Article

How PTEN mutations degrade function at the membrane and life expectancy of carriers of mutations in the human brain

2023-01-27

Abstract excerpt

PTEN dysfunction, caused by loss of lipid phosphatase activity or deletion, promotes pathologies, cancer, benign tumors, and neurodevelopmental disorders (NDDs). Despite efforts, exactly how the mutations trigger distinct phenotypic outcomes, cancer or NDD, has been puzzling. It has also been unclear how to distinguish between mutations harbored by isoforms, are they cancer or NDDs-related. Here we address both. W...

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Literature Corpus work: ebf4fb39-e231-5721-9607-2933809f3b71
DOI: 10.1101/2023.01.26.525746

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