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

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 histone macroH2A1.1 causes kidney abnormalities secondary to a change in nutrient metabolization.

组蛋白macroH2A1.1的缺失会导致营养代谢改变,进而引起肾脏异常。

Winkler René, Comas-Armangué Gemma, Corujo David, Sanz-Moreno Adrián, Calzada-Wack Julia, Bhattacharya Shubhra Ashish, Rathkolb Birgit, Dragano Nathalia Romanelli Vicente, Qiao Colina X, Chiodi Valentina, Filipescu Dan, Park Dylan H, Domenici Maria Rosaria, Kirigin Callaú Valentina, Gerlini Raffaele, Rozman Jan, Klein-Rodewald Tanja, Aguilar-Pimentel Antonio, Becker Lore, Seisenberger Claudia, Marschall Susan, Fuchs Helmut, Gailus-Durner Valérie, Bernstein Emily, Vinciguerra Manlio, Oberdoerffer Philipp, Hrabě de Angelis Martin, Teperino Raffaele, Buschbeck Marcus

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

Abcb5-deficient mice show a subtle, pleiotropic phenotype indicating a role for this transporter in intermediary metabolism.

Abcb5 缺陷小鼠表现出微妙的多效性表型,表明该转运蛋白在中间代谢中发挥作用。

Gillet Jean-Pierre, Gerard Louise, Vieira Wilfred, Fourrez Marie, Gaudray Florence, Rathkolb Birgit, Rozman Jan, Klein-Rodewald Tanja, Becker Lore, Aguilar-Pimentel Antonio, Horsch Marion, Spielmann Nadine, Prehn Cornelia, Bihin Benoît, Beckers Johannes, Fuchs Helmut, Gailus-Durner Valérie, Hrabe de Angelis Martin, Southon Eileen, Tessarollo Lino, Xia Di, Gottesman Michael M

A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice

一种在患者中富集的MEIS1编码变异会导致小鼠出现类似不宁腿综合征的表型。

Leu, Chia-Luen; Lam, Daniel D; Salminen, Aaro V; Wefers, Benedikt; Becker, Lore; Garrett, Lillian; Rozman, Jan; Wurst, Wolfgang; Hrabě de Angelis, Martin; Hölter, Sabine M; Winkelmann, Juliane; Williams, Rhîannan H

Yap/Taz activity is associated with increased expression of phosphoglycerate dehydrogenase that supports myoblast proliferation

Yap/Taz活性与磷酸甘油酸脱氢酶表达增加有关,而磷酸甘油酸脱氢酶支持成肌细胞增殖。

Meinhold, Marius; Verbrugge, Sander; Shi, Andi; Schönfelder, Martin; Becker, Lore; Jaspers, Richard T; Zammit, Peter S; Wackerhage, Henning

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

GPR101 loss promotes insulin resistance and diet-induced obesity risk.

GPR101 缺失会促进胰岛素抵抗和饮食诱导的肥胖风险

Garrett Lillian, Irmler Martin, Baljuls Angela, Rathkolb Birgit, Dragano Nathalia, Gerlini Raffaele, Sanz-Moreno Adrián, Aguilar-Pimentel Antonio, Becker Lore, Kraiger Markus, Reithmeir Rosa, Beckers Johannes, Calzada-Wack Julia, Wurst Wolfgang, Fuchs Helmut, Gailus-Durner Valerie, Zimmermann Tina, Hölter Sabine M, de Angelis Martin Hrabě

Seizures, ataxia and parvalbumin-expressing interneurons respond to selenium supply in Selenop-deficient mice

在硒蛋白缺乏的小鼠中,癫痫发作、共济失调和表达小白蛋白的中间神经元对硒的供应有反应。

Schweizer, Ulrich; Wirth, Eva K; Klopstock, Thomas; Hölter, Sabine M; Becker, Lore; Moskovitz, Jackob; Grune, Tilman; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Köhrle, Josef; Schomburg, Lutz

Does a Hypertrophying Muscle Fibre Reprogramme its Metabolism Similar to a Cancer Cell?

肥大的肌肉纤维是否会像癌细胞一样重编程其新陈代谢?

Wackerhage, Henning; Vechetti, Ivan J; Baumert, Philipp; Gehlert, Sebastian; Becker, Lore; Jaspers, Richard T; de Angelis, Martin Hrabě