A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling

The genetic etiology and underlying mechanism of autism spectrum disorder (ASD) remain elusive. SHANK family genes (SHANK1/2/3) are well known ASD-related genes. However, little is known about how SHANK missense mutations contribute to ASD. Here, we aimed to clarify the molecular mechanism of and th...

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Detalles Bibliográficos
Autores principales: Qin, Yue, Du, Yasong, Chen, Liqiang, Liu, Yanyan, Xu, Wenjing, Liu, Ying, Li, Ying, Leng, Jing, Wang, Yalan, Zhang, Xiao-Yong, Feng, Jianfeng, Zhang, Feng, Jin, Li, Qiu, Zilong, Gong, Xiaohong, Wang, Hongyan
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/PMC9205781/
https://www.ncbi.nlm.nih.gov/pubmed/35388181
http://dx.doi.org/10.1038/s41380-022-01539-1

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