Article
The ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositis.
PloS one - 13 Feb 2008
Delaunay Agnès, Bromberg Kenneth D, Hayashi Yukiko, Mirabella Massimiliano, Burch Denise, Kirkwood Brian, Serra Carlo, Malicdan May C, Mizisin Andrew P, Morosetti Roberta, Broccolini Aldobrando, Guo Ling T, Jones Stephen N, Lira Sergio A, Puri Pier Lorenzo, Shelton G Diane, Ronai Ze'ev
Abstract excerpt
Growing evidence supports the importance of ubiquitin ligases in the pathogenesis of muscular disorders, although underlying mechanisms remain largely elusive. Here we show that the expression of RNF5 (aka RMA1), an ER-anchored RING finger E3 ligase implicated in muscle organization and in recognition and processing of malfolded proteins, is elevated and mislocalized to cytoplasmic aggregates in biopsies from...
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