Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane’s retraction syndrome

The RacGAP molecule α2-chimaerin is implicated in neuronal signaling pathways required for precise guidance of developing corticospinal axons. We now demonstrate that a variant of Duane’s retraction syndrome, a congenital eye movement disorder in which affected individuals show aberrant development...

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Detalhes bibliográficos
Main Authors: Miyake, Noriko, Chilton, John, Psatha, Maria, Cheng, Long, Andrews, Caroline, Chan, Wai-Man, Law, Krystal, Crosier, Moira, Lindsay, Susan, Cheung, Michelle, Allen, James, Gutowski, Nick J, Ellard, Sian, Young, Elizabeth, Iannaccone, Alessandro, Appukuttan, Binoy, Stout, J. Timothy, Christiansen, Stephen, Ciccarelli, Maria Laura, Baldi, Alfonso, Campioni, Mara, Zenteno, Juan C., Davenport, Dominic, Mariani, Laura E., Sahin, Mustafa, Guthrie, Sarah, Engle, Elizabeth C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2593867/
https://ncbi.nlm.nih.gov/pubmed/18653847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1156121
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