Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation

Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures. Initially, these seizures were attributed to the impairme...

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Detalles Bibliográficos
Autores principales: Sebastián-Serrano, Álvaro, Engel, Tobias, de Diego-García, Laura, Olivos-Oré, Luis A., Arribas-Blázquez, Marina, Martínez-Frailes, Carlos, Pérez-Díaz, Carmen, Millán, José Luis, Artalejo, Antonio R., Miras-Portugal, María Teresa, Henshall, David C., Díaz-Hernández, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291194/
https://www.ncbi.nlm.nih.gov/pubmed/27466191
http://dx.doi.org/10.1093/hmg/ddw248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291194/
https://www.ncbi.nlm.nih.gov/pubmed/27466191
http://dx.doi.org/10.1093/hmg/ddw248

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