A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

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, suggesting that c...

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Main Authors: Anthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie Maduro, Chani J Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L Bessling, William J Pavan, Andrew S McCallion, James R Lupski, Eric D Green, NISC Comparative Sequencing Program
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-12-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3002941?pdf=render