aivasovsky-Trotta, Sergio Vergara-Cardenas, Marianna Castellanos-Fernandez, Carolina Prieto-Soler, Luis Celis-Regalado

Abstract: 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 prese…

expand abstract