Original paper
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1
Abstract
Key points Mutations in the gene encoding poly(A)‐binding protein nuclear 1 (PABPN1) result in oculopharyngeal muscular dystrophy (OPMD). This disease is of late‐onset, but the underlying mechanism is unclear. Ca 2+ stimulates muscle growth and contraction and, because OPMD courses with muscle atrophy and weakness, we hypothesized that the homeostasis of Ca 2+ is altered in this disorder. C2C12 myotubes were transfected with cDNAs encoding...
Paper Details
Title
Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1
Published Date
Apr 25, 2017
Journal
Volume
595
Issue
13
Pages
4167 - 4187
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Notes
History