<i> RPGR <sup>ORF15</sup> </i> Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa

RPGRORF15 is essential for maintaining lysosome function and lipid metabolism homeostasis in RPE cells. This finding elucidates the previously unrecognized role of RPGRORF15 in RPE cells. This study provides new insights into the mechanisms underlying RPGR-associated retinal diseases and offers potential therapeutic approaches.

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Journal
Investigative Ophthalmology & Visual Science
Published
2025-11-25
DOI
https://doi.org/10.1167/iovs.66.14.61
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

RPGR ORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa

Mugen Liu, Liyan Dai, Yuejie Zhu, Yunqiao Han et al.
Investigative Ophthalmology & Visual Science
Lysosomal Storage Disorders Research
article

RPGR ORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa

Mugen Liu, Liyan Dai, Yuejie Zhu, Yunqiao Han, Xiang Ren, Hualei Hu, Xinhua Shu, Pan Gao, Qunwei Lu, Kui Sun, Jiong Luo, Xiang Chen, Zhaohui Tang, Shanshan Yu, Mengmeng Ren, Yukan Huang, Shusheng Wang, Pei Li, James Reilly
article en

Abstract

RPGRORF15 is essential for maintaining lysosome function and lipid metabolism homeostasis in RPE cells. This finding elucidates the previously unrecognized role of RPGRORF15 in RPE cells. This study provides new insights into the mechanisms underlying RPGR-associated retinal diseases and offers potential therapeutic approaches.

Investigative Ophthalmology & Visual ScienceVol. 66(14)
Tulane University (US), Glasgow Caledonian University (GB), Wuhan Union Hospital (CN), Union Hospital (CN), Wuhan University of Science and Technology (CN), Huazhong University of Science and Technology (CN)
Openalex Percentile: Top 54%
Lysosomal Storage Disorders Research
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<i> RPGR <sup>ORF15</sup> </i> Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa — Mugen Liu, Liyan Dai, et al. · Investigative Ophthalmology & Visual Science (2025) | TGRS Research Map | TGRS