A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function

MINT2/APBA2 is a synaptic adaptor protein involved in excitatory synaptic transmission. Several nonsynonymous coding variants in MINT2 have been identified in autism spectrum disorders (ASDs); however, these rare variants have not been examined functionally and the pathogenic mechanisms are unknown....

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Detalles Bibliográficos
Autores principales: Lin, Amy Y., Henry, Shawna, Reissner, Carsten, Neupert, Christian, Kenny, Connor, Missler, Markus, Beffert, Uwe, Ho, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465354/
https://www.ncbi.nlm.nih.gov/pubmed/30988517
http://dx.doi.org/10.1038/s41598-019-42635-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465354/
https://www.ncbi.nlm.nih.gov/pubmed/30988517
http://dx.doi.org/10.1038/s41598-019-42635-7

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