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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…
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Keywords:
protein;
unfolded protein;
protein response;
pathway ... See more keywords
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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…
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Keywords:
paroxysmal kinesigenic;
kinesigenic dyskinesia;
cerebellum;
mice ... See more keywords