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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: The Royal Society 2014
主題:
Part III: Synaptic plasticity and brain disorders
オンライン･アクセス: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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