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

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III

溶酶体糖原分解增强与糖原贮积症III型患者的肝脏肿瘤发生有关。

期刊:Jhep Reports
影响因子:7.5
doi:10.1016/j.jhepr.2025.101702
Montalvo-Romeral, Valle; Jauze, Louisa; Perrot, Gwendoline; Amaouche, Mouna; Gardin, Antoine; Aguilar González, Araceli; Leblond, Alicia; Zitoun-Ardon, Carine; Evrard, Félicie; Cosette, Jérémie; Tatout, Christophe; Bordier, Fanny; Bertil-Froidevaux, Emilie; Georger, Christophe; van Wittenberghe, Laetitia; Paradis, Valérie; Gay, Simon; Dujardin, Fanny; Maillot, François; Gautier-Stein, Amandine; Mithieux, Gilles; Malfatti, Edoardo; Mussini, Charlotte; Labrune, Philippe; Mayeuf-Louchart, Alicia; Ronzitti, Giuseppe; Rajas, Fabienne
肿瘤
肿瘤免疫
发表日期：2026
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Impaired Glucose Metabolism, Primary Cilium Defects, and Kidney Cystogenesis in Glycogen Storage Disease Type Ia.

糖原贮积症 Ia 型中的葡萄糖代谢受损、原发性纤毛缺陷和肾囊肿形成

期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.0000000000000452
Monteillet Laure, Perrot Gwendoline, Evrard Félicie, Miliano Alexane, Silva Marine, Leblond Alicia, Nguyen Clément, Terzi Fabiola, Mithieux Gilles, Rajas Fabienne
代谢
发表日期：2024
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Normalization of hepatic ChREBP activity does not protect against liver disease progression in a mouse model for Glycogen Storage Disease type Ia

在Ia型糖原贮积症小鼠模型中，肝脏ChREBP活性的正常化并不能阻止肝脏疾病的进展。

期刊:Cancer & Metabolism
影响因子:5.3
doi:10.1186/s40170-023-00305-3
Rutten, Martijn G S; Lei, Yu; Hoogerland, Joanne H; Bloks, Vincent W; Yang, Hong; Bos, Trijnie; Krishnamurthy, Kishore A; Bleeker, Aycha; Koster, Mirjam H; Thomas, Rachel E; Wolters, Justina C; van den Bos, Hilda; Mithieux, Gilles; Rajas, Fabienne; Mardinoglu, Adil; Spierings, Diana C J; de Bruin, Alain; van de Sluis, Bart; Oosterveer, Maaike H
ChREBP
EBP
发表日期：2023
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Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

肾素-血管紧张素系统阻断对I型糖原贮积症肾病的细胞和代谢影响

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddab297
Monteillet Laure, Labrune Philippe, Hochuli Michel, Do Cao Jeremy, Tortereau Antonin, Miliano Alexane Cannella, Ardon-Zitoun Carine, Duchampt Adeline, Silva Marine, Verzieux Vincent, Mithieux Gilles, Rajas Fabienne
代谢
细胞生物学
血管生成
发表日期：2022
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The absence of hepatic glucose-6 phosphatase/ChREBP couple is incompatible with survival in mice

小鼠肝脏中葡萄糖-6-磷酸酶/ChREBP偶联物的缺失与小鼠的存活不相容。

期刊:Molecular Metabolism
影响因子:6.6
doi:10.1016/j.molmet.2020.101108
Rajas, Fabienne; Dentin, Renaud; Cannella Miliano, Alexane; Silva, Marine; Raffin, Margaux; Levavasseur, Françoise; Gautier-Stein, Amandine; Postic, Catherine; Mithieux, Gilles
ChREBP
EBP
发表日期：2021
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Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia

糖原贮积症 Ia 型中，极低密度脂蛋白分解代谢受损将低血糖与高甘油三酯血症联系起来

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12380
Hoogerland, Joanne A; Peeks, Fabian; Hijmans, Brenda S; Wolters, Justina C; Kooijman, Sander; Bos, Trijnie; Bleeker, Aycha; van Dijk, Theo H; Wolters, Henk; Gerding, Albert; van Eunen, Karen; Havinga, Rick; Pronk, Amanda C M; Rensen, Patrick C N; Mithieux, Gilles; Rajas, Fabienne; Kuipers, Folkert; Reijngoud, Dirk-Jan; Derks, Terry G J; Oosterveer, Maaike H
代谢
发表日期：2021
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Hepatic Carbohydrate Response Element Binding Protein Activation Limits Nonalcoholic Fatty Liver Disease Development in a Mouse Model for Glycogen Storage Disease Type 1a

肝脏碳水化合物反应元件结合蛋白的激活限制了糖原贮积症1a型小鼠模型中非酒精性脂肪肝疾病的发展

期刊:Hepatology
影响因子:15.8
doi:10.1002/hep.31198
Lei, Yu; Hoogerland, Joanne A; Bloks, Vincent W; Bos, Trijnie; Bleeker, Aycha; Wolters, Henk; Wolters, Justina C; Hijmans, Brenda S; van Dijk, Theo H; Thomas, Rachel; van Weeghel, Michel; Mithieux, Gilles; Houtkooper, Riekelt H; de Bruin, Alain; Rajas, Fabienne; Kuipers, Folkert; Oosterveer, Maaike H
代谢
脂肪肝
Mouse
发表日期：2020
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Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels

1a型糖原贮积症与维生素A代谢紊乱和血清视黄醇水平升高有关。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddz283
Saeed, Ali; Hoogerland, Joanne A; Wessel, Hanna; Heegsma, Janette; Derks, Terry G J; van der Veer, Eveline; Mithieux, Gilles; Rajas, Fabienne; Oosterveer, Maaike H; Faber, Klaas Nico
代谢
发表日期：2020
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Intracellular lipids are an independent cause of liver injury and chronic kidney disease in non alcoholic fatty liver disease-like context

在非酒精性脂肪肝样疾病背景下，细胞内脂质是肝损伤和慢性肾脏疾病的独立病因。

期刊:Molecular Metabolism
影响因子:6.6
doi:10.1016/j.molmet.2018.07.006
Monteillet, Laure; Gjorgjieva, Monika; Silva, Marine; Verzieux, Vincent; Imikirene, Linda; Duchampt, Adeline; Guillou, Hervé; Mithieux, Gilles; Rajas, Fabienne
脂肪肝
肝损伤
毒理研究
代谢
细胞生物学
发表日期：2018
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Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

IA型糖原贮积症患者的临床和生化异质性：CUSUM在代谢控制中的附加价值

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-017-0039-1
Peeks, Fabian; Steunenberg, Thomas A H; de Boer, Foekje; Rubio-Gozalbo, M Estela; Williams, Monique; Burghard, Rob; Rajas, Fabienne; Oosterveer, Maaike H; Weinstein, David A; Derks, Terry G J
代谢
发表日期：2017
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