Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations

Autor: Yingzi Liu, Xuewen Xiao, Hui Liu, Xinxin Liao, Yafang Zhou, Ling Weng, Lu Zhou, Xixi Liu, Xiang-yun Bi, Tianyan Xu, Yuan Zhu, Qijie Yang, Sizhe Zhang, Xiaoli Hao, Weiwei Zhang, Junling Wang, Bin Jiao, Lu Shen

Publikováno v: Frontiers in Aging Neuroscience, Vol 14 (2022)

Alzheimer’s disease (AD) is a progressive neurodegenerative disease associated with aging, environmental, and genetic factors. Amyloid protein precursor (APP) is a known pathogenic gene for familial Alzheimer’s disease (FAD), and now more than 70

Externí odkaz: https://doaj.org/article/355f44e5425540de8be52e1acf98d808

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Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease

Autor: Anna Richardson, Nancy Allen, Matthew Jones, David M. A. Mann, Takeshi Iwatsubo, Annie Laquerrière, Julie S. Snowden, Neil Pendleton, Marie-Claude Potier, Andre Strydom, Andrew C Robinson, Yvonne S Davidson, Vee P. Prasher, Tadafumi Hashimoto

Publikováno v: Acta Neuropathologica
Acta Neuropathologica, 2018, Epub ahead of print]. ⟨10.1007/s00401-018-1866-3⟩
Acta Neuropathologica, Springer Verlag, 2018, Epub ahead of print]. ⟨10.1007/s00401-018-1866-3⟩
Mann, D M A, Davidson, Y S, Robinson, A C, Allen, N, Hashimoto, T, Richardson, A, Jones, M, Snowden, J S, Pendleton, N, Potier, M-C, Laquerrière, A, Prasher, V, Iwatsubo, T & Strydom, A 2018, ' Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease ', Acta Neuropathologica . https://doi.org/10.1007/s00401-018-1866-3

In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ff9cec80ea1d742bcf43ac43ae2538
https://hal.sorbonne-universite.fr/hal-01795643

Mutations of beta-amyloid precursor protein alter the consequence of Alzheimer’s disease pathogenesis

Autor: Huan-Huan Zhang, Hiroshi Nakanishi, Hong Qing, Nuomin Li, Kefu Liu, Yun-Jie Qiu

Publikováno v: Neural Regeneration Research, Vol 14, Iss 4, Pp 658-665 (2019)
Neural Regeneration Research

Alzheimer’s disease is pathologically defined by accumulation of extracellular amyloid-β (Aβ). Approximately 25 mutations in β-amyloid precursor protein (APP) are pathogenic and cause autosomal dominant Alzheimer’s disease. To date, the mechan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16c6b85a0c965d304446f0d243baba87
https://doi.org/10.4103/1673-5374.247469