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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2.

Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine ( GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 ( PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.[1]

References

  1. Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. Becher, M.W., Kotzuk, J.A., Davis, L.E., Bear, D.G. Ann. Neurol. (2000) [Pubmed]
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