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

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction

对原发性患者成纤维细胞中二氢硫辛酰胺脱氢酶缺乏症的深入分析揭示了继发于线粒体功能障碍的代谢重编程。

Sprecher, Uri; Dsouza, Jeevitha; Marisat, Monzer; Barasch, Dinorah; Mishra, Kumudesh; Kakhlon, Or; Manor, Joshua; Anikster, Yair; Weil, Miguel

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

致命性癫痫拉福拉病的支链淀粉病抵抗自噬性糖原分解代谢

Wu, Jun; Kakhlon, Or; Weil, Miguel; Lossos, Alexander; Minassian, Berge A

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis

自噬激活剂 GHF-201 可缓解小鼠模型和 III 型糖原贮积症患者成纤维细胞的病理变化。

Mishra, Kumudesh; Sweetat, Sahar; Baraghithy, Saja; Sprecher, Uri; Marisat, Monzer; Bastu, Sultan; Glickstein, Hava; Tam, Joseph; Rosenmann, Hanna; Weil, Miguel; Malfatti, Edoardo; Kakhlon, Or

Publisher Correction: ATP-citrate lyase promotes axonal transport across species

出版商更正:ATP柠檬酸裂解酶促进跨物种轴突运输

Even, Aviel; Morelli, Giovanni; Turchetto, Silvia; Shilian, Michal; Bail, Romain Le; Laguesse, Sophie; Krusy, Nathalie; Brisker, Ariel; Brandis, Alexander; Inbar, Shani; Chariot, Alain; Saudou, Frédéric; Dietrich, Paula; Dragatsis, Ioannis; Brone, Bert; Broix, Loïc; Rigo, Jean-Michel; Weil, Miguel; Nguyen, Laurent

Editorial: Using Small Molecules to Treat Macromolecule Storage Disorders

社论:利用小分子治疗大分子贮积症

Kakhlon, Or; Escriba, Pablo V; Akman, Hasan O; Weil, Miguel

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease

一种新型的基于图像的高通量筛选方法发现了成人多聚葡萄糖体疾病的治疗候选药物。

Solmesky, Leonardo J; Khazanov, Netaly; Senderowitz, Hanoch; Wang, Peixiang; Minassian, Berge A; Ferreira, Igor M; Yue, Wyatt W; Lossos, Alexander; Weil, Miguel; Kakhlon, Or

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia

IKAP/hELP1缺陷对分化神经母细胞瘤细胞基因表达的影响:对家族性自主神经功能障碍的意义

Cohen-Kupiec, Rachel; Pasmanik-Chor, Metsada; Oron-Karni, Varda; Weil, Miguel

Thymic involution, a co-morbidity factor in amyotrophic lateral sclerosis

胸腺退化是肌萎缩侧索硬化症的合并症之一

Seksenyan, Akop; Ron-Harel, Noga; Azoulay, David; Cahalon, Liora; Cardon, Michal; Rogeri, Patricia; Ko, Minhee K; Weil, Miguel; Bulvik, Shlomo; Rechavi, Gideon; Amariglio, Ninette; Konen, Eli; Koronyo-Hamaoui, Maya; Somech, Raz; Schwartz, Michal

IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression.

神经母细胞瘤细胞中 IKAP/hELP1 下调导致接触蛋白过度表达介导的细胞粘附增强

Cohen-Kupiec Rachel, Weinstein Shiri, Kantor Gal, Peer Dan, Weil Miguel