Aminoacyl-tRNA synthetases: on anti-synthetase syndrome and beyond
AS Galindo-Feria, A Notarnicola, IE Lundberg… - Frontiers in …, 2022 - frontiersin.org
Anti-synthetase syndrome (ASSD) is an autoimmune disease characterized by the presence
of autoantibodies targeting one of several aminoacyl t-RNA synthetases (aaRSs) along with …
of autoantibodies targeting one of several aminoacyl t-RNA synthetases (aaRSs) along with …
Targeted sequencing approach and its clinical applications for the molecular diagnosis of human diseases
The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …
sequencing (TS) has become an important routine technique in both clinical and research …
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
T Mitani, S Isikay, A Gezdirici, EY Gulec… - The American Journal of …, 2021 - cell.com
Neurodevelopmental disorders (NDDs) are clinically and genetically heterogenous; many
such disorders are secondary to perturbation in brain development and/or function. The …
such disorders are secondary to perturbation in brain development and/or function. The …
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Abstract Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed
cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we …
cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we …
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino
acids to cognate tRNA molecules, the essential first step of protein translation. Here, we …
acids to cognate tRNA molecules, the essential first step of protein translation. Here, we …
A 2020 view on the genetics of developmental and epileptic encephalopathies
HC Happ, GL Carvill - Epilepsy currents, 2020 - journals.sagepub.com
Developmental and epileptic encephalopathies (DEEs) can be primarily attributed to genetic
causes. The genetic landscape of DEEs has been largely shaped by the rise of high …
causes. The genetic landscape of DEEs has been largely shaped by the rise of high …
Genomic data sharing for novel mendelian disease gene discovery: the matchmaker exchange
DR Azzariti, A Hamosh - Annual Review of Genomics and …, 2020 - annualreviews.org
In the last decade, exome and/or genome sequencing has become a common test in the
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …
The tRNA regulome in neurodevelopmental and neuropsychiatric disease
J Blaze, S Akbarian - Molecular psychiatry, 2022 - nature.com
Abstract Transfer (t) RNAs are 70–90 nucleotide small RNAs highly regulated by 43 different
types of epitranscriptomic modifications and requiring aminoacylation ('charging') for mRNA …
types of epitranscriptomic modifications and requiring aminoacylation ('charging') for mRNA …
Transcriptome-based network analysis related to M2-like tumor-associated macrophage infiltration identified VARS1 as a potential target for improving melanoma …
Z Wu, K Lei, H Li, J He, E Shi - Journal of Translational Medicine, 2022 - Springer
Rationale The M2-like tumor-associated macrophages (TAMs) are independent prognostic
factors in melanoma. Methods We performed weighted gene co-expression network …
factors in melanoma. Methods We performed weighted gene co-expression network …
Valine aminoacyl-tRNA synthetase promotes therapy resistance in melanoma
N El-Hachem, M Leclercq, M Susaeta Ruiz… - Nature Cell …, 2024 - nature.com
Transfer RNA dynamics contribute to cancer development through regulation of codon-
specific messenger RNA translation. Specific aminoacyl-tRNA synthetases can either …
specific messenger RNA translation. Specific aminoacyl-tRNA synthetases can either …