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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 96038602.

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

Laura Sánchez-Bellver, Andrea Férriz-Gordillo, Marc Carrillo-Pz, Laura Rabanal, Francesc R. Garcia-Gonzalo, Gemma Marfany

Int J Mol Sci. 2022 Oct; 23(20): 12527. Published online 2022 Oct 19. doi: 10.3390/ijms232012527

PMCID:: PMC9603860

Abstract Article PDF–3.4M

Select item 88574703.

Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1

Ravi P. Yadav, Kimberly Boyd, Nikolai O. Artemyev

J Biol Chem. 2022 Mar; 298(3): 101620. Published online 2022 Jan 21. doi: 10.1016/j.jbc.2022.101620

PMCID:: PMC8857470

Abstract Article PDF–1.3M

Select item 84923444.

Replenishment of TCA cycle intermediates provides photoreceptor resilience against neurodegeneration during progression of retinitis pigmentosa

Ashley A. Rowe, Pinkal D. Patel, Ruth Gordillo, Katherine J. Wert

JCI Insight. 2021 Sep 8; 6(17): e150898. Published online 2021 Sep 8. doi: 10.1172/jci.insight.150898

PMCID:: PMC8492344

Abstract Article PDF–2.4M

Select item 78384185.

Absence of S100A4 in the mouse lens induces an aberrant retina-specific differentiation program and cataract

Rupalatha Maddala, Junyuan Gao, Richard T. Mathias, Tylor R. Lewis, Vadim Y. Arshavsky, Adriana Levine, Jonathan M. Backer, Anne R. Bresnick, Ponugoti V. Rao

Sci Rep. 2021; 11: 2203. Published online 2021 Jan 26. doi: 10.1038/s41598-021-81611-y

PMCID:: PMC7838418

Abstract Article PDF–6.5M

Select item 72270286.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Abstract Article PDF–5.4M

Select item 70054477.

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration

Katherine J. Wert, Gabriel Velez, Vijaya L. Kanchustambham, Vishnu Shankar, Lucy P. Evans, Jesse D. Sengillo, Richard N. Zare, Alexander G. Bassuk, Stephen H. Tsang, Vinit B. Mahajan

EBioMedicine. 2020 Feb; 52: 102636. Published online 2020 Feb 3. doi: 10.1016/j.ebiom.2020.102636

PMCID:: PMC7005447

Abstract Article PDF–4.8M

Select item 68421178.

Nucleome Dynamics During Retinal Development

Jackie L. Norrie, Marybeth S. Lupo, Beisi Xu, Marc Valentine, Daniel Putnam, Issam Al Diri, Lyra Griffiths, Jiakun Zhang, Dianna Johnson, John Easton, Ying Shao, Victoria Honnell, Sharon Frase, Shondra Miller, Valerie Stewart, Xin Zhou, Xiang Chen, Michael A. Dyer

Neuron. Author manuscript; available in PMC 2020 Nov 6.

Published in final edited form as: Neuron. 2019 Nov 6; 104(3): 512–528.e11. Published online 2019 Sep 4. doi: 10.1016/j.neuron.2019.08.002

PMCID:: PMC6842117

Abstract Article PDF–4.3M

Select item 60944869.

Genetic Rescue Reverses Microglial Activation in Preclinical Models of Retinitis Pigmentosa

Lijuan Zhang, Xuan Cui, Ruben Jauregui, Karen Sophia Park, Sally Justus, Yi-Ting Tsai, Jimmy K. Duong, Chun-Wei Hsu, Wen-Hsuan Wu, Christine L. Xu, Chyuan-Sheng Lin, Stephen H. Tsang

Mol Ther. 2018 Aug 1; 26(8): 1953–1964. Published online 2018 Jun 21. doi: 10.1016/j.ymthe.2018.06.014

PMCID:: PMC6094486

Abstract Article PDF–4.8M

Select item 578915810.

Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation

Cecinio C. Ronquillo, Christin Hanke-Gogokhia, Monica P. Revelo, Jeanne M. Frederick, Li Jiang, Wolfgang Baehr

FASEB J. 2016 Oct; 30(10): 3400–3412. Published online 2016 Jun 21. doi: 10.1096/fj.201600511R

PMCID:: PMC5789158

Abstract Article

Select item 555167511.

Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase α- and β-subunits, and identification of β′-, a putative β-subunit isozyme produced by alternative splicing of the β-subunit gene

Wolfgang Baehr, Mary S. Champagne, Andrea K. Lee, Steven J. Pittler

FEBS Lett. Author manuscript; available in PMC 2017 Aug 10.

Published in final edited form as: FEBS Lett. 1991 Jan 14; 278(1): 107–114. doi: 10.1016/0014-5793(91)80095-k

PMCID:: PMC5551675

Abstract Article PDF–2.7M

Select item 497943912.

Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations

K Jiao, A Sahaboglu, E Zrenner, M Ueffing, P A R Ekström, F Paquet-Durand

Cell Death Discov. 2016; 2: 16040. Published online 2016 Jul 4. doi: 10.1038/cddiscovery.2016.40

PMCID:: PMC4979439

Abstract Article PDF–2.6M

Select item 486590113.

Mfsd2a Is a Transporter for the Essential ω-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development

Bernice H. Wong, Jia Pei Chan, Amaury Cazenave-Gassiot, Rebecca W. Poh, Juat Chin Foo, Dwight L. A. Galam, Sujoy Ghosh, Long N. Nguyen, Veluchamy A. Barathi, Sia W. Yeo, Chi D. Luu, Markus R. Wenk, David L. Silver

J Biol Chem. 2016 May 13; 291(20): 10501–10514. Published online 2016 Mar 22. doi: 10.1074/jbc.M116.721340

PMCID:: PMC4865901

Abstract Article PDF–5.4M

Select item 440563614.

Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa

Daniel Murphy, Ratnesh Singh, Saravanan Kolandaivelu, Visvanathan Ramamurthy, Peter Stoilov

Mol Cell Biol. 2015 May; 35(10): 1860–1870. Prepublished online 2015 Mar 16. Published online 2015 Apr 21. doi: 10.1128/MCB.00040-15

PMCID:: PMC4405636

Abstract Article PDF–3.0M

Select item 386936515.

Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa

Katherine J. Wert, Javier Sancho-Pelluz, Stephen H. Tsang

Hum Mol Genet. 2014 Jan 15; 23(2): 514–523. Published online 2013 Sep 18. doi: 10.1093/hmg/ddt452

PMCID:: PMC3869365

Abstract Article PDF–882K

Select item 371371816.

Cone Phosphodiesterase-6α′ Restores Rod Function and Confers Distinct Physiological Properties in the Rod Phosphodiesterase-6β-Deficient rd10 Mouse

Wen-Tao Deng, Keisuke Sakurai, Saravanan Kolandaivelu, Alexander V. Kolesnikov, Astra Dinculescu, Jie Li, Ping Zhu, Xuan Liu, Jijing Pang, Vince A. Chiodo, Sanford L. Boye, Bo Chang, Visvanathan Ramamurthy, Vladimir J. Kefalov, William W. Hauswirth

J Neurosci. 2013 Jul 17; 33(29): 11745–11753. doi: 10.1523/JNEUROSCI.1536-13.2013