Highlights d Genome-wide CRISPR-Cas9 screens identify regulators of DPR protein production d The RNA helicase DDX3X suppresses RAN translation of C9ORF72 (GGGGCC)n repeats d Elevating DDX3X expression decreases DPR levels in C9ORF72-ALS patient cells d Elevating DDX3X rescues pathological features and improves survival of patient iPSNs

The homozygous c.151+1G>T mutation in SIGMAR1 caused a novel form of autosomal recessive dHMN in a Chinese consanguineous family. Endoplasmic reticulum stress may have a role in the pathogenesis of dHMN.

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