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

Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.

溶酶体基因 ATP13A2 和 GBA1 相互作用,导致神经退行性变。

Gu Mingxue, Zhao Jinghan, Deng Mingxi, Lin Guang, Pan Xueyang, Lin Wenwen, Ma Mengqi, Kim Jinyong, Byeon Seul Kee, Pandey Akhilesh, Lange Lara M, Shaw Chad A, Kim Jonggeol, Trinh Joanne, Klein Christine, Kanca Oguz, Shulman Joshua M, Bellen Hugo J

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

利用深度临床表型分析和果蝇模型解析SLC6A1基因表达变异性

Jay, Kristy L; Gogate, Nikhita; Hall, Paige I; Ezell, Kimberly M; Andrews, Jonathan C; Jangam, Sharayu V; Pan, Hongling; Pham, Kelvin; German, Ryan; Gomez, Vanessa; Jellinek-Russo, Emily; Storch, Eric A; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J; Dierick, Herman A; Cogan, Joy D; Phillips, John A; Hamid, Rizwan; Cassini, Thomas; Rives, Lynette; Pruthi, Sumit; Chen, Hua-Chang; Posey, Jennifer E; Wangler, Michael F

Rab4 spatially and functionally converges with Rab7 in the degradative endolysosomal network.

Rab4 在降解性内溶酶体网络中,在空间和功能上与 Rab7 汇合。

Farmer Stephen M, Xu Shiyu, Yu Yue, Ye Xin, Yang Haoyi, Cai Jing, Rios Beatriz, Lin Wen-Wen, Covarrubias Daniela, Chuong Vicky, Ye Lili, Zylberberg German, Wang Charissa, Furr-Stimming Erin, Tong Qingchun, Kanca Oguz, Bellen Hugo J, Moore Travis I, Zhang Sheng

PICALM Alzheimer's risk allele causes aberrant lipid droplets in microglia

PICALM 阿尔茨海默病风险等位基因导致小胶质细胞中脂滴异常。

Alena Kozlova #,Siwei Zhang #,Ari Sudwarts #,Hanwen Zhang #,Stanislau Smirnou,Seul Kee Byeon,Christina Thapa,Xiaotong Sun,Kimberley Stephenson,Xiaojie Zhao,Brendan Jamison,Moorthi Ponnusamy,Xin He,Julie A Schneider,Akhilesh Pandey ,David A Bennett,Zhiping P Pang,Alan R Sanders,Hugo J Bellen ,Gopal Thinakaran,Jubao Duan

PICALM Alzheimer's risk allele causes aberrant lipid droplets in microglia.

PICALM 阿尔茨海默病风险等位基因导致小胶质细胞中出现异常脂滴。

Kozlova Alena, Zhang Siwei, Sudwarts Ari, Zhang Hanwen, Smirnou Stanislau, Byeon Seul Kee, Thapa Christina, Sun Xiaotong, Stephenson Kimberley, Zhao Xiaojie, Jamison Brendan, Ponnusamy Moorthi, He Xin, Schneider Julie A, Pandey Akhilesh, Bennett David A, Pang Zhiping P, Sanders Alan R, Bellen Hugo J, Thinakaran Gopal, Duan Jubao

Alzheimer's disease protective allele of Clusterin modulates neuronal excitability through lipid-droplet-mediated neuron-glia communication.

阿尔茨海默病保护性簇蛋白等位基因通过脂滴介导的神经元-胶质细胞通讯调节神经元兴奋性

Zhao Xiaojie, Li Yan, Zhang Siwei, Sudwarts Ari, Zhang Hanwen, Kozlova Alena, Moulton Matthew J, Goodman Lindsey D, Pang Zhiping P, Sanders Alan R, Bellen Hugo J, Thinakaran Gopal, Duan Jubao

APOA1 binding protein promotes lymphatic cell fate and lymphangiogenesis by relieving caveolae-mediated inhibition of VEGFR3 signaling.

APOA1 结合蛋白通过解除 Caveolae 介导的 VEGFR3 信号抑制来促进淋巴细胞命运和淋巴管生成。

Kim Jun-Dae, Chaudhary Surbhi, Chen Weiqing, Astin Jonathan, Crosier Philip S, Yu Pengchun, Cooke John P, Pownall Henry J, Bellen Hugo J, Le Nhat-Tu, Kiss Daniel L, Wang Guangyu, Rockson Stanley G, Chen Hong, Fang Longhou

Distinct systemic impacts of Aβ42 and Tau revealed by whole-organism snRNA-seq

全生物体snRNA测序揭示Aβ42和Tau蛋白不同的系统性影响

Ye-Jin Park ,Tzu-Chiao Lu ,Tyler Jackson ,Lindsey D Goodman ,Lindsey Ran ,Jiaye Chen ,Chung-Yi Liang ,Erin Harrison ,Christina Ko ,Xi Chen ,Baiping Wang ,Ao-Lin Hsu ,Elizabeth Ochoa ,Kevin F Bieniek ,Shinya Yamamoto ,Yi Zhu ,Hui Zheng ,Yanyan Qi ,Hugo J Bellen ,Hongjie Li

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco