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

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

Folliculin depletion results in liver cell damage and cholangiocarcinoma through MiT/TFE activation

滤泡蛋白耗竭可通过激活MiT/TFE导致肝细胞损伤和胆管癌。

Custode, Bruno Maria; Annunziata, Francesco; Dos Santos Matos, Felipe; Schiano, Valentina; Maffia, Veronica; Lillo, Milena; Colonna, Rita; De Cegli, Rossella; Ballabio, Andrea; Pastore, Nunzia

TFEB Orchestrates Stress Recovery and Paves the Way for Senescence Induction in Human Dermal Fibroblasts.

TFEB 协调压力恢复并为人类真皮成纤维细胞衰老诱导铺平道路

Guerrero-Navarro Lena, Monfort-Lanzas Pablo, Krichbaumer Vinzenz, De Araújo Mariana E G, Monfregola Jlenia, Huber Lukas A, Ballabio Andrea, Jansen-Dürr Pidder, Cavinato Maria

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

ATG conjugation-dependent/independent mechanisms underlie lysosomal stress-induced TFEB regulation.

溶酶体应激诱导的 TFEB 调控机制依赖于 ATG 结合或不依赖于 ATG 结合

Akayama Shiori, Shima Takayuki, Kaminishi Tatsuya, Cui Mengying, Monfregola Jlenia, Nishino Kohei, Ballabio Andrea, Kosako Hidetaka, Yoshimori Tamotsu, Nakamura Shuhei

Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling.

溶酶体蛋白 CLN3 的缺失会触发 c-Abl 依赖的 YAP1 促凋亡信号传导。

Domingues Neuza, Calcagni' Alessia, Freire Sofia, Pires Joana, Casqueiro Ricardo, Salazar Ivan L, Herz Niculin Joachim, Huynh Tuong, Wieciorek Katarzyna, Outeiro Tiago Fleming, Girão Henrique, Milosevic Ira, Ballabio Andrea, Raimundo Nuno

Investigation of dynamic regulation of TFEB nuclear shuttling by microfluidics and quantitative modelling.

利用微流控技术和定量建模研究TFEB核穿梭的动态调控

Ruolo Iacopo, Napolitano Sara, Postiglione Lorena, Napolitano Gennaro, Ballabio Andrea, di Bernardo Diego

Folliculin Deletion in the Mouse Kidney Results in Cystogenesis of the Loops of Henle via Aberrant TFEB Activation.

小鼠肾脏中滤泡蛋白的缺失导致亨利氏袢囊肿形成,这是由于 TFEB 异常激活所致。

Shalaby Ola, Ohmori Tomoko, Miike Koichiro, Tanigawa Shunsuke, Wilan Krisna Luh Ade, Calcagnì Alessia, Ballabio Andrea, Kubota Yoshiaki, Schmidt Laura S, Linehan W Marston, Ito Takaaki, Baba Masaya, Nishinakamura Ryuichi

UV induces common cutaneous amyloid-like melanosomal protein aggregates

紫外线诱导常见的皮肤淀粉样蛋白样黑素体蛋白聚集体

Theodosakis, Nicholas; Howland, Porter B; Hejna, Miroslav; Ostrowski, Stephen M; Cohen-Neamie, Talya A; Joseph, Remi A; Ji, Helen; Greuel, Allison E; Boozer, Judith R; Demian, Mariam Y; Asim, Alin; Nguyen, Khanh; Mu, Andrew; Seifert, Philip; Kaminiow, Konrad; Zhang, Yifan; Fassini, Aline; Germana, Sharon; Shaw, Kristin C; Lin, William M; Hoang, Mai P; Wu, Xunwei; Chandra, Sreeganga S; Hacohen, Nir; Ballabio, Andrea; Bakshi, Rachit; Udeshi, Namrata D; Ganesan, Anand K; Horn, Thomas; Murphy, George F; Carr, Steven A; Hyman, Bradley T; Song, Jun S; Fisher, David E

Author Correction: Oligodendroglial fatty acid metabolism as a central nervous system energy reserve

作者更正:少突胶质细胞脂肪酸代谢作为中枢神经系统能量储备

Asadollahi, Ebrahim; Trevisiol, Andrea; Saab, Aiman S; Looser, Zoe J; Dibaj, Payam; Ebrahimi, Reyhane; Kusch, Kathrin; Ruhwedel, Torben; Möbius, Wiebke; Jahn, Olaf; Lee, Jun Yup; Don, Anthony S; Khalil, Michelle-Amirah; Hiller, Karsten; Baes, Myriam; Weber, Bruno; Abel, E Dale; Ballabio, Andrea; Popko, Brian; Kassmann, Celia M; Ehrenreich, Hannelore; Hirrlinger, Johannes; Nave, Klaus-Armin