Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for protein synthesis with
evolutionarily conserved enzymatic mechanisms. Despite their similarity across organisms …

Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

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 …

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 …

Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …

Pathological mutations in tRNA genes and tRNA processing enzymes are numerous and
result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA) genes are …

Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate
tRNA molecules, which is the essential first step of protein translation. Interestingly …