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

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches

对一个家族三人组中 POLR3A 变异的研究提示了突变特异性致病机制:来自整合组学方法的启示

Rey, Federica; Casamassa, Alessia; Di Cristofano, Samuele; Esposito, Letizia; Soriano, Amata Amy; Messa, Letizia; Berardo, Clarissa; Hazrati, Mahsa; Ferrone, Ilaria; Bonnet, Maxime; Bruschi, Fabio; Vaia, Ylenia; Marano, Massimo; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Zuccotti, Gianvincenzo; Vescovi, Angelo Luigi; Raimondo, Domenico; Rosati, Jessica; Carelli, Stephana; Cereda, Cristina

Selective Silencing of TDP-43 P. G376D Mutation Reverses Key Amyotrophic Lateral Sclerosis-Related Cellular Deficits

选择性沉默TDP-43 P.G376D突变可逆转肌萎缩侧索硬化症相关的关键细胞缺陷

Romano, Roberta; Ruotolo, Giorgia; Perrone, Francesco; Tomaselli, Silvia; Mazzoni, Martina; Spataro, Rossella; Conforti, Francesca Luisa; Rosati, Jessica; Bucci, Cecilia

The evolution of eukaryotic linear motifs governing the function of androgen receptor from fish to Homo sapiens.

从鱼类到人类,控制雄激素受体功能的真核生物线性基序的演化

Falconieri Antonella, Boarolo Giulia, Boschelle Chiara, Spagnolli Giovanni, Marchioretti Caterina, Zuccaro Emanuela, Palazzolo Isabella, Tosatto Laura, Hegazy Adham Kamaleldeen Omara, Rosati Jessica, Fischbeck Kenneth, Basso Manuela, Liedtke Hans Christoph, Gomez-Mestre Ivan, Dalla Valle Luisa, Biasini Emiliano, Faccioli Pietro, Grapputo Alessandro, Pennuto Maria

Mitochondrial and energy metabolism dysfunctions are hallmarks of TDP-43(G376D) fibroblasts from members of an Amyotrophic Lateral Sclerosis family.

肌萎缩侧索硬化症家族成员的 TDP-43(G376D) 成纤维细胞的标志是线粒体和能量代谢功能障碍

Perciballi Elisa, Bovio Federica, Ferro Sara, Forcella Matilde, Rosati Jessica, Carletti Rose Mary, D'Anzi Angela, Gelati Maurizio, La Bella Vincenzo, Innocenti Metello, Spataro Rossella, Pecoraro Martina, Lombardi Ivan, Vulcano Edvige, Ruotolo Giorgia, Mercurio Sara, Sabatelli Mario, Lattante Serena, Malm Tarja, Ohtonen Sohvi, Vescovi Angelo Luigi, Fusi Paola, Ferrari Daniela

Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis.

Kv3 通道激动剂可改善肌萎缩侧索硬化症小鼠模型的表型

Marabita Manuela, Marchioretti Caterina, Aravamudhan Aishwarya, Zito Simona, Falconieri Antonella, Zuccaro Emanuela, Andreotti Roberta, Gambarotto Lisa, Metti Samuele, Tonellato Marika, Adami Valentina, Park Kyung Ho, Gunthorpe Martin J, Large Charles H, Marasco Agostino, Vianello Sara, Rosati Jessica, Belluzzi Elisa, Pozzuoli Assunta, Biz Carlo, Ruggieri Pietro, Basso Manuela, Poletti Angelo, Alvaro Giuseppe, Sorarù Gianni, Bonaldo Paolo, Rossetto Ornella, Pilati Nadia, Pennuto Maria

Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview

更正:利用hiPSCs加深对15q11-13染色体CNV的理解:概述

Giovenale, Angela Maria Giada; Ruotolo, Giorgia; Soriano, Amata Amy; Turco, Elisa Maria; Rotundo, Giovannina; Casamassa, Alessia; D'Anzi, Angela; Vescovi, Angelo Luigi; Rosati, Jessica

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review

史密斯-马吉尼斯综合征患者的代谢特征:一项观察性研究及文献综述

Cipolla, Clelia; Sessa, Linda; Rotunno, Giulia; Sodero, Giorgio; Proli, Francesco; Veredice, Chiara; Giorgio, Valentina; Leoni, Chiara; Rosati, Jessica; Limongelli, Domenico; Kuczynska, Eliza; Sforza, Elisabetta; Trevisan, Valentina; Rigante, Donato; Zampino, Giuseppe; Onesimo, Roberta

Skeletal Muscle Pathogenesis in Polyglutamine Diseases

多聚谷氨酰胺疾病中的骨骼肌发病机制

Marchioretti, Caterina; Zuccaro, Emanuela; Pandey, Udai Bhan; Rosati, Jessica; Basso, Manuela; Pennuto, Maria

Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview

利用人诱导多能干细胞加深对15q11-13染色体拷贝数变异的理解:概述

Giovenale, Angela Maria Giada; Ruotolo, Giorgia; Soriano, Amata Amy; Turco, Elisa Maria; Rotundo, Giovannina; Casamassa, Alessia; D'Anzi, Angela; Vescovi, Angelo Luigi; Rosati, Jessica

Known Drugs Identified by Structure-Based Virtual Screening Are Able to Bind Sigma-1 Receptor and Increase Growth of Huntington Disease Patient-Derived Cells.

通过基于结构的虚拟筛选鉴定出的已知药物能够与 Sigma-1 受体结合,并促进亨廷顿病患者来源细胞的生长

Battista Theo, Pascarella Gianmarco, Staid David Sasah, Colotti Gianni, Rosati Jessica, Fiorillo Annarita, Casamassa Alessia, Vescovi Angelo Luigi, Giabbai Barbara, Semrau Marta Stefania, Fanelli Sergio, Storici Paola, Squitieri Ferdinando, Morea Veronica, Ilari Andrea