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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291194/
https://ncbi.nlm.nih.gov/pubmed/27466191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw248
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