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

Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction

复合物III亚基Uqcrh的敲除会导致生物能量障碍和心脏收缩功能障碍。

Spielmann, Nadine; Schenkl, Christina; Komlódi, Tímea; da Silva-Buttkus, Patricia; Heyne, Estelle; Rohde, Jana; Amarie, Oana V; Rathkolb, Birgit; Gnaiger, Erich; Doenst, Torsten; Fuchs, Helmut; Gailus-Durner, Valérie; de Angelis, Martin Hrabě; Szibor, Marten

Knockout mouse models as a resource for the study of rare diseases

基因敲除小鼠模型作为罕见病研究的资源

da Silva-Buttkus, Patricia; Spielmann, Nadine; Klein-Rodewald, Tanja; Schütt, Christine; Aguilar-Pimentel, Antonio; Amarie, Oana V; Becker, Lore; Calzada-Wack, Julia; Garrett, Lillian; Gerlini, Raffaele; Kraiger, Markus; Leuchtenberger, Stefanie; Östereicher, Manuela A; Rathkolb, Birgit; Sanz-Moreno, Adrián; Stöger, Claudia; Hölter, Sabine M; Seisenberger, Claudia; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabě de Angelis, Martin

Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious mice

Echo2Pheno:一款利用深度学习技术揭示清醒小鼠心脏超声表型的应用

Bukas, Christina; Galter, Isabella; da Silva-Buttkus, Patricia; Fuchs, Helmut; Maier, Holger; Gailus-Durner, Valerie; Müller, Christian L; Hrabě de Angelis, Martin; Piraud, Marie; Spielmann, Nadine