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Article

Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons

9 Jun 2020

Abstract excerpt

Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder caused by reduced expression of the survival motor neuron (SMN) protein. SMN has key functions in multiple RNA pathways, including the biogenesis of small nuclear ribonucleoproteins that are essential components of both major (U2-dependent) and minor (U12-dependent) spliceosomes. Here we investigated the specific contribution of U12 splicing...

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PMID: 32516136
DOI: 10.1172/jci.insight.130574

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