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Figure 5 | Skeletal Muscle

Figure 5

From: Control of mRNA stability contributes to low levels of nuclear poly(A) binding protein 1 (PABPN1) in skeletal muscle

Figure 5

Low levels of nuclear poly(A) binding protein 1 (PABPN1) in skeletal muscle maypredispose this tissue to the deleterious effects of alanine-expandedPABPN1. We show muscle has lower levels of PABPN1 compared to other tissuesin normal individuals (N) but these levels are adequate for normal tissuefunction. In patients with oculopharyngeal muscular dystrophy (OPMD), functionallevels of PABPN1 could be decreased in all tissues due to expression of mutantPABPN1. However, muscle-specific pathology ensues in autosomal dominant OPMDbecause the levels of PABPN1 fall below the threshold required to maintain propertissue function.

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