Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

Lignende værker

• A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype
  af: Gladman, Jordan T., et al.
  Udgivet: (2010)
• SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities
  af: Dominguez, Catherine E., et al.
  Udgivet: (2017)
• Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins
  af: Huo, Qing, et al.
  Udgivet: (2015)
• Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
  af: Ruhno, Corey, et al.
  Udgivet: (2019)
• Intron 7 conserved sequence elements regulate the splicing of the SMN genes
  af: Gladman, Jordan T., et al.
  Udgivet: (2009)