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Article

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

4 Nov 2013

Abstract excerpt

The motor neuron (MN) degenerative disease, spinal muscular atrophy (SMA) is caused by deficiency of SMN (survival motor neuron), a ubiquitous and indispensable protein essential for biogenesis of snRNPs, key components of pre-mRNA processing. However, SMA's hallmark MN pathology, including neuromuscular junction (NMJ) disruption and sensory-motor circuitry impairment, remains unexplained. Toward this end, we...

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PMID: 24191055
DOI: 10.1073/pnas.1319280110

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