Article
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
PloS one - 16 Dec 2010
Antonellis Anthony, Dennis Megan Y, Burzynski Grzegorz, Huynh Jimmy, Maduro Valerie, Hodonsky Chani J, Khajavi Mehrdad, Szigeti Kinga, Mukkamala Sandeep, Bessling Seneca L, Pavan William J, McCallion Andrew S, Lupski James R, Green Eric D
Abstract excerpt
BACKGROUND: Myelin protein zero (MPZ) is a critical structural component of myelin in the peripheral nervous system. The MPZ gene is regulated, in part, by the transcription factors SOX10 and EGR2. Mutations in MPZ, SOX10, and EGR2 have been implicated in demyelinating peripheral neuropathies, su...
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