Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy

Thiel-Behnke corneal dystrophy (TBCD) is an epithelial-stromal TGFBI dystrophy caused by mutations in the TGFBI (transforming growth factor beta induced) gene, though the underlying mechanisms and pathogenesis of TBCD are still obscure. The study identifies a novel mutation in the TGFBI gene (p.Gly6...

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Detalles Bibliográficos
Autores principales: Wang, Liyuan, Zhao, Chuchu, Zheng, Tao, Zhang, Yi, Liu, Hanruo, Wang, Xi, Tang, Xianling, Zhao, Baowen, Liu, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037417/
https://www.ncbi.nlm.nih.gov/pubmed/34403298
http://dx.doi.org/10.1080/15548627.2021.1955469

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