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

Cathepsin B inhibition blocks amyloidogenesis in the mouse models of neurological lysosomal diseases MPS IIIC and sialidosis.

组织蛋白酶 B 抑制剂可阻断神经溶酶体疾病 MPS IIIC 和唾液酸沉积症小鼠模型中的淀粉样蛋白生成

Viana Gustavo M, Pan Xuefang, Fan Shuxian, Xu TianMeng, Wyatt Alexandra, Pshezhetsky Alexey V

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

小鼠全血细胞减少症伴黏多糖贮积症IIIB型:病例报告及血液学相关性研究

Beauregard-Lacroix, Éliane; Dubot, Patricia; Pshezhetsky, Alexey V; Campeau, Philippe M

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

单等位基因 p.R37H 脱氢多萜醇二磷酸合成酶变体导致进行性癫痫性脑病的新型小鼠模型出现蛋白质糖基化缺陷、异常脂质谱和中间神经元稀少。

Da Silva, Afitz; Tene Tadoum, Samuel Boris; Muffels, Irena J J; Budhraja, Rohit; Sturiale, Luisa; Messina, Angela; Giladi, Moshe; Taherzadeh, Mahsa; Fazeli, Mehrnaz; Bonneil, Éric; Khan, Shaukat; Te Vruchte, Danielle; Yamanaka, Yojiro; Di Cristo, Graziella; Hamdan, Fadi F; Platt, Frances M; Tomatsu, Shunji; Haitin, Yoni; Kozicz, Tamas; Thibault, Pierre; Garozzo, Domenico; Pandey, Akilesh; Morava, Eva; Rossignol, Elsa; Pshezhetsky, Alexey V

Anti-amyloid treatment is broadly effective in neuronopathic mucopolysaccharidoses and synergizes with gene therapy in MPS-IIIA

抗淀粉样蛋白治疗对神经病性粘多糖病具有广泛疗效,并与 MPS-IIIA 的基因治疗产生协同作用

Marianna Giaccio, Antonio Monaco, Laura Galiano, Andrea Parente, Luigi Borzacchiello, Riccardo Rubino, Frank-Gerrit Klärner, Dennis Killa, Claudia Perna, Pasquale Piccolo, Marcello Marotta, Xuefang Pan, Marie Khijniak, Ibrar Siddique, Thomas Schrader, Alexey V Pshezhetsky, Nicolina Cristina Sorrenti

Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC

异源 HSPC 移植可挽救溶酶体跨膜酶缺乏症 (MPS IIIC) 小鼠模型中的神经炎症并改善外周表现

Xuefang Pan, Antoine Caillon, Shuxian Fan, Shaukat Khan, Shunji Tomatsu, Alexey V Pshezhetsky

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins

神经氨酸酶 1 的继发性缺乏通过脑糖蛋白的过度唾液酸化,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; Bigger, Brian; Durcan, Thomas M; Levade, Thierry; Ausseil, Jerôme; Amilhon, Bénédicte; Gorelik, Alexei; Nagar, Bhushan; Sturiale, Luisa; Palmigiano, Angelo; Röckle, Iris; Thiesler, Hauke; Hildebrandt, Herbert; Garozzo, Domenico; Pshezhetsky, Alexey V

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption

唾液酸沉积症小鼠的严重肾功能障碍揭示了神经氨酸酶1在重吸收过程中的重要作用

Kho, Ikhui; Demina, Ekaterina P; Pan, Xuefang; Londono, Irene; Cairo, Christopher W; Sturiale, Luisa; Palmigiano, Angelo; Messina, Angela; Garozzo, Domenico; Ung, Roth-Visal; Mac-Way, Fabrice; Bonneil, Éric; Thibault, Pierre; Lemaire, Mathieu; Morales, Carlos R; Pshezhetsky, Alexey V

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

酸性神经酰胺酶缺乏症小鼠模型中出现脊髓性肌萎缩症样表型

Murtaza S Nagree # ,Jitka Rybova # ,Annie Kleynerman ,Carissa J Ahrenhoerster ,Jennifer T Saville ,TianMeng Xu ,Maxwell Bachochin ,William M McKillop ,Michael W Lawlor ,Alexey V Pshezhetsky ,Olena Isaeva ,Matthew D Budde ,Maria Fuller ,Jeffrey A Medin

Severe central nervous system demyelination in Sanfilippo disease

Sanfilippo 病导致的严重中枢神经系统脱髓鞘

Mahsa Taherzadeh, Erjun Zhang, Irene Londono, Benjamin De Leener, Sophie Wang, Jonathan D Cooper, Timothy E Kennedy, Carlos R Morales, Zesheng Chen, Gregory A Lodygensky, Alexey V Pshezhetsky