Article

Altered sensory neuron development in CMT2D mice is site-specific and linked to increased GlyRS levels

2020-04-28

Abstract excerpt

Dominant, missense mutations in the widely and constitutively expressed GARS1 gene cause a peripheral neuropathy that usually begins in adolescence and principally impacts the upper limbs. Caused by a toxic gain-of-function in the encoded glycyl-tRNA synthetase (GlyRS) enzyme, the neuropathology appears to be independent of the canonical role of GlyRS in aminoacylation. Patients display progressive, life-long wea...

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Literature Corpus work: 6cbf0b76-de65-5b50-9edc-5eedb816981d
DOI: 10.1101/2020.04.27.025098

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