tRNA dysregulation and disease

EA Orellana, E Siegal, RI Gregory - Nature Reviews Genetics, 2022 - nature.com
Abstract tRNAs are key adaptor molecules that decipher the genetic code during translation
of mRNAs in protein synthesis. In contrast to the traditional view of tRNAs as ubiquitously …

Aminoacyl-tRNA synthetases

MAR Gomez, M Ibba - Rna, 2020 - rnajournal.cshlp.org
The aminoacyl-tRNA synthetases are an essential and universally distributed family of
enzymes that plays a critical role in protein synthesis, pairing tRNAs with their cognate …

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

A Zuko, M Mallik, R Thompson, EL Spaulding… - Science, 2021 - science.org
Heterozygous mutations in six transfer RNA (tRNA) synthetase genes cause Charcot-Marie-
Tooth (CMT) peripheral neuropathy. CMT mutant tRNA synthetases inhibit protein synthesis …

ATP7A-related copper transport diseases—emerging concepts and future trends

SG Kaler - Nature reviews Neurology, 2011 - nature.com
This Review summarizes recent advances in understanding copper-transporting ATPase 1
(ATP7A), and examines the neurological phenotypes associated with dysfunction of this …

RNA processing and its regulation: global insights into biological networks

DD Licatalosi, RB Darnell - Nature Reviews Genetics, 2010 - nature.com
In recent years views of eukaryotic gene expression have been transformed by the finding
that enormous diversity can be generated at the RNA level. Advances in technologies for …

The molecular and cellular basis of copper dysregulation and its relationship with human pathologies

MT Maung, A Carlson, M Olea‐Flores… - The FASEB …, 2021 - Wiley Online Library
Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

P Pasinelli, RH Brown - Nature Reviews Neuroscience, 2006 - nature.com
Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron
degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron …

New functions of aminoacyl-tRNA synthetases beyond translation

M Guo, XL Yang, P Schimmel - Nature reviews Molecular cell biology, 2010 - nature.com
Over the course of evolution, eukaryotic aminoacyl-tRNA synthetases (aaRSs) progressively
incorporated domains and motifs that have no essential connection to aminoacylation …

Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success

V Timmerman, AV Strickland, S Züchner - Genes, 2014 - mdpi.com
Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

Aminoacyl-tRNA synthetases in human health and disease

AK Turvey, GA Horvath, ARO Cavalcanti - Frontiers in Physiology, 2022 - frontiersin.org
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 …