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Select item 106650161.

ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims

Tylor R Lewis, Mustafa S Makia, Carson M Castillo, Ying Hao, Muayyad R Al-Ubaidi, Nikolai P Skiba, Shannon M Conley, Vadim Y Arshavsky, Muna I Naash

eLife. 2023; 12: RP89444. Published online 2023 Nov 22. doi: 10.7554/eLife.89444

PMCID:: PMC10665016

Abstract Article PDF–12M

Select item 106201712.

Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation

María José Ruiz-Pastor, Xavier Sánchez-Sáez, Oksana Kutsyr, Henar Albertos-Arranz, Carla Sánchez-Castillo, Isabel Ortuño-Lizarán, Natalia Martínez-Gil, Lorena Vidal-Gil, Lucía Méndez, Manuel Sánchez-Martín, Victoria Maneu, Pedro Lax, Nicolás Cuenca

Cell Death Dis. 2023 Nov; 14(11): 711. Published online 2023 Nov 1. doi: 10.1038/s41419-023-06243-8

PMCID:: PMC10620171

Abstract Article PDF–19M

Select item 105997963.

Prph2 disease mutations lead to structural and functional defects in the RPE

Lars Tebbe, Haarthi Sakthivel, Mustafa S. Makia, Mashal Kakakhel, Shannon M. Conley, Muayyad R. Al-Ubaidi, Muna I. Naash

FASEB J. Author manuscript; available in PMC 2023 Oct 25.

Published in final edited form as: FASEB J. 2022 May; 36(5): e22284. doi: 10.1096/fj.202101562RR

PMCID:: PMC10599796

Abstract Article PDF–4.9M

Select item 96721294.

Ciliary neurotrophic factor-mediated neuroprotection involves enhanced glycolysis and anabolism in degenerating mouse retinas

Kun Do Rhee, Yanjie Wang, Johanna ten Hoeve, Linsey Stiles, Thao Thi Thu Nguyen, Xiangmei Zhang, Laurent Vergnes, Karen Reue, Orian Shirihai, Dean Bok, Xian-Jie Yang

Nat Commun. 2022; 13: 7037. Published online 2022 Nov 17. doi: 10.1038/s41467-022-34443-x

PMCID:: PMC9672129

Abstract Article PDF–6.1M

Select item 96038605.

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 91039126.

Enhanced cGMP Interactor Rap Guanine Exchange Factor 4 (EPAC2) Expression and Activity in Degenerating Photoreceptors: A Neuroprotective Response?

Michel Rasmussen, Jiaming Zhou, Frank Schwede, Per Ekström

Int J Mol Sci. 2022 May; 23(9): 4619. Published online 2022 Apr 21. doi: 10.3390/ijms23094619

PMCID:: PMC9103912

Abstract Article PDF–3.2M

Select item 85915407.

Photoreceptor nanotubes mediate the in vivo exchange of intracellular material

Arturo Ortin‐Martinez, Nicole E Yan, En Leh Samuel Tsai, Lacrimioara Comanita, Akshay Gurdita, Nobuhiko Tachibana, Zhongda C Liu, Suying Lu, Parnian Dolati, Neno T Pokrajac, Ahmed El‐Sehemy, Philip E B Nickerson, Carol Schuurmans, Rod Bremner, Valerie A Wallace

EMBO J. 2021 Nov 15; 40(22): e107264. Published online 2021 Sep 8. doi: 10.15252/embj.2020107264

PMCID:: PMC8591540

Abstract Article PDF–5.1M

Select item 83866008.

Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activation

Mingyu Pan, Yue Yin, Xinxia Wang, Quanyi Wang, Lele Zhang, Haiyang Hu, Chen Wang

Autophagy. 2021; 17(8): 1873–1888. Published online 2020 Aug 2. doi: 10.1080/15548627.2020.1796015

PMCID:: PMC8386600

Abstract Article PDF–8.5M

Select item 80550769.

Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization

Tylor R. Lewis, Mustafa S. Makia, Carson M. Castillo, Muayyad R. Al-Ubaidi, Muna I. Naash, Vadim Y. Arshavsky

J Neurosci. 2021 Apr 21; 41(16): 3588–3596. doi: 10.1523/JNEUROSCI.0041-21.2021

PMCID:: PMC8055076

Abstract Article PDF–3.1M

Select item 783841810.

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 783314111.

Pupillary reflex and behavioral masking responses to light as functional measures of retinal degeneration in mice

Ethan O. Contreras, Carley G. Dearing, Crystal A. Ashinhurst, Betty A. Fish, Sajila N. Hossain, Ariana M. Rey, Primal D. Silva, Stewart Thompson

PLoS One. 2021; 16(1): e0244702. Published online 2021 Jan 25. doi: 10.1371/journal.pone.0244702

PMCID:: PMC7833141

Abstract Article PDF–1.7M

Select item 759263012.

Novel molecular mechanisms for Prph2-associated pattern dystrophy

Dibyendu Chakraborty, Daniel G. Strayve, Mustafa S. Makia, Shannon M. Conley, Mashal Kakahel, Muayyad R. Al-Ubaidi, Muna I. Naash

FASEB J. Author manuscript; available in PMC 2020 Oct 28.

Published in final edited form as: FASEB J. 2020 Jan; 34(1): 1211–1230. Published online 2019 Nov 29. doi: 10.1096/fj.201901888R

PMCID:: PMC7592630

Abstract Article PDF–5.5M

Select item 753053313.

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease

Daniel Strayve, Mustafa S Makia, Mashal Kakakhel, Haarthi Sakthivel, Shannon M Conley, Muayyad R Al-Ubaidi, Muna I Naash

Hum Mol Genet. 2020 Aug 15; 29(16): 2708–2722. Published online 2020 Jul 27. doi: 10.1093/hmg/ddaa160

PMCID:: PMC7530533

Abstract Article PDF–2.6M

Select item 745610214.

Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival

Mashal Kakakhel, Lars Tebbe, Mustafa S. Makia, Shannon M. Conley, David M. Sherry, Muayyad R. Al-Ubaidi, Muna I. Naash

Proc Natl Acad Sci U S A. 2020 Aug 25; 117(34): 20615–20624. Published online 2020 Aug 10. doi: 10.1073/pnas.2010751117

PMCID:: PMC7456102

Abstract Article PDF–3.6M

Select item 732560415.

Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice

Arpad Palfi, Adlet Yesmambetov, Pete Humphries, Karsten Hokamp, G. Jane Farrar

Front Neurosci. 2020; 14: 656. Published online 2020 Jun 23. doi: 10.3389/fnins.2020.00656

PMCID:: PMC7325604

Abstract Article PDF–7.0M

Select item 722702816.

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 717112117.

Impacts of ciliary neurotrophic factor on the retinal transcriptome in a mouse model of photoreceptor degeneration

Yanjie Wang, Kun-Do Rhee, Matteo Pellegrini, Xian-Jie Yang

Sci Rep. 2020; 10: 6593. Published online 2020 Apr 20. doi: 10.1038/s41598-020-63519-1

PMCID:: PMC7171121

Abstract Article PDF–5.6M

Select item 693653018.

Photoreceptor disc membranes are formed through an Arp2/3-dependent lamellipodium-like mechanism

William J. Spencer, Tylor R. Lewis, Sebastien Phan, Martha A. Cady, Ekaterina O. Serebrovskaya, Nicholas F. Schneider, Keun-Young Kim, Lisa A. Cameron, Nikolai P. Skiba, Mark H. Ellisman, Vadim Y. Arshavsky

Proc Natl Acad Sci U S A. 2019 Dec 26; 116(52): 27043–27052. Published online 2019 Dec 16. doi: 10.1073/pnas.1913518117

PMCID:: PMC6936530

Abstract Article PDF–2.1M

Select item 682662119.

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

Claudia Strafella, Valerio Caputo, Giulia Pagliaroli, Nicola Iozzo, Giulia Campoli, Stefania Carboni, Cristina Peconi, Rosaria Maria Galota, Stefania Zampatti, Giulietta Minozzi, Giuseppe Novelli, Emiliano Giardina, Raffaella Cascella

Genes (Basel) 2019 Oct; 10(10): 792. Published online 2019 Oct 12. doi: 10.3390/genes10100792