Clinically relevant intronic splicing enhancer mutation in myelin proteolipid protein leads to progressive microglia and astrocyte activation in white and gray matter regions of the brain

INTRODUCTION: Mutations in proteolipid protein (PLP), the most abundant myelin protein in the CNS, cause the X-linked dysmyelinating leukodystrophies, Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2). Point mutations, deletion, and duplication of the PLP1 gene cause PMD/SPG2 w...

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Detalles Bibliográficos
Autores principales: Bachstetter, Adam D, Webster, Scott J, Van Eldik, Linda J, Cambi, Franca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906979/
https://www.ncbi.nlm.nih.gov/pubmed/24314267
http://dx.doi.org/10.1186/1742-2094-10-146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906979/
https://www.ncbi.nlm.nih.gov/pubmed/24314267
http://dx.doi.org/10.1186/1742-2094-10-146

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