Article
TFEB-mediated autophagy dysregulation links with PRPF31 deficiency-induced photoreceptor death via PLK4 downregulation.
Experimental eye research - 1 Jul 2026
Zhang Lujia, Qu Yuntao, Yao Shun, Han Luying, Liu Guangming, Li Ya, Wu Chenyu, Liu Mengyu, Hao Bingtao, Wang Yongchen, Lei Bo, Wang Zhongfeng
Abstract excerpt
Mutations in the pre-mRNA processing factor 31 gene (PRPF31) are a common cause of autosomal dominant retinitis pigmentosa (adRP), an inherited retinopathy characterized by progressive photoreceptor degeneration and vision loss. In a large Chinese adRP pedigree, we identified a PRPF31 c.544_618del mutation that causes a drastic reduction in protein expression via haploinsufficiency. We investigated its...
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