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- W2890216957 abstract "Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown. We show that restoration of ubiquitin-like modifier-activating enzyme 1 (UBA1) was sufficient to correct sensory-motor connectivity in the spinal cord of mice with spinal muscular atrophy. Aminoacyl-tRNA synthetases, including GARS, were identified as downstream targets of UBA1. Regulation of GARS by UBA1 occurred via a non-canonical pathway independent of ubiquitylation. Dysregulation of UBA1/GARS pathways in spinal muscular atrophy mice disrupted sensory neuron fate, phenocopying GARS-dependent defects associated with Charcot-Marie-Tooth disease. Sensory neuron fate was corrected following restoration of UBA1 expression and UBA1/GARS pathways in spinal muscular atrophy mice. We conclude that defective sensory motor connectivity in spinal muscular atrophy results from perturbations in a UBA1/GARS pathway that modulates sensory neuron fate, thereby highlighting significant molecular and phenotypic overlap between spinal muscular atrophy and Charcot-Marie-Tooth disease." @default.
- W2890216957 created "2018-09-27" @default.
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- W2890216957 date "2018-09-25" @default.
- W2890216957 modified "2023-10-17" @default.
- W2890216957 title "UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy" @default.
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- W2890216957 doi "https://doi.org/10.1093/brain/awy237" @default.
- W2890216957 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6158753" @default.
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- W2890216957 hasPublicationYear "2018" @default.
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