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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Royal Society 2014
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Part III: Synaptic plasticity and brain disorders
Accesso online: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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