A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo

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, sugge...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002941/
https://ncbi.nlm.nih.gov/pubmed/21179557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0014346
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