Article
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
Human molecular genetics - 1 Oct 2016
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
Abstract excerpt
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 impairment of GABAergic neurotransmission caused by altered vitamin B6 (vit-B6) metabolism. However, clinical cases in human...
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