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

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome

药物稳定缺氧诱导因子 1-α 可抑制干扰素反应并促进艾卡迪-古蒂埃综合征中的糖酵解。

Batignes, Maxime; Luka, Marine; Jagtap, Surabhi; de Cevins, Camille; Nemazanyy, Ivan; Leib, Jacqueline; Fali, Tinhinane; Pierga, Alexandre; Zarhrate, Mohammed; García-Paredes, Víctor; Carbone, Francesco; Pérot, Brieuc P; Neven, Bénédicte; Bader-Meunier, Brigitte; Quartier, Pierre; Hully, Marie; Belot, Alexandre; Lepelley, Alice; Frémond, Marie-Louise; Fischer, Alain; Ménager, Mickaël M

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

线粒体疾病患者培养的皮肤成纤维细胞中干扰素信号传导与胞质线粒体DNA/RNA泄漏之间无相关性。

Marchais Manon, Pennisi Alessandra, Pierga Alexandre, Lepelley Alice, Cagnard Nicolas, Bole Christine, Nitschke Patrick, Hamici Mohamed, Rieux-Laucat Frédéric, Schiff Manuel, Munnich Arnold, Rötig Agnès

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling.

ARF1 中不同的致病突变可以揭示其在 cGAS-STING 信号传导中的双重作用

Lang Johannes, Bergner Tim, Zinngrebe Julia, Lepelley Alice, Vill Katharina, Leiz Steffen, Wlaschek Meinhard, Wagner Matias, Scharffetter-Kochanek Karin, Fischer-Posovszky Pamela, Read Clarissa, Crow Yanick J, Hirschenberger Maximilian, Sparrer Konstantin M J

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).

从患有 Aicardi-Goutières 综合征的患者中生成了两条 iPSC 系,这两条患者分别携带双等位基因 ADAR1 突变 (PC138) 或杂合 IFIH1 突变 (PC139)。

Zerad Lisa, Didry-Barca Blaise, Banal Céline, Onteniente Brigitte, Lefort Nathalie, Lepelley Alice, Seabra Luis, Hully Marie, Zweier Christiane, Bondurand Nadège, Crow Yanick J, Frémond Marie-Louise

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy

脊椎软骨发育不良:一种神秘的I型免疫骨干扰素病

Wong, Callie C Y; Wauquier, Tifenn; Uggenti, Carolina; Stok, Colin; Lepelley, Alice; Frémond, Marie-Louise; Crow, Yanick J

Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers

青少年神经精神系统性红斑狼疮:新型中枢神经炎症生物标志物的鉴定

Labouret, Mathilde; Costi, Stefania; Bondet, Vincent; Trebossen, Vincent; Le Roux, Enora; Ntorkou, Alexandra; Bartoli, Sophie; Auvin, Stéphane; Bader-Meunier, Brigitte; Baudouin, Véronique; Corseri, Olivier; Dingulu, Glory; Ducrocq, Camille; Dumaine, Cécile; Elmaleh, Monique; Fabien, Nicole; Faye, Albert; Hau, Isabelle; Hentgen, Véronique; Kwon, Théresa; Meinzer, Ulrich; Ouldali, Naim; Parmentier, Cyrielle; Pouletty, Marie; Renaldo, Florence; Savioz, Isabelle; Rozenberg, Flore; Frémond, Marie-Louise; Lepelley, Alice; Rice, Gillian I; Seabra, Luis; Benoist, Jean-François; Duffy, Darragh; Crow, Yanick J; Ellul, Pierre; Melki, Isabelle

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

JAK抑制剂治疗Aicardi-Goutières综合征:一项单中心多学科真实世界研究

Frémond, Marie-Louise; Hully, Marie; Fournier, Benjamin; Barrois, Rémi; Lévy, Romain; Aubart, Mélodie; Castelle, Martin; Chabalier, Delphine; Gins, Clarisse; Sarda, Eugénie; Al Adba, Buthaina; Couderc, Sophie; D' Almeida, Céline; Berat, Claire-Marine; Durrleman, Chloé; Espil, Caroline; Lambert, Laetitia; Méni, Cécile; Périvier, Maximilien; Pillet, Pascal; Polivka, Laura; Schiff, Manuel; Todosi, Calina; Uettwiller, Florence; Lepelley, Alice; Rice, Gillian I; Seabra, Luis; Sanquer, Sylvia; Hulin, Anne; Pressiat, Claire; Goldwirt, Lauriane; Bondet, Vincent; Duffy, Darragh; Moshous, Despina; Bader-Meunier, Brigitte; Bodemer, Christine; Robin-Renaldo, Florence; Boddaert, Nathalie; Blanche, Stéphane; Desguerre, Isabelle; Crow, Yanick J; Neven, Bénédicte

Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

线粒体核酸作为孟德尔疾病中致病性I型干扰素诱导的驱动因素

Lepelley, Alice; Wai, Timothy; Crow, Yanick J

An Essential Role for ECSIT in Mitochondrial Complex I Assembly and Mitophagy in Macrophages

ECSIT在巨噬细胞线粒体复合物I组装和线粒体自噬中的关键作用

Carneiro, Flávia R G; Lepelley, Alice; Seeley, John J; Hayden, Matthew S; Ghosh, Sankar