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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....
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| 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 |