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

Rethinking ratio-based normalization towards model-based approaches in heart weight analysis

重新思考基于比率的标准化方法,转向基于模型的心脏重量分析方法

Oestereicher, Manuela A; da Silva-Buttkus, Patricia; Gailus-Durner, Valérie; Marschall, Susan; Fuchs, Helmut; Hrabě de Angelis, Martin; Schneltzer, Elida; Spielmann, Nadine

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

氨基己二酸半醛合酶是戊二酸尿症1型底物减少疗法的潜在靶点

Saad, Celine; Jung-Klawitter, Sabine; Dimitrov, Bianca; Aguilar-Pimentel, Juan Antonio; Becker, Lore; da Silva-Buttkus, Patricia; Dragano, Nathalia R V; Garrett, Lillian; Hölter, Sabine M; Rathkolb, Birgit; Sanz-Moreno, Adrián; Spielmann, Nadine; Fuchs, Helmut; Gailus-Durner, Valerie; Schaaf, Christian P; la Marca, Giancarlo; Damiano, Roberta; Lefeber, Dirk J; Engelke, Udo; de Angelis, Martin Hrabe; Houten, Sander M; Kölker, Stefan

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.

小鼠中 Ten1 的缺失会导致端粒缩短,并模拟人类先天性角化不良症

Sanz-Moreno Adrián, Becker Lore, Xie Kan, da Silva-Buttkus Patricia, Dragano Nathalia R V, Aguilar-Pimentel Antonio, Amarie Oana V, Calzada-Wack Julia, Kraiger Markus, Leuchtenberger Stefanie, Seisenberger Claudia, Marschall Susan, Rathkolb Birgit, Scifo Enzo, Liu Ting, Thanabalasingam Anoja, Sanchez-Vazquez Raul, Martinez Paula, Blasco Maria A, Savage Sharon A, Fuchs Helmut, Ehninger Dan, Gailus-Durner Valérie, de Angelis Martin Hrabê

Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice

利用AAV-miRNA进行AASS治疗性抑制可挽救小鼠戊二酸尿症I型严重表型。

Segur-Bailach, Eulàlia; Mateu-Bosch, Anna; Bofill-De Ros, Xavier; Parés, Marta; da Silva Buttkus, Patricia; Rathkolb, Birgit; Gailus-Durner, Valérie; Hrabě de Angelis, Martin; Moeini, Pedram; Gonzalez-Aseguinolaza, Gloria; Tort, Frederic; Ribes, Antonia; van Karnebeek, Clara D M; García-Villoria, Judit; Fillat, Cristina

Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia

神经病变相关的Tecpr2突变敲入小鼠揭示了神经元和小胶质细胞中内溶酶体功能丧失的表型。

Bhattacharya, Debjani; da Silva-Buttkus, Patricia; Nalbach, Karsten; Cheng, Lizhen; Garrett, Lillian; Irmler, Martin; Kislinger, Georg; Werner, Georg; Rodde, Ramona; Lengger, Christoph; Beckers, Johannes; Zimprich, Annemarie; Hölter, Sabine M; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wefers, Benedikt; Wurst, Wolfgang; Brill, Monika S; Schifferer, Martina; Lichtenthaler, Stefan F; Behrends, Christian

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

ALDH7A1 缺乏引起的吡哆醇依赖性癫痫的新疗法:小鼠上游酶抑制原理的首次验证

van Karnebeek, Clara D M; Gailus-Durner, Valérie; Engelke, Udo F; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabě de Angelis, Martin; Wevers, Ron A; Coughlin, Curtis R; Lefeber, Dirk J

Towards a kingdom of reproductive life - the core sperm proteome

迈向生殖生命王国——精子核心蛋白质组

Pini, Taylor; Nixon, Brett; Karr, Timothy L; Teperino, Raffaele; Sanz-Moreno, Adrián; da Silva-Buttkus, Patricia; Tüttelmann, Frank; Kliesch, Sabine; Gailus-Durner, Valérie; Fuchs, Helmut; Marschall, Susan; Hrabě de Angelis, Martin; Skerrett-Byrne, David A

X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomes

X染色体连锁缺失Crossfirre、Firre和Dxz4基因在体内揭示了多种表型以及对常染色体的组合效应

Tim P Hasenbein # ,Sarah Hoelzl # ,Zachary D Smith ,Chiara Gerhardinger ,Marion O C Gonner ,Antonio Aguilar-Pimentel ,Oana V Amarie ,Lore Becker ,Julia Calzada-Wack ,Nathalia R V Dragano ,Patricia da Silva-Buttkus ,Lillian Garrett ,Sabine M Hölter ,Markus Kraiger ,Manuela A Östereicher ,Birgit Rathkolb ,Adrián Sanz-Moreno ,Nadine Spielmann ,Wolfgang Wurst ,Valerie Gailus-Durner ,Helmut Fuchs ,Martin Hrabě de Angelis ,Alexander Meissner ,Stefan Engelhardt ,John L Rinn ,Daniel Andergassen

Examining the liver-pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration

检查肝胰腺串扰揭示了钼辅因子在 β 细胞再生中的作用

Christos Karampelias, Bianca Băloiu, Birgit Rathkolb, Patricia da Silva-Buttkus, Etty Bachar-Wikström, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Lianhe Chu, Martin Hrabě de Angelis, Olov Andersson

LncRNA U90926 is dispensable for the development of obesity-associated phenotypes in vivo

LncRNA U90926 对于体内肥胖相关表型的发展并非必不可少

Bristy Sabikunnahar, Sydney Caldwell, Stella Varnum, Tyler Hogan, Karolyn G Lahue, Birgit Rathkolb, Raffaele Gerlini, Nathalia R V Dragano, Antonio Aguilar-Pimentel, Martin Irmler, Adrián Sanz-Moreno, Patricia da Silva-Buttkus; German Mouse Clinic Consortium; Johannes Beckers, Eckhard Wolf, Valerie