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RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy
Journal of Cachexia, Sarcopenia and Muscle ( IF 8.9 ) Pub Date : 2021-10-22 , DOI: 10.1002/jcsm.12813
Virginie Mariot 1 , Romain Joubert 1, 2 , Laura Le Gall 1 , Eva Sidlauskaite 1 , Christophe Hourde 3 , William Duddy 4 , Thomas Voit 1 , Maximilien Bencze 5, 6 , Julie Dumonceaux 1, 4
Affiliation  

Facioscapulohumeral dystrophy (FSHD) is caused by mutations leading to the aberrant expression of the DUX4 transcription factor in muscles. DUX4 was proposed to induce cell death, but the involvement of different death pathways is still discussed. A possible pro-apoptotic role of DUX4 was proposed, but as FSHD muscles are characterized by necrosis and inflammatory infiltrates, non-apoptotic pathways may be also involved.

中文翻译:

RIPK3 介导的细胞死亡与 DUX4 介导的面肩肱营养不良毒性有关

面肩肱型营养不良 (FSHD) 是由导致肌肉中 DUX4 转录因子异常表达的突变引起的。DUX4 被提出来诱导细胞死亡,但仍在讨论不同死亡途径的参与。提出了 DUX4 可能的促凋亡作用,但由于 FSHD 肌肉以坏死和炎症浸润为特征,因此也可能涉及非凋亡途径。
更新日期:2021-12-31
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