2018/03/06 by Marco Lorenzi, André Altmann, Boris A. Gutman +9 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Endoplasmic Reticulum Stress and Disease #RNA regulation and disease #Autophagy in Disease and Therapy
paper · doi:10.1073/pnas.1706100115
openalex publication_date 2018/03/06 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
Significance In this study, we use an experimental imaging–genetics approach for investigating the genetic underpinnings of brain atrophy in Alzheimer’s disease. We successfully combined state-of-the-art imaging–genetics methods and experimental gene expression data to uncover biology in brain atrophy. The experimental paradigm highlighted a significant role of tribbles pseudokinase 3 ( TRIB3 ) in modulating the typical pattern of Alzheimer’s brain pathology. This result corroborates through rigorous data-driven statistical methods evidence emerging from previous studies about the role of TRIB3 in modulating known mechanisms of neurodegeneration, such as neuronal death, cellular homeostasis, and interaction with established genes causing autosomal dominant Alzheimer’s disease: APP and PSEN1 . The developed integrated statistical–experimental methodology could serve as a roadmap for investigations in other disorders.