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- Title
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesis.
- Authors
Seixas, Ana I; Holmes, Susan E; Takeshima, Hiroshi; Pavlovich, Amira; Sachs, Nancy; Pruitt, Jennifer L; Silveira, Isabel; Ross, Christopher A; Margolis, Russell L; Rudnicki, Dobrila D
- Abstract
Huntington disease-like 2 (HDL2) is a progressive, late onset autosomal dominant neurodegenerative disorder, with remarkable similarities to Huntington disease (HD). HDL2 is caused by a CTG/CAG repeat expansion. In the CTG orientation, the repeat is located within the alternatively spliced exon 2A of junctophilin-3 (JPH3), potentially encoding polyleucine and polyalanine, whereas on the strand antisense to JPH3, the repeat is in frame to encode polyglutamine. The JPH3 protein product serves to stabilize junctional membrane complexes and regulate neuronal calcium flux. We have previously demonstrated the potential pathogenic properties of JPH3 transcripts containing expanded CUG repeats. The aim of this study was to test the possibility that loss of JPH3 expression or expanded amino acid tracts also contribute to HDL2 pathogenesis.
- Publication
Annals of neurology, 2012, Vol 71, Issue 2, p245
- ISSN
1531-8249
- Publication type
Journal Article
- DOI
10.1002/ana.22598