Article
A knockin mouse model for human ATP4aR703C mutation identified in familial gastric neuroendocrine tumors recapitulates the premalignant condition of the human disease and suggests new therapeutic strategies.
Disease models & mechanisms - 1 Sept 2016
Calvete Oriol, Varro Andrea, Pritchard D Mark, Barroso Alicia, Oteo Marta, Morcillo Miguel Ángel, Vargiu Pierfrancesco, Dodd Steven, Garcia Miriam, Reyes José, Ortega Sagrario, Benitez Javier
Abstract excerpt
By whole exome sequencing, we recently identified a missense mutation (p.R703C) in the human ATP4a gene, which encodes the proton pump responsible for gastric acidification. This mutation causes an aggressive familial type I gastric neuroendocrine tumor in homozygous individuals. Affected individuals show an early onset of the disease, characterized by gastric hypoacidity, hypergastrinemia, iron-deficiency...
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