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Open Access Publications from the University of California

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

  • Author(s): Nobuta, Hiroko
  • Cilio, Maria Roberta
  • Danhaive, Olivier
  • Tsai, Hui-Hsin
  • Tupal, Srinivasan
  • Chang, Sandra M
  • Murnen, Alice
  • Kreitzer, Faith
  • Bravo, Verenice
  • Czeisler, Catherine
  • Gokozan, Hamza Numan
  • Gygli, Patrick
  • Bush, Sean
  • Weese-Mayer, Debra E
  • Conklin, Bruce
  • Yee, Siu-Pok
  • Huang, Eric J
  • Gray, Paul A
  • Rowitch, David
  • Otero, José Javier
  • et al.

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Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed two postmortem neonatal-lethal cases with confirmed polyalanine repeat expansion (PARM) or Non-PARM (PHOX2B∆8) mutation of PHOX2B. Both human cases showed neuronal losses within the locus coeruleus (LC), which is important for central noradrenergic signaling. Using a conditionally active transgenic mouse model of the PHOX2B∆8 mutation, we found that early embryonic expression (

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This item is under embargo until December 31, 2999.