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APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's disease pathology.
Chemparathy A, Le Guen Y, Chen S, Lee EG, Leong L, Gorzynski JE, Jensen TD, Ferrasse A, Xu G, Xiang H, Belloy ME, Kasireddy N, Peña-Tauber A, Williams K, Stewart I, Talozzi L, Wingo TS, Lah JJ, Jayadev S, Hales CM, Peskind E, Child DD, Roeber S, Keene CD, Cong L, Ashley EA, Yu CE, Greicius MD. Chemparathy A, et al. Neuron. 2024 Apr 3;112(7):1110-1116.e5. doi: 10.1016/j.neuron.2024.01.008. Epub 2024 Jan 31. Neuron. 2024. PMID: 38301647
A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E, Child DD, Bucks SA, Stovarsky M, Edwards G, Rose SE, Yu CE, Latimer C, Kitago Y, Bird T, Jayadev S, Andersen OM, Young JE. Fazeli E, et al. bioRxiv [Preprint]. 2023 Nov 13:2023.07.01.547348. doi: 10.1101/2023.07.01.547348. bioRxiv. 2023. Update in: Acta Neuropathol. 2024 Jan 20;147(1):20. doi: 10.1007/s00401-023-02670-1 PMID: 37461597 Free PMC article. Updated. Preprint.
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology.
Chemparathy A, Guen YL, Chen S, Lee EG, Leong L, Gorzynski J, Xu G, Belloy M, Kasireddy N, Tauber AP, Williams K, Stewart I, Wingo T, Lah J, Jayadev S, Hales C, Peskind E, Child DD, Keene CD, Cong L, Ashley E, Yu CE, Greicius MD. Chemparathy A, et al. medRxiv [Preprint]. 2023 Jul 24:2023.07.20.23292771. doi: 10.1101/2023.07.20.23292771. medRxiv. 2023. Update in: Neuron. 2024 Apr 3;112(7):1110-1116.e5. doi: 10.1016/j.neuron.2024.01.008 PMID: 37547016 Free PMC article. Updated. Preprint.