Gene Therapy Improves Functional Measures in XLRP
Patients with XLRP treated with AGTC-501 gene therapy experienced improvements in visual function including retinal sensitivity . . .
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Jan 31
A Systematic Literature Review of Disease Progression Reported in RPGR-associated X-Linked Retinitis Pigmentosa
A systematic literature review was conducted to assess available data on disease progression in RPGR-associated XLRP.
Jun 8, 2023
Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel
Formulate recommendations for designing XLRP gene therapy clinical studies to provide the best chance of successful treatment development.
Jan 24, 2022
RPGR and X-linked Retinitis Pigmentosa
Among the most common genetic causes of IRDs are mutations in the RPGR gene located on the X-chromosome.
Jul 13, 2021
CRISPR/Cas9 Gene Editing
X-linked RP caused by RPGR mutations, an attractive target for gene therapy because of its clinical severity and large number of patients.
Nov 13, 2020
RPGR Gene Therapy Shows Statistically Significant & Continued Vision Improvement
RPGR Gene Therapy Shows Statistically Significant & Continued Vision Improvement
Sep 4, 2020
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa
Investigate X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice
Nov 27, 2019
Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
Zhimeng Zhang, Hehua Dai, Lei Wang, Tianchang Tao, Jing Xu, Xiaowei Sun, Liping Yang, Genlin Li | BMC Ophthalmology | Vol. 19, Article #...
Jun 30, 2018
ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure
The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.
May 15, 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .
Oct 14, 2016
Prenylated retinal ciliopathy protein RPGR interacts with PDE6B,
Regulates ciliary localization of Joubert syndrome-associated protein INPP5E Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, and...
Oct 14, 2016
Prenylated retinal ciliopathy protein RPGR interacts with PDE6B and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
RPGR as a critical to cilia and suggest that trafficking of INPP5E to cilia depends upon the interaction of RPGR with PDE6B.
Apr 3, 2003
X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
RPGR mutations were assessed in families with XLRP and a strategy for analyzing highly repetitive mutational hot spots in exon ORF15.
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