Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders

Shank proteins are major scaffolds of the postsynaptic density of excitatory synapses. Mutations in SHANK genes are associated with autism and intellectual disability. The effects of missense mutations on Shank3 function, and therefore the pathomechanisms are unclear. Several missense mutations in S...

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Detalles Bibliográficos
Autores principales: Woike, Daniel, Wang, Emily, Tibbe, Debora, Hassani Nia, Fatemeh, Failla, Antonio Virgilio, Kibæk, Maria, Overgård, Tinett Martesen, Larsen, Martin J., Fagerberg, Christina R., Barsukov, Igor, Kreienkamp, Hans-Jürgen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8766471/
https://www.ncbi.nlm.nih.gov/pubmed/35042901
http://dx.doi.org/10.1038/s41598-021-04723-5

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