Articles with "prrt2" as a keyword



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PRRT2 inhibits the proliferation of glioma cells by modulating unfolded protein response pathway.

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Published in 2017 at "Biochemical and biophysical research communications"

DOI: 10.1016/j.bbrc.2017.02.052

Abstract: Accumulating studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for several paroxysmal neurological disorders, including paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign… read more here.

Keywords: protein; unfolded protein; protein response; pathway ... See more keywords
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PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum

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Published in 2018 at "Cell Research"

DOI: 10.1038/cr.2017.128

Abstract: 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… read more here.

Keywords: paroxysmal kinesigenic; kinesigenic dyskinesia; cerebellum; mice ... See more keywords