Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system

Several forms of monogenic heritable autism spectrum disorders are associated with mutations in the neuroligin genes. The autism-linked substitution R451C in neuroligin3 induces local misfolding of its extracellular domain, causing partial retention in the ER (endoplasmic reticulum) of expressing ce...

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Detalles Bibliográficos
Autores principales: Ulbrich, Lisa, Favaloro, Flores Lietta, Trobiani, Laura, Marchetti, Valentina, Patel, Vruti, Pascucci, Tiziana, Comoletti, Davide, Marciniak, Stefan J., De Jaco, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747159/
https://www.ncbi.nlm.nih.gov/pubmed/26621873
http://dx.doi.org/10.1042/BJ20150274

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