Article
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.
Disease models & mechanisms - 17 Jan 2018
Calpena Eduardo, López Del Amo Víctor, Chakraborty Mouli, Llamusí Beatriz, Artero Rubén, Espinós Carmen, Galindo Máximo I
Abstract excerpt
Members of the Junctophilin (JPH) protein family have emerged as key actors in all excitable cells, with crucial implications for human pathophysiology. In mammals, this family consists of four members (JPH1-JPH4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and...
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