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

Domenico D'AmicoOlivier BiondiCamille JanuelCynthia BezierDelphine SapalyZoé ClercMirella El KhouryVenkat Krishnan SundaramLéo HoudebineThibaut JosseBruno Della GasperaCécile MartinatCharbel MassaadLaure WeillFrédéric Charbonnier

Published in: Neuropathology and applied neurobiology (2022)

We have identified XBP1s depletion as a contributing factor in SMA pathogenesis, and the modulation of this transcription factor proves to be a plausible therapeutic avenue in the context of pharmacological interventions for patients.

Keyphrases

transcription factor
end stage renal disease
ejection fraction
endoplasmic reticulum stress
chronic kidney disease
newly diagnosed
poor prognosis
peritoneal dialysis
prognostic factors
physical activity
signaling pathway
patient reported outcomes
long non coding rna