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Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels

Dominant, missense mutations in the widely and constitutively expressed GARS1 gene cause 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 appea...

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Detalles Bibliográficos
Autores principales: Sleigh, James N., Mech, Aleksandra M., Aktar, Tahmina, Zhang, Yuxin, Schiavo, Giampietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431706/
https://www.ncbi.nlm.nih.gov/pubmed/32848623
http://dx.doi.org/10.3389/fncel.2020.00232