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

Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency

超越终点:恶二唑类TRIDs可恢复无义突变驱动的原发性免疫缺陷中的LRBA蛋白表达

Fiduccia, Ignazio; Vitale, Emanuele; Varrica, Riccardo; Ricci, Davide; Marino, Sefora; Zito, Antonino; Pace, Andrea; Colige, Alain; Moutschen, Michel; Borutzki, Yasmin; Bileck, Andrea; Meier-Menches, Samuel M; Lentini, Laura; Pibiri, Ivana

A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again.

针对原发性免疫缺陷疾病的精准医疗方法:阿塔卢伦再次击中无义突变

Lentini Laura, Perriera Riccardo, Corrao Federica, Melfi Raffaella, Tutone Marco, Carollo Pietro S, Fiduccia Ignazio, Pace Andrea, Ricci Davide, Genovese Francesco, Colige Alain, Delvenne Philippe, Grimbacher Bodo, Moutschen Michel, Pibiri Ivana

Advancing Therapeutic Strategies for Nonsense-Related Diseases: From Small Molecules to Nucleic Acid-Based Innovations

推进无义突变相关疾病的治疗策略:从小分子到核酸创新

Ricci, Davide; Cruciata, Ilenia; Fiduccia, Ignazio; Vitale, Emanuele; Corrao, Federica; Branchini, Alessio; Carollo, Pietro Salvatore; Pibiri, Ivana; Lentini, Laura

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview

罕见和超罕见人类疾病中的无义突变:概述

Vitale, Emanuele; Ricci, Davide; Corrao, Federica; Fiduccia, Ignazio; Cruciata, Ilenia; Carollo, Pietro Salvatore; Branchini, Alessio; Lentini, Laura; Pibiri, Ivana

Promoting readthrough of nonsense mutations in CF mouse model: Biodistribution and efficacy of NV848 in rescuing CFTR protein expression

促进囊性纤维化小鼠模型中无义突变的通读:NV848在挽救CFTR蛋白表达中的生物分布和功效

Fiduccia, Ignazio; Corrao, Federica; Zizzo, Maria Grazia; Perriera, Riccardo; Genovese, Francesco; Vitale, Emanuele; Ricci, Davide; Melfi, Raffaella; Tutone, Marco; Pace, Andrea; Lentini, Laura; Pibiri, Ivana

Readthrough Approach Using NV Translational Readthrough-Inducing Drugs (TRIDs): A Study of the Possible Off-Target Effects on Natural Termination Codons (NTCs) on TP53 and Housekeeping Gene Expression

利用NV翻译通读诱导药物(TRIDs)进行通读策略研究:TP53和管家基因表达中天然终止密码子(NTCs)可能存在的脱靶效应

Perriera, Riccardo; Vitale, Emanuele; Pibiri, Ivana; Carollo, Pietro Salvatore; Ricci, Davide; Corrao, Federica; Fiduccia, Ignazio; Melfi, Raffaella; Zizzo, Maria Grazia; Tutone, Marco; Pace, Andrea; Lentini, Laura

Investigating the Inhibition of FTSJ1, a Tryptophan tRNA-Specific 2'-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR

研究NV TRIDs对色氨酸tRNA特异性2'-O-甲基转移酶FTSJ1的抑制作用,作为无义突变CFTR中通读的机制

Carollo, Pietro Salvatore; Tutone, Marco; Culletta, Giulia; Fiduccia, Ignazio; Corrao, Federica; Pibiri, Ivana; Di Leonardo, Aldo; Zizzo, Maria Grazia; Melfi, Raffaella; Pace, Andrea; Almerico, Anna Maria; Lentini, Laura