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

Disruption of the SAGA CORE triggers collateral degradation of KAT2A.

SAGA CORE 的破坏会引发 KAT2A 的附带退化。

Batty Paul, Beneder Hannah, Schätz Caroline, Onea Gabriel, Zaczek Maciej, Kutschat Ana P, Abele Miriam, Müller Sophie, Superti-Furga Giulio, Winter Georg E, Seruggia Davide

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Stepwise ATP translocation into the endoplasmic reticulum by human SLC35B1.

人类 SLC35B1 将 ATP 逐步转运至内质网

Gulati Ashutosh, Ahn Do-Hwan, Suades Albert, Hult Yurie, Wolf Gernot, Iwata So, Superti-Furga Giulio, Nomura Norimichi, Drew David

Transcriptional and epigenetic rewiring by the NUP98::KDM5A fusion oncoprotein directly activates CDK12.

NUP98::KDM5A 融合癌蛋白通过转录和表观遗传重编程直接激活 CDK12

Troester Selina, Eder Thomas, Wukowits Nadja, Piontek Martin, Fernández-Pernas Pablo, Schmoellerl Johannes, Haladik Ben, Manhart Gabriele, Allram Melanie, Maurer-Granofszky Margarita, Scheidegger Nastassja, Nebral Karin, Superti-Furga Giulio, Meisel Roland, Bornhauser Beat, Valent Peter, Dworzak Michael N, Zuber Johannes, Boztug Kaan, Grebien Florian

Orpinolide disrupts a leukemic dependency on cholesterol transport by inhibiting OSBP

奥匹诺苷通过抑制OSBP来破坏白血病细胞对胆固醇转运的依赖性。

Marko Cigler ,Hana Imrichova ,Fabian Frommelt ,Lucie Caramelle ,Laura Depta ,Andrea Rukavina ,Chrysanthi Kagiou ,J Thomas Hannich ,Cristina Mayor-Ruiz ,Giulio Superti-Furga ,Sonja Sievers ,Alison Forrester ,Luca Laraia ,Herbert Waldmann ,Georg E Winter

Large-scale experimental assessment of variant effects on the structure and function of the citrate transporter SLC13A5.

大规模实验评估变异对柠檬酸转运蛋白 SLC13A5 的结构和功能的影响

Wang Wen-An, Ferrada Evandro, Klimek Christoph, Osthushenrich Tanja, MacNamara Aidan, Wiedmer Tabea, Superti-Furga Giulio

Image-based drug screening combined with molecular profiling identifies signatures and drivers of therapy resistance in pediatric AML

基于图像的药物筛选结合分子谱分析,可识别儿童急性髓系白血病(AML)的治疗耐药特征和驱动因素。

Ben Haladik ,Margarita Maurer-Granofszky ,Peter Zoescher ,Raul Jimenez-Heredia ,Alexandra Frohne ,Anna Segarra-Roca ,Chloe Casey ,Felix Kartnig ,Sarah Giuliani ,Christina Rashkova ,Peter Repiscak ,Michael N Dworzak ,Giulio Superti-Furga ,Kaan Boztug

Ex vivo imaging-based high content phenotyping of patients with rheumatoid arthritis

基于离体成像的类风湿关节炎患者高内涵表型分析

Felix Kartnig, Michael Bonelli, Ulrich Goldmann, Noemi Mészáros, Nikolaus Krall, Daniel Aletaha, Leonhard X Heinz, Giulio Superti-Furga

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

LRRC8C基因的新生突变导致通道持续激活,从而引发人类多系统疾病。

Mathieu Quinodoz # ,Sonja Rutz # ,Virginie Peter # ,Livia Garavelli # ,A Micheil Innes # ,Elena F Lehmann ,Stephan Kellenberger ,Zhong Peng ,Angelica Barone ,Belinda Campos-Xavier ,Sheila Unger ,Carlo Rivolta ,Raimund Dutzler ,Andrea Superti-Furga

The solute carrier superfamily interactome

溶质载体超家族相互作用组

Fabian Frommelt #,Rene Ladurner #,Ulrich Goldmann,Gernot Wolf,Alvaro Ingles-Prieto,Eva Lineiro-Retes,Zuzana Gelová,Ann-Katrin Hopp,Eirini Christodoulaki,Shao Thing Teoh,Philipp Leippe,Brianda L Santini,Manuele Rebsamen,Sabrina Lindinger,Iciar Serrano,Svenja Onstein,Christoph Klimek,Barbara Barbosa,Anastasiia Pantielieieva,Vojtech Dvorak,Thomas J Hannich,Julian Schoenbett,Gilles Sansig,Tamara A M Mocking,Jasper F Ooms,Adriaan P IJzerman,Laura H Heitman,Peter Sykacek,Juergen Reinhardt,André C Müller,Tabea Wiedmer,Giulio Superti-Furga