Gain-of-function mutations in the housekeeping gene GARS1, which lead to the expression
of toxic versions of glycyl-tRNA synthetase (GlyRS), cause the selective motor and sensory …

Although amyotrophic lateral sclerosis (ALS) is pre-eminently a motor disease, the existence
of non-motor manifestations, including sensory involvement, has been described in the last …

Abstract SOD1G93A mice show loss of cutaneous small fibers, as in ALS patients. Our
objective is to characterize the involvement of different somatosensory neuron populations …

Since ancient times, animal models have provided fundamental information in medical
knowledge. This also applies for discoveries in the field of inherited peripheral neuropathies …

Objective Dorsal root ganglia (DRG) are heterogeneous assemblies of assorted sensory
neuron cell bodies found in bilateral pairs at every level of the spinal column …

Dominantly inherited, missense mutations in the widely expressed housekeeping gene,
GARS1, cause Charcot-Marie-Tooth type 2D (CMT2D), a peripheral neuropathy …

We investigated the genome of a 5-year-old male who presented with global developmental
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …

Axonal transport is the essential process by which neurons actively traffic a variety of
cargoes between the cell soma and axon terminals. Accordingly, dysfunctional axonal …

Abstract Charcot-Marie-Tooth disease (CMT) is a genetic peripheral neuropathy caused by
mutations in many functionally diverse genes. The aminoacyl-tRNA synthetase (ARS) …

Aminoacyl-tRNA synthetases (ARSs) play an essential role in protein synthesis, being
responsible for ligating tRNA molecules to their corresponding amino acids in a reaction …