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Select item 79374041.

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa

Tommaso Verdina, Vivienne C. Greenstein, Stephen H. Tsang, Vittoria Murro, Dario Pasquale Mucciolo, Ilaria Passerini, Rodolfo Mastropasqua, Gian Maria Cavallini, Gianni Virgili, Fabrizio Giansanti, Andrea Sodi

Mol Vis. 2021; 27: 78–94. Published online 2021 Feb 5.

PMCID:: PMC7937404

Article PDF–2.7M

Select item 79248422.

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

Nina Kobal, Tjaša Krašovec, Maja Šuštar, Marija Volk, Borut Peterlin, Marko Hawlina, Ana Fakin

Int J Mol Sci. 2021 Feb; 22(4): 2133. Published online 2021 Feb 21. doi: 10.3390/ijms22042133

PMCID:: PMC7924842

Article PDF–5.0M

Select item 77943453.

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine Strubbe, Caroline Van Cauwenbergh, Julie De Zaeytijd, Sarah De Jaegere, Marieke De Bruyne, Toon Rosseel, Stijn Van de Sompele, Elfride De Baere, Bart P. Leroy

Sci Rep. 2021; 11: 117. Published online 2021 Jan 8. doi: 10.1038/s41598-020-80400-3

PMCID:: PMC7794345

Article PDF–2.0M

Select item 73874544.

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations

Artur V. Cideciyan, Samuel G. Jacobson, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Jason Charng, Brianna Lisi, Malgorzata Swider, Gustavo D. Aguirre, William A. Beltran

Sci Rep. 2020; 10: 12552. Published online 2020 Jul 28. doi: 10.1038/s41598-020-69456-3

PMCID:: PMC7387454

Article PDF–5.9M

Select item 70584315.

A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes

Shari R. Atilano, M. Cristina Kenney, Adriana D. Briscoe, Kimberly A. Jameson

Mol Vis. 2020; 26: 158–172. Published online 2020 Mar 5.

PMCID:: PMC7058431

Article PDF–2.4M

Select item 70562986.

Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning

Wesley D. Penn, Andrew G. McKee, Charles P. Kuntz, Hope Woods, Veronica Nash, Timothy C. Gruenhagen, Francis J. Roushar, Mahesh Chandak, Chris Hemmerich, Douglas B. Rusch, Jens Meiler, Jonathan P. Schlebach

Sci Adv. 2020 Mar; 6(10): eaay7505. Published online 2020 Mar 4. doi: 10.1126/sciadv.aay7505

PMCID:: PMC7056298

Article PDF–551K

Select item 66659587.

The Role of Rhodopsin Glycosylation in Protein Folding, Trafficking, and Light-Sensitive Retinal Degeneration

Beatrice M. Tam, Orson L. Moritz

J Neurosci. 2009 Dec 2; 29(48): 15145–15154. doi: 10.1523/JNEUROSCI.4259-09.2009

PMCID:: PMC6665958

Article PDF–1.8M

Select item 66299488.

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

Yuan Wu, Yi Guo, Junhui Yi, Hongbo Xu, Lamei Yuan, Zhijian Yang, Hao Deng

Biosci Rep. 2019 Jul 31; 39(7): BSR20182198. Prepublished online 2019 Jun 25. Published online 2019 Jul 12. doi: 10.1042/BSR20182198

PMCID:: PMC6629948

Article PDF–1.5M

Select item 64875039.

Contribution of Cotranslational Folding Defects to Membrane Protein Homeostasis

Francis J. Roushar, Timothy C. Gruenhagen, Wesley D. Penn, Bian Li, Jens Meiler, Beata Jastrzebska, Jonathan P. Schlebach

J Am Chem Soc. Author manuscript; available in PMC 2020 Jan 9.

Published in final edited form as: J Am Chem Soc. 2019 Jan 9; 141(1): 204–215. Published online 2018 Dec 26. doi: 10.1021/jacs.8b08243

PMCID:: PMC6487503

Article PDF–1.1M

Select item 551656710.

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme

Beau R. Froebel, Alexandria J. Trujillo, Jack M. Sullivan

Invest Ophthalmol Vis Sci. 2017 Jul; 58(9): 3576–3591. doi: 10.1167/iovs.16-20877

PMCID:: PMC5516567

Article PDF–2.2M

Select item 509588511.

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

Charlotte Reiff, Marta Owczarek-Lipska, Georg Spital, Carsten Röger, Hebke Hinz, Christoph Jüschke, Holger Thiele, Janine Altmüller, Peter Nürnberg, Romain Da Costa, John Neidhardt

Sci Rep. 2016; 6: 36208. Published online 2016 Nov 4. doi: 10.1038/srep36208

PMCID:: PMC5095885

Article PDF–1.8M

Select item 504231712.

Chapter 64: Targeting the proteostasis network in rhodopsin retinitis pigmentosa

David A. Parfitt, Michael E. Cheetham

Adv Exp Med Biol. Author manuscript; available in PMC 2016 Sep 29.

Published in final edited form as: Adv Exp Med Biol. 2016; 854: 479–484. doi: 10.1007/978-3-319-17121-0_64

PMCID:: PMC5042317

Article PDF–315K

Select item 490092713.

Wild-type opsin does not aggregate with a misfolded opsin mutant

Megan Gragg, Tae Gyun Kim, Scott Howell, Paul S.-H. Park

Biochim Biophys Acta. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Biochim Biophys Acta. 2016 Aug; 1858(8): 1850–1859. Published online 2016 Apr 23. doi: 10.1016/j.bbamem.2016.04.013

PMCID:: PMC4900927

Article PDF–1002K

Select item 480850314.

Nonsense Mutations in the Rhodopsin Gene that Give Rise to Mild Phenotypes Trigger mRNA Degradation in Human Cells by Nonsense-Mediated Decay

Ramon Roman-Sanchez, Theodore G. Wensel, John H. Wilson

Exp Eye Res. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Exp Eye Res. 2016 Apr; 145: 444–449. Published online 2015 Sep 26. doi: 10.1016/j.exer.2015.09.013

PMCID:: PMC4808503

Article PDF–1.0M

Select item 478809415.

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

Avigail Beryozkin, Gal Levy, Anat Blumenfeld, Segev Meyer, Prasanthi Namburi, Yair Morad, Libe Gradstein, Anand Swaroop, Eyal Banin, Dror Sharon

Invest Ophthalmol Vis Sci. 2016 Mar; 57(3): 940–947. Published online 2016 Mar 8. doi: 10.1167/iovs.15-18702

PMCID:: PMC4788094

Article PDF–909K

Select item 474999816.

Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution

Miguel A. Fernández-Sampedro, Brandon M. Invergo, Eva Ramon, Jaume Bertranpetit, Pere Garriga

Sci Rep. 2016; 6: 21570. Published online 2016 Feb 11. doi: 10.1038/srep21570

PMCID:: PMC4749998

Article PDF–1.3M

Select item 472630617.

Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa

Xinping Yu, Wei Shi, Lulu Cheng, Yanfang Wang, Ding Chen, Xuting Hu, Jinling Xu, Limin Xu, Yaming Wu, Jia Qu, Feng Gu

Sci Rep. 2016; 6: 19759. Published online 2016 Jan 22. doi: 10.1038/srep19759

PMCID:: PMC4726306

Article PDF–647K

Select item 448270918.

Molecular Dynamics of Channelrhodopsin at the Early Stages of Channel Opening

Mizuki Takemoto, Hideaki E. Kato, Michio Koyama, Jumpei Ito, Motoshi Kamiya, Shigehiko Hayashi, Andrés D. Maturana, Karl Deisseroth, Ryuichiro Ishitani, Osamu Nureki

PLoS One. 2015; 10(6): e0131094. Published online 2015 Jun 26. doi: 10.1371/journal.pone.0131094