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Updated: Aug 11, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Published on: October 10, 2022
Association study of the Ubiquilin gene with Alzheimer's disease
Faiza Bensemain1, Julien Chapuis, Jinzhou Tian
1INSERM U744, Institut Pasteur de Lille, Université de Lille 2, Lille, BP 245, 5019 Lille Cédex, France.
Abstract:
Recently, the ubiquilin 1 gene has been proposed as a major candidate gene for AD. Here, we have investigated the potential impact of the UBQ-8i polymorphism (rs12344615) within this gene on the risk of developing AD. No association of this polymorphism with the disease was observed in a large French case-control population. Furthermore, no relationship between this polymorphism and Abeta load or degree of neurofibrillary degeneration in the brains of 114 patients with AD was detected.
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