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Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

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The molecular mechanisms responsible for selective motor neuron loss in SMA remain elusive. Rizzo et al. show that deregulated transcripts in SMA-motor neurons share motif 7, targeted by SYNCRIP, which… Click to show full abstract

The molecular mechanisms responsible for selective motor neuron loss in SMA remain elusive. Rizzo et al. show that deregulated transcripts in SMA-motor neurons share motif 7, targeted by SYNCRIP, which binds SMN. Impaired SYNCRIP-SMN interaction leads to dysregulation of downstream genes, such as NEUREXIN2, which could represent therapeutic targets.

Keywords: motor neurons; smn; rna; motor; syncrip; key role

Journal Title: Brain
Year Published: 2019

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