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

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

Effects of Heparan sulfate acetyl-CoA: Alpha-glucosaminide N-acetyltransferase (HGSNAT) inactivation on the structure and function of epithelial and immune cells of the testis and epididymis and sperm parameters in adult mice.

硫酸乙酰肝素乙酰辅酶A:α-氨基葡萄糖苷N-乙酰转移酶(HGSNAT)失活对成年小鼠睾丸和附睾上皮细胞和免疫细胞的结构和功能以及精子参数的影响

Carvelli Lorena, Hermo Louis, O'Flaherty Cristian, Oko Richard, Pshezhetsky Alexey V, Morales Carlos R

Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission

IIIC型粘多糖贮积症的早期缺陷会破坏兴奋性突触传递。

Pará, Camila; Bose, Poulomee; Bruno, Luigi; Freemantle, Erika; Taherzadeh, Mahsa; Pan, Xuefang; Han, Chanshuai; McPherson, Peter S; Lacaille, Jean-Claude; Bonneil, Éric; Thibault, Pierre; O'Leary, Claire; Bigger, Brian; Morales, Carlos Ramon; Di Cristo, Graziella; Pshezhetsky, Alexey V

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

溶酶体贮积症的神经病理生理学:突触功能障碍是疾病进展的起点

Pará, Camila; Bose, Poulomee; Pshezhetsky, Alexey V

Keeping it trim: roles of neuraminidases in CNS function

保持精简:神经氨酸酶在中枢神经系统功能中的作用

Pshezhetsky, Alexey V; Ashmarina, Mila

Atypical juvenile presentation of G(M2) gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene

GM2A基因c.259G>T和c.164C>T突变复合杂合子患者出现非典型青少年G(M2)神经节苷脂沉积症AB型

Martins, Carla; Brunel-Guitton, Catherine; Lortie, Anne; Gauvin, France; Morales, Carlos R; Mitchell, Grant A; Pshezhetsky, Alexey V