1. Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie. 2021. Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. In International journal of molecular sciences, 22, . doi:10.3390/ijms22126410. https://pubmed.ncbi.nlm.nih.gov/34203883/
2. Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Ayuso, Carmen. . Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies. In Investigative ophthalmology & visual science, 63, 11. doi:10.1167/iovs.63.2.11. https://pubmed.ncbi.nlm.nih.gov/35119454/
3. Bedoni, Nicola, Haer-Wigman, Lonneke, Vaclavik, Veronika, Munier, Francis L, Rivolta, Carlo. . Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. In Human molecular genetics, 25, 4546-4555. doi:10.1093/hmg/ddw282. https://pubmed.ncbi.nlm.nih.gov/28173158/
4. Sergouniotis, Panagiotis I, Chakarova, Christina, Murphy, Cian, Webster, Andrew R, Plagnol, Vincent. . Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. In American journal of human genetics, 94, 760-9. doi:10.1016/j.ajhg.2014.04.003. https://pubmed.ncbi.nlm.nih.gov/24791901/
5. Kolawole, Olubayo U, Gregory-Evans, Cheryl Y, Bikoo, Riyaz, Huang, Albert Z, Gregory-Evans, Kevin. 2023. Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype. In Molecular vision, 29, 329-337. doi:. https://pubmed.ncbi.nlm.nih.gov/38264610/
6. Sun, Xun, Park, James H, Gumerson, Jessica, Roll-Mecak, Antonina, Li, Tiansen. 2016. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. In Proceedings of the National Academy of Sciences of the United States of America, 113, E2925-34. doi:10.1073/pnas.1523201113. https://pubmed.ncbi.nlm.nih.gov/27162334/
7. Kazmierczak de Camargo, João Paulo, Prezia, Giovanna Nazaré de Barros, Shiokawa, Naoye, Rosati, Roberto, Beate Winter Boldt, Angelica. 2022. New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates. In Frontiers in genetics, 13, 886461. doi:10.3389/fgene.2022.886461. https://pubmed.ncbi.nlm.nih.gov/35656327/