Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

Although genetic variations in several genes encoding for synaptic adhesion proteins have been found to be associated with autism spectrum disorders, one of the most consistently replicated genes has been CNTNAP2, encoding for contactin-associated protein-like 2 (CASPR2), a multidomain transmembrane...

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Bibliographic Details
Main Authors: Falivelli, Giulia, De Jaco, Antonella, Favaloro, Flores Lietta, Kim, Hyuck, Wilson, Jennifer, Dubi, Noga, Ellisman, Mark H., Abrahams, Brett S., Taylor, Palmer, Comoletti, Davide
Format: Artigo
Language:Inglês
Published: Oxford University Press 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3471401/
https://ncbi.nlm.nih.gov/pubmed/22872700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds320
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