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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Biochemistry and Molecular Biology 2013
Aiheet:
Molecular Bases of Disease
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia