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

Small-molecule dissolution of stress granules by redox modulation benefits ALS models.

通过氧化还原调节溶解应激颗粒的小分子对 ALS 模型有益。

Uechi Hiroyuki, Sridharan Sindhuja, Nijssen Jik, Bilstein Jessica, Iglesias-Artola Juan M, Kishigami Satoshi, Casablancas-Antras Virginia, Poser Ina, Martinez Eduardo J, Boczek Edgar, Wagner Michael, Tomschke Nadine, de Jesus Domingues António M, Pal Arun, Doeleman Thom, Kour Sukhleen, Anderson Eric Nathaniel, Stein Frank, Lee Hyun O, Zhang Xiaojie, Fritsch Anatol W, Jahnel Marcus, Fürsch Julius, Murthy Anastasia C, Alberti Simon, Bickle Marc, Fawzi Nicolas L, Nadler André, David Della C, Pandey Udai B, Hermann Andreas, Stengel Florian, Davis Benjamin G, Baldwin Andrew J, Savitski Mikhail M, Hyman Anthony A, Wheeler Richard J

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异会导致一种复杂的神经发育障碍

Planas-Serra, Laura; Rodríguez-Ruiz, Mar; Anderson, Eric Nathaniel; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Schlüter, Agatha; Verdura, Edgard; Gereñu, Gorka; Jiménez-Zúñiga, Andrés; Iñañez, Alejandro; Casas, Josefina; Bech, Joan Josep; De La Torre, Carolina; Martínez, Juan José; Ruiz, Montserrat; Fourcade, Stéphane; Iascone, Maria; Tenconi, Romano; Meier, Kolja; Diegmann, Susann; Lee, Reagan H C; Beland, Bakht; Mir, Asif; Darvish, Hossein; Chung, Wendy; Karimiani, Ehsan Ghayoor; Leal, Suzanne M; Schrauwen, Isabelle; Öhman, Susanna; Järvelä, Irma; Granvik, Johanna; Reinson, Karit; Kurvinen, Elvira; Õunap, Katrin; Schwan, Annemarie; Platzer, Konrad; Kalayci, Tuğba; Sharifi, Shahrashoub; Korenke, G Christoph; Houlden, Henry; Maroofian, Reza; López de Munaín, Adolfo; Casasnovas, Carlos; Pandey, Udai Bhan; Pujol, Aurora

HuD impairs neuromuscular junctions and induces apoptosis in human iPSC and Drosophila ALS models

HuD 会损害神经肌肉接头并诱导人类 iPSC 和果蝇 ALS 模型中的细胞凋亡

Beatrice Silvestri, Michela Mochi, Darilang Mawrie, Valeria de Turris, Alessio Colantoni, Beatrice Borhy, Margherita Medici, Eric Nathaniel Anderson, Maria Giovanna Garone, Christopher Patrick Zammerilla, Marco Simula, Monica Ballarino, Udai Bhan Pandey, Alessandro Rosa

HuD (ELAVL4) gain-of-function impairs neuromuscular junctions and induces apoptosis in in vitro and in vivo models of amyotrophic lateral sclerosis

HuD(ELAVL4)功能获得性损害神经肌肉接头并在肌萎缩侧索硬化症的体外和体内模型中诱导细胞凋亡

Beatrice Silvestri, Michela Mochi, Darilang Mawrie, Valeria de Turris, Alessio Colantoni, Beatrice Borhy, Margherita Medici, Eric Nathaniel Anderson, Maria Giovanna Garone, Christopher Patrick Zammerilla, Udai Bhan Pandey, Alessandro Rosa

FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy

ALS 中的 FUS 病理与多种 ALS 相关蛋白的改变有关,可通过刺激自噬的药物来挽救

Lara Marrone, Hannes C A Drexler, Jie Wang, Priyanka Tripathi, Tania Distler, Patrick Heisterkamp, Eric Nathaniel Anderson, Sukhleen Kour, Anastasia Moraiti, Shovamayee Maharana, Rajat Bhatnagar, T Grant Belgard, Vadreenath Tripathy, Norman Kalmbach, Zohreh Hosseinzadeh, Valeria Crippa, Masin Abo-Ra