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Article

Loss of junctophilin‐3 contributes to huntington disease‐like 2 pathogenesis

17 Aug 2011

Abstract excerpt

OBJECTIVE: 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...

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PMID: 22367996
DOI: 10.1002/ana.22598

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