Rare loss-of-function variants in the lipid transporter ABCA7 are among the strongest genetic risk factors for Alzheimer's disease. However, the mechanisms by which these variants increase risk and their relevance to the larger at-risk population remain largely unknown, limiting therapeutic development.
ABCA7 Loss of Function Variants Disrupt Neuronal Lipid Metabolism and Respiration / D. K Von Maydell, S. Wright, C. Staab, P. Pao, O. King, J. Maeve Bonner, A. Spitaleri, L. Liu, C. Chiu, D. Leible, C. Jong Yu, A. Ni Scannail, M. Li, C. A Boix, H. Mathys, G. Leclerc, G. Suella Menchaca, G. Welch, A. Graziosi, N. Leary, G. Samaan, M. Kellis, L. Tsai. - In: ALZHEIMER'S & DEMENTIA. - ISSN 1552-5260. - 21:Supplment 1(2025 Dec 23), pp. e103044.1-e103044.2. [10.1002/alz70855_103044]
ABCA7 Loss of Function Variants Disrupt Neuronal Lipid Metabolism and Respiration
A. Spitaleri;A. Graziosi;
2025
Abstract
Rare loss-of-function variants in the lipid transporter ABCA7 are among the strongest genetic risk factors for Alzheimer's disease. However, the mechanisms by which these variants increase risk and their relevance to the larger at-risk population remain largely unknown, limiting therapeutic development.
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