日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect

与阿尔茨海默病相关的 CLN5 功能丧失变异会损害组织蛋白酶 D 的成熟,与逆转录酶运输缺陷相一致

Yasir H Qureshi, Vivek M Patel, Diego E Berman, Milankumar J Kothiya, Jessica L Neufeld, Badri Vardarajan, Min Tang, Dolly Reyes-Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne J Jiménez-Velázquez, Scott A Small, Christiane Reitz

APP intracellular domain-WAVE1 pathway reduces amyloid-β production

APP 胞内结构域-WAVE1 通路减少淀粉样β蛋白的产生

Ilaria Ceglia, Christiane Reitz, Jodi Gresack, Jung-Hyuck Ahn, Victor Bustos, Marina Bleck, Xiaozhu Zhang, Grant Martin, Sanford M Simon, Angus C Nairn, Paul Greengard, Yong Kim

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk

SORCS1 改变淀粉样蛋白前体蛋白的加工,其变体可能增加阿尔茨海默病的风险

Christiane Reitz, Shinya Tokuhiro, Lorraine N Clark, Christopher Conrad, Jean-Paul Vonsattel, Lili-Naz Hazrati, András Palotás, Raphael Lantigua, Martin Medrano, Ivonne Z Jiménez-Velázquez, Badri Vardarajan, Irene Simkin, Jonathan L Haines, Margaret A Pericak-Vance, Lindsay A Farrer, Joseph H Lee, E