Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy.

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Tác giả: Jong-Hee Chae, Anna Cho, Murim Choi, Eun Young Jeon, Se Young Jin, Inkyung Jung, Hyeji Kang, Hanbyeol Kim, Hyun-Young Kim, Ryeo Gyeong Kim, Dayoung Ko, Yejin Kwak, Chul-Hwan Lee, Jeongbin Park, Soojin Park, Jae-Kyung Won

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Science advances , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 707628

Duchenne muscular dystrophy (DMD) is a devastating X-linked disorder caused by dystrophin gene mutations. Despite recent advances in understanding the disease etiology and applying emerging treatment methodologies, glucocorticoid derivatives remain the only general therapeutic option that can slow disease development. However, the precise molecular mechanism of glucocorticoid action remains unclear, and there is still need for additional remedies to complement the treatment. Here, using single-nucleus RNA sequencing and spatial transcriptome analyses of human and mouse muscles, we investigated pathogenic features in patients with DMD and palliative effects of glucocorticoids. Our approach further illuminated the importance of proliferating satellite cells and revealed increased activity of a signal transduction pathway involving EZH2 in the patient cells. Subsequent administration of EZH2 inhibitors to
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