Progressive accumulation of cytoplasmic aggregates in PRPF31 retinal pigment epithelium cells interferes with cell survival
Progressive accumulation of cytoplasmic aggregates in PRPF31 retinal pigment epithelium cells interferes with cell survival
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PRPF31视网膜色素上皮细胞中细胞质聚集物的逐渐积累干扰细胞存活
DOI：
10.1002/ctd2.89
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Georgiou M
中科院分区：
文献类型：
--
作者：
Georgiou M
视网膜色素变性（RP）是一种常见的遗传性退行性疾病，往往导致失明。约10%的常染色体显性遗传RP病例与PRPF 31基因突变相关，该基因参与前体mRNA剪接。这篇评论总结了我们最近发表的“自噬激活逆转PRPF 31患者诱导的多能干细胞衍生的视网膜色素上皮细胞中进行性和有害的蛋白质聚集”的关键发现，这些细胞质聚集物随着时间的推移逐渐积累并损害细胞功能和存活。了解PRPF 31-RP的病理机制提供了宝贵的信息，可用于了解其他PRPF-RP，并有助于设计有效和适当的治疗策略，用于治疗PRPF 31突变的RP患者。
Retinitis Pigmentosa (RP) is a common form of inherited degenerative disease that often leads to blindness. About 10% autosomal dominant RP cases have been associated with mutations in PRPF31 gene, which is involved in pre‐mRNA splicing. This commentary summarises the key findings of our recent publication ‘Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells’ in the context of large cytoplasmic aggregates which accumulate progressive with time and impair cell function and survival. Understanding the pathomechanism of PRPF31‐RP provides invaluable information that can be used to understand other PRPF‐RPs, and help to design effective and appropriate therapeutic strategies for the treatment of RP patients with PRPF31 mutations.
影响因子：
4
作者：
Surgucheva, I;Ninkina, N;Surguchov, A
通讯作者：
Surguchov, A