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Biochem Biophys Res Commun. 2009 Nov 13;389(2):279-83. doi: 10.1016/j.bbrc.2009.08.133. Epub 2009 Aug 28.

Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation.

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  • 1Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.


Muscular dystrophy and peripheral neuropathy have been linked to mutations in genes encoding nuclear envelope proteins; however, the molecular mechanisms underlying these disorders remain unresolved. Nuclear envelope protein p19A is a protein of unknown function encoded by a gene at chromosome 4q35. p19A levels are significantly reduced in human muscle as cells differentiate from myoblasts to myotubes; however, its levels are not similarly reduced in all differentiation systems tested. Because 4q35 has been linked to facioscapulohumeral muscular dystrophy (FSHD) and some adjacent genes are reportedly misregulated in the disorder, levels of p19A were analyzed in muscle samples from patients with FSHD. Although p19A was increased in most cases, an absolute correlation was not observed. Nonetheless, p19A downregulation in normal muscle differentiation suggests that in the cases where its gene is inappropriately re-activated it could affect muscle differentiation and contribute to disease pathology.

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