Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway

Loss-of-function mutations in the gene encoding for the RhoGAP protein of oligophrenin-1 (OPHN1) lead to cognitive disabilities (CDs) in humans, yet the underlying mechanisms are not known. Here, we show that in mice constitutive lack of Ophn1 is associated with dysregulation of the cyclic adenosine...

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Bibliografiska uppgifter
Huvudupphovsmän: Khelfaoui, Malik, Gambino, Frédéric, Houbaert, Xander, Ragazzon, Bruno, Müller, Christian, Carta, Mario, Lanore, Frédéric, Srikumar, Bettadapura N., Gastrein, Philippe, Lepleux, Marilyn, Zhang, Chun-Lei, Kneib, Marie, Poulain, Bernard, Reibel-Foisset, Sophie, Vitale, Nicolas, Chelly, Jamel, Billuart, Pierre, Lüthi, Andreas, Humeau, Yann
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Royal Society 2014
Ämnen:
Part III: Synaptic plasticity and brain disorders
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3843891/
https://ncbi.nlm.nih.gov/pubmed/24298161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1098/rstb.2013.0160
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