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

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome

治疗性p63亚型转换可挽救AEC综合征的表皮缺陷

Di Girolamo, Daniela; Urciuoli, Gloria; Sol, Stefano; Ferniani, Marco; Antonini, Dario; Marchese, Emanuela; Palumbo, Sara; De Stefano, Maria Angela; Baltissen, Marijke P A; Ros, Marian A; Dixon, Jill; Hadj-Rabia, Smail; Missero, Caterina

Ragopathies and the rising influence of RagGTPases on human diseases

Rag病及RagGTP酶对人类疾病日益增长的影响

Sambri, Irene; Ferniani, Marco; Ballabio, Andrea

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

RagD自身激活突变会损害肾小管病和心肌病综合征中的MiT/TFE活性

Irene Sambri # ,Marco Ferniani # ,Giulia Campostrini ,Marialuisa Testa ,Viviana Meraviglia ,Mariana E G de Araujo ,Ladislav Dokládal ,Claudia Vilardo ,Jlenia Monfregola ,Nicolina Zampelli ,Francesca Del Vecchio Blanco ,Annalaura Torella ,Carolina Ruosi ,Simona Fecarotta ,Giancarlo Parenti ,Leopoldo Staiano ,Milena Bellin ,Lukas A Huber ,Claudio De Virgilio ,Francesco Trepiccione ,Vincenzo Nigro ,Andrea Ballabio

Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree

疾病相关的 p63 DBD 突变通过不同的机制和不同程度损害 DNA 结合

Christian Osterburg #, Marco Ferniani #, Dario Antonini, Ann-Sophie Frombach, Ludovica D'Auria, Susanne Osterburg, Rebecca Lotz, Frank Löhr, Sebastian Kehrloesser, Huiqing Zhou, Caterina Missero, Volker Dötsch

Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome

p63 转录因子的蛋白质聚集是 AEC 综合征中严重皮肤脆弱的原因

Claudia Russo, Christian Osterburg, Anna Sirico, Dario Antonini, Raffaele Ambrosio, Julia Maren Würz, Jörg Rinnenthal, Marco Ferniani, Sebastian Kehrloesser, Birgit Schäfer, Peter Güntert, Satrajit Sinha, Volker Dötsch, Caterina Missero