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Ophthalmic Genetics Volume 34, 2013 - Issue 4
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Review

Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

Virginia M. UtzCole Eye Institute, Cleveland Clinic Cleveland, OHUSA
,
Craig D. BeightCole Eye Institute, Cleveland Clinic Cleveland, OHUSA
,
Meghan J. MarinoCole Eye Institute, Cleveland Clinic Cleveland, OHUSA
,
Stephanie A. HagstromCole Eye Institute, Cleveland Clinic Cleveland, OHUSA;Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University Cleveland, OHUSA
&
Elias I. TraboulsiCole Eye Institute, Cleveland Clinic Cleveland, OHUSA;Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University Cleveland, OHUSACorrespondence[email protected]
Pages 183-188 | Received 09 Aug 2012, Accepted 13 Dec 2012, Published online: 23 Jan 2013

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Kristian Lisbjerg, Mette Bertelsen, Julie Lyng Forman, Karen Grønskov, Josephine Prener Holtan & Line Kessel. (2023) Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up. Ophthalmic Genetics 44:2, pages 139-146.
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Danial Roshandel, Jennifer A. Thompson, Jason Charng, Dan Zhang, Enid Chelva, Sukanya Arunachalam, Mary S. Attia, Tina M. Lamey, Terri L. McLaren, John N. De Roach, David A. Mackey, Steve D. Wilton, Sue Fletcher, Samuel McLenachan & Fred K. Chen. (2021) Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genetics 42:1, pages 1-14.
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Articles from other publishers (18)

Hamzah Aweidah, Zhouhuan Xi, José-Alain Sahel & Leah C. Byrne. (2023) PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation. Vision Research 213, pages 108315.
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Parveen Sen, Natarajan Srikrupa, Puja Maitra, Sundaramurthy Srilekha, Periyasamy Porkodi, Harshavardhini Gnanasekaran, Muna Bhende, Vikas Khetan, Sinnakaruppan Mathavan, Pramod Bhende, Dhanashree Ratra, Rajiv Raman, Chetan Rao & Sarangapani Sripriya. (2023) Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India. Indian Journal of Ophthalmology 71:6, pages 2512-2520.
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Zhouhuan Xi, Abhishek Vats, José-Alain Sahel, Yuanyuan Chen & Leah C. Byrne. (2022) Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa. Nature Communications 13:1.
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Maria Georgiou, Robert Atkinson, Sina Mozaffari‐Jovin & Majlinda Lako. (2022) Progressive accumulation of cytoplasmic aggregates in PRPF31 retinal pigment epithelium cells interferes with cell survival. Clinical and Translational Discovery 2:4.
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Amélie Rodrigues, Amélie Slembrouck-Brec, Céline Nanteau, Angélique Terray, Yelyzaveta Tymoshenko, Yvrick Zagar, Sacha Reichman, Zhouhuan Xi, José-Alain Sahel, Stéphane Fouquet, Gael Orieux, Emeline F. Nandrot, Leah C. Byrne, Isabelle Audo, Jérôme E. Roger & Olivier Goureau. (2022) Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue. npj Regenerative Medicine 7:1.
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Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan‐Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al‐Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Lührmann, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari‐Jovin & Majlinda Lako. (2022) Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells. Clinical and Translational Medicine 12:3.
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Myriam Sainz-Ramos, Idoia Gallego, Ilia Villate-Beitia, Jon Zarate, Iván Maldonado, Gustavo Puras & Jose Luis Pedraz. (2021) How Far Are Non-Viral Vectors to Come of Age and Reach Clinical Translation in Gene Therapy?. International Journal of Molecular Sciences 22:14, pages 7545.
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Dongzhi Yang, Qihui Yao, Ya Li, Yan Xu, Jun Wang, Huiling Zhao, Fuyong Liu, Zhaojing Zhang, Yang Liu, Xiaoshuai Bie, Yuanli Wang, Liyan Xu, Yingying Luan, Shangdong Yang, Ge Yang & Ying He. (2020) A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non‐syndromic retinitis pigmentosa by reducing the level of mRNA expression . Ophthalmic and Physiological Optics 40:3, pages 289-299.
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Gabrielle Wheway, Andrew Douglas, Diana Baralle & Elsa Guillot. (2020) Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Experimental Eye Research 192, pages 107950.
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Kevin T. Booth, Hela Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees, Carla Nishimura, Hossein Najmabadi & Richard J Smith. (2018) Exonic mutations and exon skipping: Lessons learned from DFNA5 . Human Mutation 39:3, pages 433-440.
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Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran JayasunderaSarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran Jayasundera. 2018. Retinal Dystrophy Gene Atlas. Retinal Dystrophy Gene Atlas 195 196 .
Di Huang, Sue Fletcher, Steve Wilton, Norman Palmer, Samuel McLenachan, David Mackey & Fred Chen. (2017) Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid. Vision 1:3, pages 22.
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Rebecca D. MurrayMichael L. MerchantEricka Hardin, Barbara Clark, Syed J. KhundmiriEleanor D. Lederer. (2016) Identification of an RNA-binding protein that is phosphorylated by PTH and potentially mediates PTH-induced destabilization of Npt2a mRNA. American Journal of Physiology-Cell Physiology 310:3, pages C205-C215.
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A.M. Case, I.A. Sawyer, M. Dundr & M.L. Hastings. 2016. Encyclopedia of Cell Biology. Encyclopedia of Cell Biology 503 511 .
Jonathan Bizarro, Maxime Dodré, Alexandra Huttin, Bruno Charpentier, Florence Schlotter, Christiane Branlant, Céline Verheggen, Séverine Massenet & Edouard Bertrand. (2015) NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins. Nucleic Acids Research 43:18, pages 8973-8989.
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A. Gregory Matera & Zefeng Wang. (2014) A day in the life of the spliceosome. Nature Reviews Molecular Cell Biology 15:2, pages 108-121.
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Anna M. Rose, Amna Z. Shah, Giulia Venturini, Carlo Rivolta, Geoffrey E. Rose & Shomi S. Bhattacharya. (2014) Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans -Acting Epistasis” . Annals of Human Genetics 78:1, pages 62-71.
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David N. Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith & Hildegard Kehrer-Sawatzki. (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Human Genetics 132:10, pages 1077-1130.
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