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

• Main Authors: Oriol Calvete (Author), Andrea Varro (Author), D. Mark Pritchard (Author), Alicia Barroso (Author), Marta Oteo (Author), Miguel Ángel Morcillo (Author), Pierfrancesco Vargiu (Author), Steven Dodd (Author), Miriam Garcia (Author), José Reyes (Author), Sagrario Ortega (Author), Javier Benitez (Author)
• Format: Book
• Published: The Company of Biologists, 2016-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 individual...