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

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

颅骨发育不良:新型错义变异及ADAMTSL2细胞内转运机制研究进展

Piccolo, Pasquale; Sabatino, Valeria; Mithbaokar, Pratibha; Polishchuck, Elena; Law, Simon K; Magraner-Pardo, Lorena; Pons, Tirso; Polishchuck, Roman; Brunetti-Pierri, Nicola

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

FBN1 突变导致皮肤组织发育不良患者的皮肤成纤维细胞含有溶酶体内含物,氯沙坦可改善其微纤维沉积缺陷

Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A Bacino, Nicola Brunetti-Pierri

SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction

SR-A 和 SREC-I 结合肽可增强 HDAd 介导的肝脏转导。

Piccolo, P; Annunziata, P; Mithbaokar, P; Brunetti-Pierri, N

SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors

SR-A 和 SREC-I 是辅助依赖性腺病毒载体的库普弗受体和内皮细胞受体

Pasquale Piccolo, Francesco Vetrini, Pratibha Mithbaokar, Nathan C Grove, Terry Bertin, Donna Palmer, Philip Ng, Nicola Brunetti-Pierri

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency

主自噬调节因子 TFEB 的基因转移可清除毒性蛋白质并纠正 α-1-抗胰蛋白酶缺乏症中的肝病

Nunzia Pastore, Keith Blomenkamp, Fabio Annunziata, Pasquale Piccolo, Pratibha Mithbaokar, Rosa Maria Sepe, Francesco Vetrini, Donna Palmer, Philip Ng, Elena Polishchuk, Simona Iacobacci, Roman Polishchuk, Jeffrey Teckman, Andrea Ballabio, Nicola Brunetti-Pierri

Discovery of drug mode of action and drug repositioning from transcriptional responses

从转录反应中发现药物作用机制和药物重定位

Iorio, Francesco; Bosotti, Roberta; Scacheri, Emanuela; Belcastro, Vincenzo; Mithbaokar, Pratibha; Ferriero, Rosa; Murino, Loredana; Tagliaferri, Roberto; Brunetti-Pierri, Nicola; Isacchi, Antonella; di Bernardo, Diego

Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector

利用慢病毒-NAGLU载体治疗IIIB型粘多糖贮积症小鼠模型

Di Natale, Paola; Di Domenico, Carmela; Gargiulo, Nadia; Castaldo, Sigismondo; Gonzalez Y Reyero, Enrico; Mithbaokar, Pratibha; De Felice, Mario; Follenzi, Antonia; Naldini, Luigi; Villani, Guglielmo R D

Rhes is involved in striatal function

Rhes参与纹状体功能

Spano, Daniela; Branchi, Igor; Rosica, Annamaria; Pirro, Maria Teresa; Riccio, Antonio; Mithbaokar, Pratibha; Affuso, Andrea; Arra, Claudio; Campolongo, Patrizia; Terracciano, Daniela; Macchia, Vincenzo; Bernal, Juan; Alleva, Enrico; Di Lauro, Roberto

Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland

促甲状腺激素受体信号通路在甲状腺发育和分化中的作用

Postiglione, M P; Parlato, R; Rodriguez-Mallon, A; Rosica, A; Mithbaokar, P; Maresca, M; Marians, R C; Davies, T F; Zannini, M S; De Felice, M; Di Lauro, R