ArticleBiology open2016
The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo.
Article in Biology open, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Investigative ophthalmology & visual science · 2026Observational
- Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.Molecular genetics & genomic medicine · 2025Article
- Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.Human molecular genetics · 2024Article
- Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.International journal of molecular sciences · 2024Review
- AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model ofInternational journal of molecular sciences · 2024Article
- Clinical characteristics of high myopia in female carriers of pathogenicOphthalmic genetics · 2023Review
- Impaired glutamylation of RPGRProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.BMC ophthalmology · 2021Article
- Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).Human molecular genetics · 2021Article
- The Emerging Roles of Axonemal Glutamylation in Regulation of Cilia Architecture and Functions.Frontiers in cell and developmental biology · 2021Review
- Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRFrontiers in genetics · 2021Article
- RPGR gene therapy presents challenges in cloning the coding sequence.Expert opinion on biological therapy · 2020Review
- Molecular Strategies for RPGR Gene Therapy.Genes · 2019Review
- Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features.Translational research : the journal of laboratory and clinical medicine · 2019Article
- Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP.Frontiers in neuroscience · 2019Article
- Gene therapy for the treatment of X-linked retinitis pigmentosa.Expert opinion on orphan drugs · 2018Article
- Identification of DmTTLL5 as a Major Tubulin Glutamylase in the Drosophila Nervous System.Scientific reports · 2017Article
- Glutamylation Regulates Transport, Specializes Function, and Sculpts the Structure of Cilia.Current biology : CB · 2017Article
- BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.PLoS genetics · 2017Article
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Authors and funding
3 authors.
Funding
Abstract
Mutations inRPGR(ORF15)(retinitis pigmentosa GTPase regulator) are a major cause of inherited retinal degenerative diseases. RPGR(ORF15)(1152 residues) is a ciliary protein involved in regulating the composition and function of photoreceptor cilia. The mutational hotspot in RPGR(ORF15)is an unusual C-terminal domain encoded by exon ORF15, which is rich in polyglutamates and glycine residues (Glu-Gly domain) followed by a short stretch of basic amino acid residues (RPGR(C2)domain; residues 1072-1152). However, the properties of the ORF15-encoded domain and its involvement in the pathogenesis of the disease are unclear. Here we show that RPGR(ORF15)is glutamylated at the C-terminus, as determined by binding to GT335, which recognizes glutamylated substrates. This reactivity is lost in two mouse mutants ofRpgr, which do not express RPGR(ORF15)due to disease-causing mutations in exon ORF15. Our results indicate that RPGR(ORF15)is posttranslationally glutamylated in the Glu-Gly domain and that the GT335 antibody predominantly recognizes RPGR(ORF15)in photoreceptor cilia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.