Publications:

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Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.

International Journal Of Molecular Sciences

Nguyen, Xuan-Thanh-An XT; Moekotte, Lude L; Plomp, Astrid S AS; Bergen, Arthur A AA; van Genderen, Maria M MM; Boon, Camiel J F CJF

Publication Date: 2023-04-19

Variant appearance in text: PC: P23H

PubMed Link: 37108642

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• ijms-24-07481.pdf

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Myelinosome organelles in pathological retinas: ubiquitous presence and dual role in ocular proteostasis maintenance.

Neural Regeneration Research

Yefimova, Marina G MG

Publication Date: 2023-05

Variant appearance in text: PC: Pro23His

PubMed Link: 36254982

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• NRR-18-1009.pdf

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Implications of Neural Plasticity in Retinal Prosthesis.

Investigative Ophthalmology & Visual Science

Caravaca-Rodriguez, Daniel D; Gaytan, Susana P SP; Suaning, Gregg J GJ; Barriga-Rivera, Alejandro A

Publication Date: 2022-10-03

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PubMed Link: 36251317

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• iovs-63-11-11.pdf

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Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.

Frontiers In Endocrinology

Ulloa-Aguirre, Alfredo A; Zariñán, Teresa T; Gutiérrez-Sagal, Rubén R; Tao, Ya-Xiong YX

Publication Date: 2022

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PubMed Link: 36093106

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• fendo-13-934685.pdf

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Insulin receptor activation by proinsulin preserves synapses and vision in retinitis pigmentosa.

Cell Death & Disease

Sánchez-Cruz, Alonso A; Hernández-Pinto, Alberto A; Lillo, Concepción C; Isiegas, Carolina C; Marchena, Miguel M; Lizasoain, Ignacio I; Bosch, Fátima F; de la Villa, Pedro P; Hernández-Sánchez, Catalina C; de la Rosa, Enrique J EJ

Publication Date: 2022-04-20

Variant appearance in text: PC: P23H

PubMed Link: 35444190

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• 41419_2022_Article_4839.pdf

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Effects of tACS-Like Electrical Stimulation on Off- and On-Off Center Retinal Ganglion Cells: Part II.

Eye And Brain

Strang, Christianne E CE; Amthor, Franklin R FR

Publication Date: 2022

Variant appearance in text: PC: P23H

PubMed Link: 35115857

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• eb-14-17.pdf

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New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations.

Cellular And Molecular Life Sciences : Cmls

Herrera-Hernández, María Guadalupe MG; Razzaghi, Neda N; Fernandez-Gonzalez, Pol P; Bosch-Presegué, Laia L; Vila-Julià, Guillem G; Pérez, Juan Jesús JJ; Garriga, Pere P

Publication Date: 2022-01-07

Variant appearance in text: PC: P23H

PubMed Link: 34997336

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• 18_2021_Article_4086.pdf

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New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations.

Cellular And Molecular Life Sciences : Cmls

Herrera-Hernández, María Guadalupe MG; Razzaghi, Neda N; Fernandez-Gonzalez, Pol P; Bosch-Presegué, Laia L; Vila-Julià, Guillem G; Pérez, Juan Jesús JJ; Garriga, Pere P

Publication Date: 2022-01-07

Variant appearance in text: PC: P23H

PubMed Link: 34997336

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• 18_2021_Article_4086.pdf

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Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.

Computational And Structural Biotechnology Journal

Felline, Angelo A; Schiroli, Davide D; Comitato, Antonella A; Marigo, Valeria V; Fanelli, Francesca F

Publication Date: 2021

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PubMed Link: 34849206

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• main.pdf

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Effects of tACS-Like Electrical Stimulation on On-Center Retinal Ganglion Cells: Part I.

Eye And Brain

Amthor, Franklin R FR; Strang, Christianne E CE

Publication Date: 2021

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PubMed Link: 34285622

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• eb-13-175.pdf

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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.

Nature Communications

Banfi, Federica F; Rubio, Alicia A; Zaghi, Mattia M; Massimino, Luca L; Fagnocchi, Giulia G; Bellini, Edoardo E; Luoni, Mirko M; Cancellieri, Cinzia C; Bagliani, Anna A; Di Resta, Chiara C; Maffezzini, Camilla C; Ianielli, Angelo A; Ferrari, Maurizio M; Piazza, Rocco R; Mologni, Luca L; Broccoli, Vania V; Sessa, Alessandro A

Publication Date: 2021-06-30

Variant appearance in text: PC: P23H

PubMed Link: 34193871

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• 41467_2021_Article_24391.pdf

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The role of cGMP-signalling and calcium-signalling in photoreceptor cell death: perspectives for therapy development.

Pflugers Archiv : European Journal Of Physiology

Das, Soumyaparna S; Chen, Yiyi Y; Yan, Jie J; Christensen, Gustav G; Belhadj, Soumaya S; Tolone, Arianna A; Paquet-Durand, François F

Publication Date: 2021-09

Variant appearance in text: PC: P23H

PubMed Link: 33864120

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• 424_2021_Article_2556.pdf

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Taurine and oxidative stress in retinal health and disease.

Cns Neuroscience & Therapeutics

Castelli, Vanessa V; Paladini, Antonella A; d'Angelo, Michele M; Allegretti, Marcello M; Mantelli, Flavio F; Brandolini, Laura L; Cocchiaro, Pasquale P; Cimini, Annamaria A; Varrassi, Giustino G

Publication Date: 2021-04

Variant appearance in text: PC: P23H

PubMed Link: 33621439

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• Main text
• CNS-27-403.pdf

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Nrf2 overexpression rescues the RPE in mouse models of retinitis pigmentosa.

Jci Insight

Wu, David M DM; Ji, Xuke X; Ivanchenko, Maryna V MV; Chung, Michelle M; Piper, Mary M; Rana, Parimal P; Wang, Sean K SK; Xue, Yunlu Y; West, Emma E; Zhao, Sophia R SR; Xu, Hongbin H; Cicconet, Marcelo M; Xiong, Wenjun W; Cepko, Constance L CL

Publication Date: 2021-01-25

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PubMed Link: 33491671

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• jciinsight-6-145029.pdf

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ALDH2 protects naturally aged mouse retina via inhibiting oxidative stress-related apoptosis and enhancing unfolded protein response in endoplasmic reticulum.

Aging

Long, Pan P; He, Mengshan M; Yan, Weiming W; Chen, Wei W; Wei, Dongyu D; Wang, Siwang S; Zhang, Zuoming Z; Ge, Wei W; Chen, Tao T

Publication Date: 2020-12-19

Variant appearance in text: PC: P23H

PubMed Link: 33411685

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• aging-13-202325.pdf

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Targeted Knockout of the Vegfa Gene in the Retina by Subretinal Injection of RNP Complexes Containing Cas9 Protein and Modified sgRNAs.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Holmgaard, Andreas Braae AB; Askou, Anne Louise AL; Jensen, Emilie Grarup EG; Alsing, Sidsel S; Bak, Rasmus O RO; Mikkelsen, Jacob Giehm JG; Corydon, Thomas J TJ

Publication Date: 2021-01-06

Variant appearance in text: PC: P23H

PubMed Link: 33022212

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• main.pdf
• mmc2.pdf

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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.

International Journal Of Molecular Sciences

Liguori, Ludovica L; Monticelli, Maria M; Allocca, Mariateresa M; Hay Mele, Bruno B; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2020-01-13

Variant appearance in text: PC: P23H

PubMed Link: 31940970

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• Main text
• ijms-21-00489.pdf

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Crystal structure of dopamine receptor D4 bound to the subtype selective ligand, L745870.

Elife

Zhou, Ye Y; Cao, Can C; He, Lingli L; Wang, Xianping X; Zhang, Xuejun Cai XC

Publication Date: 2019-11-21

Variant appearance in text: PC: P23H

PubMed Link: 31750832

Variant Present in the following documents:

• elife-48822.pdf

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Disrupted Blood-Retina Lysophosphatidylcholine Transport Impairs Photoreceptor Health But Not Visual Signal Transduction.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Lobanova, Ekaterina S ES; Schuhmann, Kai K; Finkelstein, Stella S; Lewis, Tylor R TR; Cady, Martha A MA; Hao, Ying Y; Keuthan, Casey C; Ash, John D JD; Burns, Marie E ME; Shevchenko, Andrej A; Arshavsky, Vadim Y VY

Publication Date: 2019-12-04

Variant appearance in text: PC: P23H

PubMed Link: 31676603

Variant Present in the following documents:

• Main text

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Metabolic Deregulation of the Blood-Outer Retinal Barrier in Retinitis Pigmentosa.

Cell Reports

Wang, Wei W; Kini, Ashwini A; Wang, Yekai Y; Liu, Tingting T; Chen, Yao Y; Vukmanic, Eric E; Emery, Douglas D; Liu, Yongqing Y; Lu, Xiaoqin X; Jin, Lei L; Lee, San Joon SJ; Scott, Patrick P; Liu, Xiao X; Dean, Kevin K; Lu, Qingxian Q; Fortuny, Enzo E; James, Robert R; Kaplan, Henry J HJ; Du, Jianhai J; Dean, Douglas C DC

Publication Date: 2019-07-30

Variant appearance in text: PC: P23H

PubMed Link: 31365873

Variant Present in the following documents:

• Main text
• NIHMS1536142-supplement-2.pdf
• NIHMS1536142-supplement-1.pdf
• nihms-1536142.pdf

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ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.

Progress In Retinal And Eye Research

Hopiavuori, Blake R BR; Anderson, Robert E RE; Agbaga, Martin-Paul MP

Publication Date: 2019-03

Variant appearance in text: PC: P23H

PubMed Link: 30982505

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• Main text
• nihms-1041933.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: PC: 68C>A; Pro23His

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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Inhibition of Diabetes-Induced Lysyl Oxidase Overexpression Prevents Retinal Vascular Lesions Associated With Diabetic Retinopathy.

Investigative Ophthalmology & Visual Science

Song, Brian B; Kim, Dongjoon D; Nguyen, Ngan-Ha NH; Roy, Sayon S

Publication Date: 2018-12-03

Variant appearance in text: PC: P23H

PubMed Link: 30550614

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• i1552-5783-59-15-5965.pdf

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Effects of tDCS-like electrical stimulation on retinal ganglion cells.

Eye And Brain

Strang, Christianne E CE; Ray, Mary Katherine MK; Boggiano, Mary M MM; Amthor, Franklin R FR

Publication Date: 2018

Variant appearance in text: PC: P23H

PubMed Link: 30214335

Variant Present in the following documents:

• eb-10-065.pdf

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Effect of sevoflurane preconditioning on light-induced retinal damage in diabetic rats.

Romanian Journal Of Ophthalmology

Iliescu, Daniela Adriana DA; Ciubotaru, Alexandra A; Ghiţă, Mihai Aurelian MA; Dumitru, Adrian A; Zăgrean, Leon L

Publication Date: 2018

Variant appearance in text: PC: P23H

PubMed Link: 29796431

Variant Present in the following documents:

• RomJOphthalmol-62-24.pdf

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Modulation of GSK-3 provides cellular and functional neuroprotection in the rd10 mouse model of retinitis pigmentosa.

Molecular Neurodegeneration

Sánchez-Cruz, Alonso A; Villarejo-Zori, Beatriz B; Marchena, Miguel M; Zaldivar-Díez, Josefa J; Palomo, Valle V; Gil, Carmen C; Lizasoain, Ignacio I; de la Villa, Pedro P; Martínez, Ana A; de la Rosa, Enrique J EJ; Hernández-Sánchez, Catalina C

Publication Date: 2018-04-16

Variant appearance in text: PC: P23H

PubMed Link: 29661219

Variant Present in the following documents:

• 13024_2018_Article_251.pdf

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Ligand channel in pharmacologically stabilized rhodopsin.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Mattle, Daniel D; Kuhn, Bernd B; Aebi, Johannes J; Bedoucha, Marc M; Kekilli, Demet D; Grozinger, Nathalie N; Alker, Andre A; Rudolph, Markus G MG; Schmid, Georg G; Schertler, Gebhard F X GFX; Hennig, Michael M; Standfuss, Jörg J; Dawson, Roger J P RJP

Publication Date: 2018-04-03

Variant appearance in text: PC: P23H

PubMed Link: 29555765

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• Main text
• pnas.201718084.pdf
• pnas.1718084115.sapp.pdf

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Regulation of GPCR expression through an interaction with CCT7, a subunit of the CCT/TRiC complex.

Molecular Biology Of The Cell

Génier, Samuel S; Degrandmaison, Jade J; Moreau, Pierrick P; Labrecque, Pascale P; Hébert, Terence E TE; Parent, Jean-Luc JL

Publication Date: 2016-12-01

Variant appearance in text: PC: P23H

PubMed Link: 27708139

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• 3800.pdf

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Effects of Dopamine D2-Like Receptor Antagonists on Light Responses of Ganglion Cells in Wild-Type and P23H Rat Retinas.

Plos One

Jensen, Ralph R

Publication Date: 2015

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PubMed Link: 26717015

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• Main text
• pone.0146154.pdf

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Mass spectrometric analyses of phospholipids in the S334ter-3 rat model of retinal degeneration.

Molecular Vision

Chen, Caroline Y CY; Lam, Byron L BL; Bhattacharya, Sanjoy K SK

Publication Date: 2014

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PubMed Link: 25489232

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• mv-v20-1605.pdf

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Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophies.

Clinical Lipidology

Liu, Aihua A; Lin, Yanhua Y; Terry, Ryan R; Nelson, Kelly K; Bernstein, Paul S PS

Publication Date: 2011

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PubMed Link: 25324899

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• Main text

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Abrupt onset of mutations in a developmentally regulated gene during terminal differentiation of post-mitotic photoreceptor neurons in mice.

Plos One

Sandoval, Ivette M IM; Price, Brandee A BA; Gross, Alecia K AK; Chan, Fung F; Sammons, Joshua D JD; Wilson, John H JH; Wensel, Theodore G TG

Publication Date: 2014

Variant appearance in text: PC: P23H

PubMed Link: 25264759

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• pone.0108135.pdf

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In vivo effect of mutant ELOVL4 on the expression and function of wild-type ELOVL4.

Investigative Ophthalmology & Visual Science

Mandal, Nawajes A NA; Tran, Julie-Thu A JT; Zheng, Lixin L; Wilkerson, Joseph L JL; Brush, Richard S RS; McRae, Joel J; Agbaga, Martin-Paul MP; Zhang, Kang K; Petrukhin, Konstantin K; Ayyagari, Radha R; Anderson, Robert E RE

Publication Date: 2014-04-25

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PubMed Link: 24644051

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• Main text

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Pharmacological chaperoning: a primer on mechanism and pharmacology.

Pharmacological Research

Leidenheimer, Nancy J NJ; Ryder, Katelyn G KG

Publication Date: 2014-05

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PubMed Link: 24530489

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• Main text

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An inducible expression system to measure rhodopsin transport in transgenic Xenopus rod outer segments.

Plos One

Zhuo, Xinming X; Haeri, Mohammad M; Solessio, Eduardo E; Knox, Barry E BE

Publication Date: 2013

Variant appearance in text: PC: P23H

PubMed Link: 24349323

Variant Present in the following documents:

• pone.0082629.pdf

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Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

Plos One

Tiwari, Sarika S; Hudson, Scott S; Gattone, Vincent H VH; Miller, Caroline C; Chernoff, Ellen A G EA; Belecky-Adams, Teri L TL

Publication Date: 2013

Variant appearance in text: PC: P23H

PubMed Link: 23516626

Variant Present in the following documents:

• pone.0059306.pdf

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Clinical and Rehabilitative Management of Retinitis Pigmentosa: Up-to-Date.

Current Genomics

Parmeggiani, Francesco F; Sato, Giovanni G; De Nadai, Katia K; Romano, Mario R MR; Binotto, Andrea A; Costagliola, Ciro C

Publication Date: 2011-06

Variant appearance in text: PC: P23H

PubMed Link: 22131870

Variant Present in the following documents:

• CG-12-250.pdf

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Role of membrane integrity on G protein-coupled receptors: Rhodopsin stability and function.

Progress In Lipid Research

Jastrzebska, Beata B; Debinski, Aleksander A; Filipek, Slawomir S; Palczewski, Krzysztof K

Publication Date: 2011-07

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PubMed Link: 21435354

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• Main text

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Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal.

The Journal Of Biological Chemistry

Noorwez, Syed M SM; Sama, Reddy Ranjith K RR; Kaushal, Shalesh S

Publication Date: 2009-11-27

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PubMed Link: 19801547

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• Main text

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Extreme retinal remodeling triggered by light damage: implications for age related macular degeneration.

Molecular Vision

Marc, Robert E RE; Jones, B W BW; Watt, C B CB; Vazquez-Chona, F F; Vaughan, D K DK; Organisciak, D T DT

Publication Date: 2008-04-25

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PubMed Link: 18483561

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• mv-v14-782.pdf

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Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice.

Bmc Neuroscience

Morrow, Eric M EM; Furukawa, Takahisa T; Raviola, Elio E; Cepko, Constance L CL

Publication Date: 2005-01-27

Variant appearance in text: PC: Pro23His

PubMed Link: 15676071

Variant Present in the following documents:

• 1471-2202-6-5.pdf

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