Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.

ABSTRACT:

Context

The pathogenic effect of mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene (AIPmuts) in pituitary adenomas is incompletely understood. We have identified the primary mechanism of loss of function for missense AIPmuts.

Objective

This study sought to analyze the mechanism/speed of protein turnover of wild-type and missense AIP variants, correlating protein half-life with clinical parameters.

Design and setting

Half-life and protein-protein interaction experiments and cross-sectional analysis of AIPmut positive patients' data were performed in a clinical academic research institution.

Patients

Data were obtained from our cohort of pituitary adenoma patients and literature-reported cases.

Interventions

Protein turnover of endo

SUBMITTER: Hernandez-Ramirez LC 

PROVIDER: S-EPMC4971335 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature