Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missens...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Lamers, Ideke J.C., Reijnders, Margot R.F., Venselaar, Hanka, Kraus, Alison, Jansen, Sandra, de Vries, Bert B.A., Houge, Gunnar, Gradek, Gyri Aasland, Seo, Jieun, Choi, Murim, Chae, Jong-Hee, van der Burgt, Ineke, Pfundt, Rolph, Letteboer, Stef J.F., van Beersum, Sylvia E.C., Dusseljee, Simone, Brunner, Han G., Doherty, Dan, Kleefstra, Tjitske, Roepman, Ronald
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673605/
https://ncbi.nlm.nih.gov/pubmed/29106825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.015
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