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Article

Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway

26 Mar 2022

Abstract excerpt

AIM: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by survival of motor neuron (SMN) deficiency that induces motor neuron (MN) degeneration and severe muscular atrophy. Gene therapies that increase SMN have proven their efficacy but not for all patients. Here, we explored the unfolded protein response (UPR) status in SMA pathology and explored whether UPR modulation could be beneficial for SMA...

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PMID: 35338505
DOI: 10.1111/nan.12816

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