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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002941/
https://www.ncbi.nlm.nih.gov/pubmed/21179557
http://dx.doi.org/10.1371/journal.pone.0014346

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