The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family

Molecular and Cellular Neurosciences - Tập 120 - Trang 103715 - 2022
Haitao Li1, Yu Li2, Wenping Liang2, Zheng Z. Wei1, Xuanyu Li1, Yuanruhua Tian1, Shanshan Qiao1, Yishu Yang1, Liu Yang1, Dongyue Wu3, Wei Yin4, Honglin Liu1, Wei Zhang1, Yongbo Zhang1, Zhe Wang2
1Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
2Advanced Innovation Center for Human Brain Protection, The National Clinical Research Center for Geriatric Disease, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China
3Department of Traditional Chinese Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
4Department of Imaging, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China

Tài liệu tham khảo

Arboleda-Velasquez, 2019, Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report, Nat. Med., 25, 1680, 10.1038/s41591-019-0611-3 Dubois, 2016, Preclinical Alzheimer’s disease: definition, natural history, and diagnostic criteria, Alzheimers Dement., 12, 292, 10.1016/j.jalz.2016.02.002 Eratne, 2018, Alzheimer's disease: clinical update on epidemiology, pathophysiology and diagnosis, Australas Psychiatry, 26, 347, 10.1177/1039856218762308 Frykman, 2017, Maturation and processing of the amyloid precursor protein is regulated by the potassium/sodium hyperpolarization-activated cyclic nucleotide-gated ion channel 2 (HCN2), Biochem. Biophys. Res. Commun., 483, 352, 10.1016/j.bbrc.2016.12.140 Jack, 2018, NIA-AA research framework: toward a biological definition of Alzheimer’s disease, Alzheimers Dement., 14, 535, 10.1016/j.jalz.2018.02.018 Kerchner, 2012, Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease, Neurosci. Lett., 531, 142, 10.1016/j.neulet.2012.10.037 Oikawa, 2019, Presenilins and γ-secretase in membrane proteostasis, Cells, 8, 10.3390/cells8030209 Sun, 2017, Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase, Proc. Natl. Acad. Sci. U. S. A., 114, E476, 10.1073/pnas.1618657114 Szaruga, 2017, Alzheimer's-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions, Cell, 170, 443, 10.1016/j.cell.2017.07.004