SHANK3 Gene Mutations Associated with Autism Facilitate Ligand Binding to the Shank3 Ankyrin Repeat Region

Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders. We have analyzed the functional relevance of several SHANK3 missense mutations affecting the N-terminal portion...

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Hlavní autoři: Mameza, Marie Germaine, Dvoretskova, Elena, Bamann, Margarete, Hönck, Hans-Hinrich, Güler, Türkan, Boeckers, Tobias M., Schoen, Michael, Verpelli, Chiara, Sala, Carlo, Barsukov, Igor, Dityatev, Alexander, Kreienkamp, Hans-Jürgen
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2013
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3772216/
https://ncbi.nlm.nih.gov/pubmed/23897824
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.424747
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