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PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum
Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological diseases, but the PRRT2 function and pathogenic mechanisms remain largely obscure. Here we show that PRRT2 is a presynaptic protein that...
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Gepubliceerd in: | Cell Res |
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Hoofdauteurs: | , , , , , , , , , , , , , , , , , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
Nature Publishing Group
2018
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Onderwerpen: | |
Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5752836/ https://ncbi.nlm.nih.gov/pubmed/29056747 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cr.2017.128 |
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