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

DNA damage response defects induced by the formation of TDP-43 and mutant FUS cytoplasmic inclusions and their pharmacological rescue.

TDP-43 和突变型 FUS 细胞质内含物的形成引起的 DNA 损伤反应缺陷及其药物挽救。

Modafferi Stefania, Farina Stefania, Esposito Francesca, Brandi Ornella, Di Salvio Michela, Della Valle Ilaria, D'Uva Sara, Scarian Eveljn, Cicio Giada, Riccardi Adelaide, Pisati Federica, Garbelli Anna, Santini Tiziana, Pansarasa Orietta, Morlando Mariangela, D'Ambrosi Nadia, Cozzolino Mauro, Cestra Gianluca, d'Adda di Fagagna Fabrizio, Gioia Ubaldo, Francia Sofia

Cytoplasmic accumulation of a splice variant of hnRNPA2/B1 contributes to FUS-associated toxicity in a mouse model of ALS

在ALS小鼠模型中,hnRNPA2/B1剪接变体的细胞质积累会导致FUS相关毒性。

S Rossi # ,M Milani # ,I Della Valle ,S Bisegna ,V Durante ,M Addesse ,E D'Avorio ,M Di Salvio ,A Serafino ,G Cestra ,S Apolloni ,N D'Ambrosi ,M Cozzolino

A variant of the autophagic receptor NDP52 counteracts phospho-TAU accumulation and emerges as a protective factor for Alzheimer's disease

自噬受体NDP52的一种变体可对抗磷酸化TAU蛋白的积累,并成为阿尔茨海默病的一种保护因子。

Anna Mattioni ,Claudia Carsetti ,Krenare Bruqi ,Valerio Caputo ,Valentina Cianfanelli ,Maria Giulia Bacalini ,Mariella Casa ,Carlo Gabelli ,Emiliano Giardina ,Gianluca Cestra ,Flavie Strappazzon

ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.

ADSL 缺乏症是一种继发性线粒体疾病,会影响细胞器稳态和 ERK2/AKT 信号传导,呈线性基因型-表型关系。

Bordi Matteo, Testa Beatrice, Compagnucci Claudia, Colasuonno Fiorella, Cipressa Francesca, Betterini Elisabetta, Mancini Andrea, Carsetti Claudia, Salvatori Illari, Ferraina Caterina, Yang Ming, De Cegli Rossella, Del Prete Eugenio, Veroni Chiara, Rizza Salvatore, Mauri Sofia, Ziviani Elena, Macchiaiolo Marina, Vecchio Davide, Panfili Filippo Maria, Rizza Teresa, Weber Gerrit, Carrozzo Rosalba, Ferri Alberto, Campello Silvia, Ballabio Andrea, Frezza Christian, Cestra Gianluca, Tartaglia Marco, Bartuli Andrea, Cecconi Francesco

Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models

Cul-4 抑制可挽救 spastin 水平并减少遗传性痉挛性截瘫模型中的缺陷

Francesca Sardina, Claudia Carsetti, Ludovica Giorgini, Gaia Fattorini, Gianluca Cestra, Cinzia Rinaldo

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster

一例产前尺骨-乳腺综合征病例中遗传性TBX3改变:果蝇的临床评估和功能表征

Bottillo, Irene; D'Alessandro, Andrea; Ciccone, Maria Pia; Cestra, Gianluca; Di Giacomo, Gianluca; Silvestri, Evelina; Castori, Marco; Brancati, Francesco; Lenzi, Andrea; Paiardini, Alessandro; Majore, Silvia; Cenci, Giovanni; Grammatico, Paola

C9orf72 Toxic Species Affect ArfGAP-1 Function

C9orf72 有毒物种影响 ArfGAP-1 功能

Simona Rossi, Michela Di Salvio, Marilisa Balì, Assia De Simone, Savina Apolloni, Nadia D'Ambrosi, Ivan Arisi, Francesca Cipressa, Mauro Cozzolino, Gianluca Cestra

HDAC1 inhibition ameliorates TDP-43-induced cell death in vitro and in vivo

HDAC1 抑制可改善 TDP-43 诱导的体内和体外细胞死亡

Simona Sanna, Sonia Esposito, Alessandra Masala, Paola Sini, Gabriele Nieddu, Manuela Galioto, Milena Fais, Ciro Iaccarino, Gianluca Cestra, Claudia Crosio

UsnRNP trafficking is regulated by stress granules and compromised by mutant ALS proteins

UsnRNP 运输受应激颗粒调控,并受到突变 ALS 蛋白的损害

Simona Rossi, Valentina Rompietti, Ylenia Antonucci, Daniela Giovannini, Chiara Scopa, Silvia Scaricamazza, Raffaella Scardigli, Gianluca Cestra, Annalucia Serafino, Maria Teresa Carrì, Nadia D'Ambrosi, Mauro Cozzolino

Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice

FUS 和 SMN 之间的功能相互作用是野生型 hFUS 小鼠中 SMA 样剪接变化的基础

Alessia Mirra, Simona Rossi, Silvia Scaricamazza, Michela Di Salvio, Illari Salvatori, Cristiana Valle, Paola Rusmini, Angelo Poletti, Gianluca Cestra, Maria Teresa Carrì, Mauro Cozzolino