Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits

CACNA1I, a schizophrenia risk gene, encodes a subtype of voltage-gated T-type calcium channel Ca(V)3.3. We previously reported that a patient-derived missense de novo mutation (R1346H) of CACNA1I impaired Ca(V)3.3 channel function. Here, we generated Ca(V)3.3-RH knock-in animals, along with mice lac...

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Detalles Bibliográficos
Autores principales: Ghoshal, Ayan, Uygun, David S., Yang, Lingling, McNally, James M., Lopez-Huerta, Violeta G., Arias-Garcia, Mario A., Baez-Nieto, David, Allen, Andrew, Fitzgerald, Megan, Choi, Soonwook, Zhang, Qiangge, Hope, Jen M., Yan, Karena, Mao, Xiaohong, Nicholson, Thomas B., Imaizumi, Kazuo, Fu, Zhanyan, Feng, Guoping, Brown, Ritchie E., Strecker, Robert E., Purcell, Shaun M., Pan, Jen Q.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026444/
https://www.ncbi.nlm.nih.gov/pubmed/32066662
http://dx.doi.org/10.1038/s41398-020-0685-1

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