Article ID Journal Published Year Pages File Type
10763626 Biochemical and Biophysical Research Communications 2011 6 Pages PDF
Abstract
► We identified two abnormal splicing events for actinin-associated LIM protein 3 (PDLIM3/ALP) and fibronectin 1 (FN1) in the skeletal muscles of DM1 patients. ► From the analysis of the abnormal PDLIM3 splicing, we propose that ZASP-like motif-deficient PDLIM3 causes the muscular symptoms in DM. ► In adult humans, PDLIM3 expression is highest in skeletal muscles, and PDLIM3 splicing in skeletal muscles is regulated during human development.
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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Preview
Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy
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