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Select item 99388851.

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

Peggy Reuter, Magdalena Walter, Susanne Kohl, Nicole Weisschuh

Sci Rep. 2023; 13: 2896. Published online 2023 Feb 18. doi: 10.1038/s41598-023-29452-9

PMCID:: PMC9938885

Abstract Article PDF–2.4M

Select item 90314572.

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families

Sairah Yousaf, Nabeela Tariq, Zureesha Sajid, Shakeel A. Sheikh, Tasleem Kausar, Yar M. Waryah, Rehan S. Shaikh, Ali M. Waryah, Saumil Sethna, Saima Riazuddin, Zubair M. Ahmed

Genes (Basel) 2022 Apr; 13(4): 617. Published online 2022 Mar 29. doi: 10.3390/genes13040617

PMCID:: PMC9031457

Abstract Article PDF–3.6M

Select item 70615213.

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

Joachim Täger, Susanne Kohl, David G. Birch, Dianna K.H. Wheaton, Bernd Wissinger, Peggy Reuter

Exp Eye Res. Author manuscript; available in PMC 2020 Mar 9.

Published in final edited form as: Exp Eye Res. 2018 Jun; 171: 48–53. Published online 2018 Feb 27. doi: 10.1016/j.exer.2018.02.027

PMCID:: PMC7061521

Abstract Article PDF–555K

Select item 63549414.

Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability

Michalis Georgiou, Katie M. Litts, Angelos Kalitzeos, Christopher S. Langlo, Thomas Kane, Navjit Singh, Melissa Kassilian, Nashila Hirji, Neruban Kumaran, Alfredo Dubra, Joseph Carroll, Michel Michaelides

Invest Ophthalmol Vis Sci. 2019 Jan; 60(1): 383–396. doi: 10.1167/iovs.18-25880

PMCID:: PMC6354941

Abstract Article PDF–1.6M

Select item 46665785.

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Rehan S Shaikh, Peggy Reuter, Robert A Sisk, Tasleem Kausar, Mohsin Shahzad, Muhammad I Maqsood, Ateeq Yousif, Muhammad Ali, Saima Riazuddin, Bernd Wissinger, Zubair M Ahmed

Eur J Hum Genet. 2015 Apr; 23(4): 473–480. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.136

PMCID:: PMC4666578

Abstract Article PDF–2.2M

Select item 40363726.

Alternative Splicing Governs Cone Cyclic Nucleotide-gated (CNG) Channel Sensitivity to Regulation by Phosphoinositides

Gucan Dai, Tshering Sherpa, Michael D. Varnum

J Biol Chem. 2014 May 9; 289(19): 13680–13690. Published online 2014 Mar 27. doi: 10.1074/jbc.M114.562272

PMCID:: PMC4036372

Abstract Article PDF–1.0M

Select item 37256307.

Feedback regulation of cone cyclic nucleotide channels by phosphoinositides. Focus on “CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions”

Donna L. Cioffi, Thomas C. Rich

Am J Physiol Cell Physiol. 2013 Jul 15; 305(2): C131–C132. doi: 10.1152/ajpcell.00136.2013

PMCID:: PMC3725630

Article

Select item 37256268.

CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions

Gucan Dai, Michael D. Varnum

Am J Physiol Cell Physiol. 2013 Jul 15; 305(2): C147–C159. Published online 2013 Apr 3. doi: 10.1152/ajpcell.00037.2013

PMCID:: PMC3725626

Abstract Article

Select item 24646139.

CNGA3 mutations in two United Arab Emirates families with achromatopsia

Yachna Ahuja, Susanne Kohl, Elias I. Traboulsi

Mol Vis. 2008; 14: 1293–1297. Published online 2008 Jul 10.

PMCID:: PMC2464613

Abstract Article PDF–5.5M

Select item 1035402410.

Conformational trajectory of allosteric gating of the human cone photoreceptor cyclic nucleotide-gated channel

Zhengshan Hu, Xiangdong Zheng, Jian Yang

Nat Commun. 2023; 14: 4284. Published online 2023 Jul 18. doi: 10.1038/s41467-023-39971-8

PMCID:: PMC10354024

Abstract Article PDF–3.9M

Select item 1029855411.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia

Rebeca A. S. Amaral, Fabiana L. Motta, Olivia A. Zin, Mariana M. da Palma, Gabriela D. Rodrigues, Juliana M. F. Sallum

Genes (Basel) 2023 Jun; 14(6): 1296. Published online 2023 Jun 20. doi: 10.3390/genes14061296

PMCID:: PMC10298554

Abstract Article PDF–2.1M

Select item 892901812.

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies

Manca Tekavčič Pompe, Nika Vrabič, Marija Volk, Andrej Meglič, Martina Jarc-Vidmar, Borut Peterlin, Marko Hawlina, Ana Fakin

Curr Issues Mol Biol. 2021 Sep; 43(2): 941–957. Published online 2021 Aug 16. doi: 10.3390/cimb43020067

PMCID:: PMC8929018

Abstract Article PDF–3.8M

Select item 888876113.

Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel

Xiangdong Zheng, Huan Li, Zhengshan Hu, Deyuan Su, Jian Yang

Commun Biol. 2022; 5: 190. Published online 2022 Mar 1. doi: 10.1038/s42003-022-03120-6

PMCID:: PMC8888761

Abstract Article PDF–4.8M

Select item 817457014.

Retinal Morphology of Patients With Achromatopsia During Early Childhood: Implications for Gene Therapy

Paul Yang, Keith V. Michaels, Robert J. Courtney, Yuquan Wen, Daniel A. Greninger, Leah Reznick, Daniel J. Karr, Lorri B. Wilson, Richard G. Weleber, Mark E. Pennesi

JAMA Ophthalmol. Author manuscript; available in PMC 2021 Jun 3.

Published in final edited form as: JAMA Ophthalmol. 2014 Jul; 132(7): 823–831. doi: 10.1001/jamaophthalmol.2014.685

PMCID:: PMC8174570

Abstract Article PDF–747K

Select item 536158115.

Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep

Elisha Gootwine, Mazen Abu-Siam, Alexey Obolensky, Alex Rosov, Hen Honig, Tali Nitzan, Andrey Shirak, Raaya Ezra-Elia, Esther Yamin, Eyal Banin, Edward Averbukh, William W. Hauswirth, Ron Ofri, Eyal Seroussi

Invest Ophthalmol Vis Sci. 2017 Mar; 58(3): 1577–1584. doi: 10.1167/iovs.16-20986

PMCID:: PMC5361581

Abstract Article PDF–829K

Select item 286224316.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

Maleeha Azam, Rob W.J. Collin, Syed Tahir Abbas Shah, Aftab Ali Shah, Muhammad Imran Khan, Alamdar Hussain, Ahmed Sadeque, Tim M. Strom, Alberta A.H.J. Thiadens, Susanne Roosing, Anneke I. den Hollander, Frans P.M. Cremers, Raheel Qamar

Mol Vis. 2010; 16: 774–781. Published online 2010 Apr 29.

PMCID:: PMC2862243

Abstract Article PDF–5.1M

Select item 173566617.

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

S Johnson, M Michaelides, I Aligianis, J Ainsworth, J Mollon, E Maher, A Moore, D Hunt

J Med Genet. 2004 Feb; 41(2): e20. doi: 10.1136/jmg.2003.011437

PMCID:: PMC1735666

Summary PDF–318K

Select item 122605918.

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle, Roberto Giorda, Tim Marx, Simone Mayer, Sabine Tippmann, Martina Broghammer, Bernhard Jurklies, Thomas Rosenberg, Samuel G. Jacobson, E. Cumhur Sener, Sinan Tatlipinar, Carel B. Hoyng, Claudio Castellan, Pierre Bitoun, Sten Andreasson, Günter Rudolph, Ulrich Kellner, Birgit Lorenz, Gerhard Wolff, Christine Verellen-Dumoulin, Marianne Schwartz, Frans P. M. Cremers, Eckart Apfelstedt-Sylla, Eberhart Zrenner, Roberto Salati, Lindsay T. Sharpe, Susanne Kohl

Am J Hum Genet. 2001 Oct; 69(4): 722–737. Published online 2001 Aug 30. doi: 10.1086/323613