FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine morphogenesis, and with mGluR1/5 and Homer to regulate mGluR1/5 signaling. We report the genetic and functional characterization of 4 FRMPD4 deleterious mutatio...

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Publicat a:Hum Mol Genet
Autors principals: Piard, Juliette, Hu, Jia-Hua, Campeau, Philippe M, Rzońca, Sylwia, Van Esch, Hilde, Vincent, Elizabeth, Han, Mei, Rossignol, Elsa, Castaneda, Jennifer, Chelly, Jamel, Skinner, Cindy, Kalscheuer, Vera M, Wang, Ruihua, Lemyre, Emmanuelle, Kosińska, Joanna, Stawinski, Piotr, Bal, Jerzy, Hoffman, Dax A, Schwartz, Charles E, Van Maldergem, Lionel, Wang, Tao, Worley, Paul F
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886117/
https://ncbi.nlm.nih.gov/pubmed/29267967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx426
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