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LSD1 inhibition ameliorates congenital dyserythropoietic anemia type II - PubMed

3 hours ago
  • #CDAII therapy
  • #LSD1 inhibition
  • #SEC23A expression
  • LSD1 inhibition rescues congenital dyserythropoietic anemia type II (CDAII) by increasing SEC23A expression.
  • Small-molecule screen identified LSD1 inhibitor RN1 as top compound increasing SEC23A-eGFP abundance without impairing erythroid growth/differentiation.
  • Genetic down-regulation or deletion of LSD1 increased SEC23A mRNA and expression, ameliorating erythroid defects in CDAII models.
  • Mechanistically, LSD1 represses SEC23A transcription by occupying its promoter; deletion of this sequence rescued CDAII.
  • Findings suggest LSD1 inhibition as a promising therapeutic strategy for CDAII.