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

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation

神经氨酸酶 1 继发性缺乏症通过脑蛋白过度唾液酸化作用导致神经系统粘多糖贮积症的中枢神经系统病变。

Xu, TianMeng; Heon-Roberts, Rachel; Moore, Travis; Dubot, Patricia; Pan, Xuefang; Guo, Tianlin; Cairo, Christopher W; Holley, Rebecca J; Bigger, Brian; Durcan, Thomas M; Levade, Thierry; Ausseil, Jerôme; Amilhon, Bénédicte; Gorelik, Alexei; Nagar, Bhushan; Khan, Shaukat; Tomatsu, Shunji; Sturiale, Luisa; Palmigiano, Angelo; Röckle, Iris; Thiesler, Hauke; Hildebrandt, Herbert; Garozzo, Domenico; Pshezhetsky, Alexey V

Liver gene expression and its rewiring in hepatic steatosis are controlled by PI3Kα-dependent hepatocyte signaling.

肝脏基因表达及其在肝脂肪变性中的重编程受 PI3Kα 依赖性肝细胞信号传导控制

Régnier Marion, Polizzi Arnaud, Fougeray Tiffany, Fougerat Anne, Perrier Prunelle, Anderson Karen, Lippi Yannick, Smati Sarra, Lukowicz Céline, Lasserre Frédéric, Fouche Edwin, Huillet Marine, Rives Clémence, Tramunt Blandine, Naylies Claire, Garcia Géraldine, Rousseau-Bacquié Elodie, Bertrand-Michel Justine, Canlet Cécile, Chevolleau-Mege Sylvie, Debrauwer Laurent, Heymes Christophe, Burcelin Rémy, Levade Thierry, Gourdy Pierre, Wahli Walter, Blum Yuna, Gamet-Payrastre Laurence, Ellero-Simatos Sandrine, Guillermet-Guibert Julie, Hawkins Phillip, Stephens Len, Postic Catherine, Montagner Alexandra, Loiseau Nicolas, Guillou Hervé

Natural history of adult-onset metachromatic leukodystrophy

成人发病型异染性脑白质营养不良的自然史

Mandia, Daniele; Dufour, Juliette; Fenu, Silvia; Salsano, Ettore; Benzoni, Chiara; Sellal, François; Pariente, Jeremie; Cengiz, Nilgün; Pettazzoni, Magali; Levade, Thierry; Lamari, Foudil; Caillaud, Catherine; La Piana, Roberta; Brassat, David; Durand-Dubief, Françoise; Besson, Gérard; Odent, Sylvie; Devos, David; Barbay, Mélanie; Makrygianni, Maria; Kumperscak, Hojka Gregoric; Froissart, Roseline; Nadjar, Yann

Thermoneutral housing worsens MASLD and reveals defective brown adipose tissue response to β3-adrenergic stimulation.

热中性住房会加剧 MASLD,并揭示棕色脂肪组织对 β3-肾上腺素能刺激的反应缺陷

Martin Céline Marie Pauline, Polizzi Arnaud, Alquier-Bacquié Valérie, Huillet Marine, Rives Clémence, Dauriat Charlène J G, Bruse Justine, Melin Valentine, Naylies Claire, Lippi Yannick, Lasserre Frédéric, Wan JingHong, Flores-Flores Rémy, Bertrand-Michel Justine, Blas-Y-Estrada Florence, Rousseau-Bacquié Elodie, Levade Thierry, Rémignon Hervé, Langin Dominique, Mouisel Etienne, Lotersztajn Sophie, Chassaing Benoit, Gamet-Payrastre Laurence, Guillou Hervé, Ellero-Simatos Sandrine, Fougerat Anne, Loiseau Nicolas

Human genetic defects of sphingolipid synthesis

人类鞘脂合成的遗传缺陷

Dubot, Patricia; Sabourdy, Frédérique; Levade, Thierry

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay

酸性神经酰胺酶缺乏症:SMA-PME自然史、生物标志物和细胞内酶活性检测的新见解

Cuinat, Silvestre; Rollier, Paul; Grand, Katheryn; Sanchez-Lara, Pedro A; Allen-Sharpley, Michelle; Levade, Thierry; Vanier, Marie T; Lion Francois, Laurence; Chemaly, Nicole; de Lattre, Capucine; Moreau, Camille; Paquot, Adrien; Beghyn, Terence; de Masfrand, Servane; Bézieau, Stéphane; Mercier, Sandra; Boespflug-Tanguy, Odile

Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes

检测具有减弱表型的B型酸性鞘磷脂酶缺乏症的先进策略

Villeneuve, Thomas; Jamme, Thibaut; Schwob, Robin; Levade, Thierry; Prévot, Grégoire

Correction: Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes

更正:检测具有减弱表型的B型酸性鞘磷脂酶缺乏症的先进策略

Villeneuve, Thomas; Jamme, Thibaut; Schwob, Robin; Levade, Thierry; Prévot, Grégoire

Early vs Late High-frequency Oscillatory Ventilation in Paediatric Acute Respiratory Distress Syndrome – A Tertiary Care Centre Experience

儿童急性呼吸窘迫综合征早期与晚期高频振荡通气——一家三级医疗中心的经验

Yu, Fabian P S; Islam, Diana; Sikora, Jakub; Dworski, Shaalee; Gurka, Jiří; López-Vásquez, Lucía; Liu, Mingyao; Kuebler, Wolfgang M; Levade, Thierry; Zhang, Haibo; Medin, Jeffrey A; Bipin, Chalattil; Sanketh, Porwar; Jolly, Chandran; Gnanayagam, Ebor Jacob James; Ebenezer, Kala

Acid sphingomyelinase deficiency in France: a retrospective survival study

法国酸性鞘磷脂酶缺乏症:一项回顾性生存研究

Mauhin, Wladimir; Guffon, Nathalie; Vanier, Marie T; Froissart, Roseline; Cano, Aline; Douillard, Claire; Lavigne, Christian; Héron, Bénédicte; Belmatoug, Nadia; Uzunhan, Yurdagül; Lacombe, Didier; Levade, Thierry; Duvivier, Aymeric; Pulikottil-Jacob, Ruth; Laredo, Fernando; Pichard, Samia; Lidove, Olivier