Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome

Authors :: Nobuta, H
Cilio, MR
Danhaive, O
Tsai, HH
Tupal, S
Chang, SM
Murnen, A
Kreitzer, F
Bravo, V
Czeisler, C
Gokozan, HN
Gygli, P
Bush, S
Weese-Mayer, DE
Conklin, B
Yee, SP
Huang, EJ
Gray, PA
Rowitch, D
Otero, JJ
Source :: Nobuta, H; Nobuta, H; Cilio, MR; Cilio, MR; Danhaive, O; Tsai, HH; et al.(2015). Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathologica. doi: 10.1007/s00401-015-1441-0. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3qc1s561
Publication Year :: 2015
Publisher :: eScholarship, University of California, 2015.
Abstract: © 2015 The Author(s) 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 (

Language :: English
Database :: OpenAIRE
Journal :: Nobuta, H; Nobuta, H; Cilio, MR; Cilio, MR; Danhaive, O; Tsai, HH; et al.(2015). Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathologica. doi: 10.1007/s00401-015-1441-0. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3qc1s561
Accession number :: edsair.od.......325..c8f3c84de071508b718dc321714d504e
Full Text :: https://doi.org/10.1007/s00401-015-1441-0.

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