@article{oai:air.repo.nii.ac.jp:00003226,
 author = {Kubota, Hiroki and Noguchi, Atsuko and Yano, Tamami and Kondo, Daiki and TAKAHASHI, Tsutomu},
 issue = {3/4},
 journal = {秋田医学, AKITA JOURNAL OF MEDICINE},
 month = {Mar},
 note = {Familial paroxysmal kinesigenic dyskinesia (PKD) is an episodic involuntary movement disorder characterized by recurrent and brief attacks induced by sudden voluntary movement.　Prolinerich transmembrane protein 2 (PRRT2) has been identified as a gene responsible for PKD and its related disorders.　Recently, the protein encoded by PRRT2 was identified as a synaptic protein with a regulatory role in neurotransmitter release, which indicated that PKD may be a synaptopathy.　At present, more than 50 PRRT2 mutations have been identified, but the molecular mechanisms underlying the heterozygous mutations that cause the disorder remain unclear.　A novel PRRT2 mutation, c.649delC (p.R217Efs*12), was identified as a heterozygous allele in one of two Japanese families with PKD.　The mutation encodes a truncated PRRT2 protein, which consists of 216 amino acid residues compared to the full length protein of 429 amino acid residues.　To examine the subcellular localization of the wild and mutant PRRT2 proteins, we induced the transient expression of the PRRT2 protein fused with fluorescent proteins, pAcGFP1-C1 and pDsRed-monomer-C1, in COS7 cells.　Although the transient intracellular expression of wild PRRT2 protein fused with pAcGFP1-C1 confirmed its subcellular localization at the cell membrane, the mutant p.R217Efs*12 PRRT2 protein fused with pDsRed-monomer-C1 was detected in the cytosol and nucleus of COS7 cells.　In the co-transfection experiment, the mutant truncated PRRT2 protein did not inhibit the subcellular localization of the wild-type PRRT2 protein.　The results suggested that a heterozygous PRRT2 mutation might cause the disorder through a reduction in the amount of the prot ein encoded by the PRRT2 gene.},
 pages = {93--99},
 title = {AN INVESTIGATION OF MOLECULAR LESIONS IN TWO JAPANESE FAMILIES WITH FAMILIAL PAROXYSMAL KINESIGENIC DYSKINESIA},
 volume = {44},
 year = {2018}
}