Article
Cell Biology
Lucie Crouzier, Camille Diez, Elodie M. Richard, Nicolas Cubedo, Clement Barbereau, Mireille Rossel, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Summary: Retinitis pigmentosa (RP) is a common inherited retinal degeneration disease with no current treatment available. The zebrafish pde6a(Q70X) mutant serves as an ideal model for studying the progression of RP and potential treatments.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Ayoub Lassoued, Furu Zhang, Kazuhiro Kurokawa, Yan Liu, Marcel T. Bernucci, James A. Crowell, Donald T. Miller
Summary: Retinitis pigmentosa (RP) is a group of inherited retinal degenerative diseases, with cone photoreceptor death being the most debilitating phase. High-resolution retinal imaging methods and cone optoretinogram show promise in visualizing individual cone cells and their dysfunction in RP progression.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Multidisciplinary Sciences
Yunlu Xue, Xiaomei Sun, Sean K. Wang, Gayle B. Collin, Vladimir J. Kefalov, Constance L. Cepko
Summary: Retinitis pigmentosa (RP) is an ocular disease characterized by the loss of night vision, followed by the loss of daylight vision. The timing of cone electroretinogram (ERG) decline in RP mouse models was investigated using physiological assays, and a correlation with the loss of rods was found. Abnormally high chromophore supply to cones upon the loss of rods is toxic to cones, suggesting a potential therapy in some forms of RP to slow down the turnover or reduce the level of visual chromophore in the retina.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Biology
Duygu Karademir, Vyara Todorova, Lynn J. A. Ebner, Marijana Samardzija, Christian Grimm
Summary: This study utilizes droplet-based single-cell RNA sequencing to investigate the degeneration process in rod and cone photoreceptor cells in an RP mouse model. The results identify early changes in rods and potential early responses in cones, suggesting mechanisms involved in secondary cone degeneration. Furthermore, the study implicates EGR1 as a potential key regulator of early degenerative events in both types of photoreceptor cells.
Article
Ophthalmology
Paul. S. Micevych, Jessica Wong, Hao Zhou, Ruikan. K. Wang, Travis. C. Porco, Joseph Carroll, Austin Roorda, Jacque. L. Duncan
Summary: This study compared cone structure and function between patients with RPGR and USH2A-related retinal degeneration. It found that outer retinal structure and choriocapillaris perfusion were more abnormal in patients with RPGR-related retinal degeneration compared to those with USH2A-related retinal degeneration. However, there were no significant differences in below-normal regional sensitivity between rod-cone degeneration associated with variants in these 2 genes expressed at the photoreceptor-connecting cilium.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Genetics & Heredity
Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon Woo
Summary: This study investigated the clinical features, natural course, and genetic characteristics of Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP). The study found that the generalized RP group had a higher rate of visual field impairment progression to late-stage RP compared to the sector RP group. Best-corrected visual acuity deterioration was observed only in the generalized RP group. The study also identified several RHO gene mutations, including some that presented with both generalized and sector RP phenotypes.
FRONTIERS IN GENETICS
(2023)
Review
Multidisciplinary Sciences
Ammanie Abdul-Fatah, Leila Esmaeilisaraji, Crisel Mae Juan, Martin Holcik
Summary: This paper provides support for the creation of a mitochondrial disease patient registry in Canada through a systematic scoping review. It also fills a knowledge gap by providing a narrative synthesis of published literature on these registries.
Article
Neurosciences
Ilaria Piano, Francesca Corsi, Beatrice Polini, Claudia Gargini
Summary: Treatment with naringenin and quercetin can alleviate retinal degeneration by preserving photoreceptor functionality and increasing antioxidant and anti-apoptotic pathways.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Renske Schellens, Erik de Vrieze, Pam Graave, Sanne Broekman, Kerstin Nagel-Wolfrum, Theo Peters, Hannie Kremer, Rob W. J. Collin, Erwin van Wijk
Summary: Investigating the therapeutic potential of exon skipping for EYS-associated RP, this study employed CRISPR/Cas9 to generate zebrafish with the deletion of exons 37-41 of human EYS. However, the results from this zebrafish model do not provide indications for skipping EYS exons 37-41 as an effective future treatment strategy for EYS-associated RP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Multidisciplinary Sciences
Meng Xiong, Chen Ou, Chang Yu, Jingyue Qiu, Jing Lu, Chaojun Fu, Qinghua Peng, Meiyan Zeng, Houpan Song
Summary: This study reveals that Qi-Shen-Tang may inhibit ferroptosis by inhibiting the NRF2/GPX4 signaling pathway, potentially reducing retinal tissue damage caused by retinitis pigmentosa.
Article
Plant Sciences
Chen Ou, Pengfei Jiang, Ye Tian, Zhen Yao, Yijing Yang, Jun Peng, Meiyan Zeng, Houpan Song, Qinghua Peng
Summary: The study demonstrated that the combination of Fructus Lycii and Salvia miltiorrhiza Bunge extract has protective effects on retinitis pigmentosa, potentially through regulating the Nrf2/HO-1 pathway to inhibit oxidative stress.
JOURNAL OF ETHNOPHARMACOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P. M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schaeferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Summary: This study investigated the phenotypic and genotypic features of retinitis pigmentosa associated with PDE6B gene variants, with most mutations being splicing defects and missense mutations. 43% of the PDE6B variants found in patients were novel, contributing to the mutation spectrum of PDE6B.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Andrew Vargas, Kyra L. Yamamoto, Cheryl Mae Craft, Eun-Jin Lee
Summary: In the study, it was found that the cytoprotective protein clusterin could inhibit photoreceptor degeneration in a rat model of RP, and suppress the up-regulation of nNOS expression in the RP retina, extending the survival time of rod photoreceptors.
Review
Medicine, General & Internal
Abinaya Thenappan, Arjun Nanda, Chang Sup Lee, Sun Young Lee
Summary: Timely recognition and differentiation of pseudo-RP cases is crucial due to the treatable nature of many such conditions. This review provides examples of pseudo-RP cases and an in-depth overview of RP masquerades, emphasizing the importance of accurate diagnoses for effective interventions. It also discusses the role of genetic testing in RP patients and highlights the necessity of a precise clinical assessment for diagnosis and management.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Dongju Won, Joo-Yeon Hwang, Yeeun Shim, Suk Ho Byeon, Junwon Lee, Christopher Seungkyu Lee, Min Kim, Hyun Taek Lim, Jong Rak Choi, Seung-Tae Lee, Jinu Han
Summary: MEIs are often missed due to exceeding read lengths of short-read sequencing technologies, but a grep search program was developed in this study to efficiently detect the RP1 Alu insertion. The Alu insertion in RP1 exon 4 was found to be a common founder mutation in Korean population.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Eileen G. Russell, Jianfeng Guo, Elaine C. O'Sullivan, Caitriona M. O'Driscoll, Florence O. McCarthy, Thomas G. Cotter
INVESTIGATIONAL NEW DRUGS
(2016)
Article
Biochemistry & Molecular Biology
Alice C. Wyse Jackson, Sarah L. Roche, Ashleigh M. Byrne, Ana M. Ruiz-Lopez, Thomas G. Cotter
JOURNAL OF NEUROCHEMISTRY
(2016)
Review
Oncology
D. P. O'Leary, E. O'Leary, N. Foley, T. G. Cotter, J. H. Wang, H. P. Redmond
Article
Neurosciences
Alice C. Wyse-Jackson, Sarah L. Roche, Ana M. Ruiz-Lopez, Jennifer N. Moloney, Ashleigh M. Byrne, Thomas G. Cotter
EUROPEAN JOURNAL OF NEUROSCIENCE
(2016)
Review
Hematology
Ashok Kumar Jayavelu, Jennifer N. Moloney, Frank-D. Boehmer, Thomas G. Cotter
EXPERIMENTAL HEMATOLOGY
(2016)
Article
Developmental Biology
Sarah L. Roche, Alice C. Wyse-Jackson, Ashleigh M. Byrne, Ana M. Ruiz-Lopez, Thomas G. Cotter
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
(2016)
Article
Neurosciences
Ana M. Ruiz Lopez, Sarah L. Roche, Alice C. Wyse Jackson, Jennifer N. Moloney, Ashleigh M. Byrne, Thomas G. Cotter
EUROPEAN JOURNAL OF NEUROSCIENCE
(2017)
Article
Neurosciences
Sarah L. Roche, Ana M. Ruiz-Lopez, Jennifer N. Moloney, Ashleigh M. Byrne, Thomas G. Cotter
Article
Oncology
Jennifer N. Moloney, Joanna Stanicka, Thomas G. Cotter
Article
Medicine, Research & Experimental
Jianfeng Guo, Eileen G. Russell, Raphael Darcy, Thomas G. Cotter, Sharon L. McKenna, Mary R. Cahill, Caitriona M. O'Driscoll
MOLECULAR PHARMACEUTICS
(2017)
Article
Oncology
Jennifer N. Moloney, Ashok Kumar Jayavelu, Joanna Stanicka, Sarah L. Roche, Rebecca L. O'Brien, Sebastian Scholl, Frank-D. Boehmer, Thomas G. Cotter
Article
Multidisciplinary Sciences
Lieve Temmerman, Marijke M. Westra, Ilze Bot, Bart J. M. van Vlijmen, Niek Van Bree, Martine Bot, Kim L. L. Habets, Tom G. H. Keulers, Johan van der Vlag, Thomas G. Cotter, Theo J. C. van Berkel, Erik A. L. Biessen
SCIENTIFIC REPORTS
(2017)
Review
Cell Biology
Jennifer N. Moloney, Thomas G. Cotter
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2018)
Article
Multidisciplinary Sciences
Sarah L. Roche, Alice C. Wyse-Jackson, Ana M. Ruiz-Lopez, Ashleigh M. Byrne, Thomas G. Cotter
SCIENTIFIC REPORTS
(2017)
Article
Biochemistry & Molecular Biology
Ashleigh M. Byrne, Sarah L. Roche, Ana M. Ruiz-Lopez, Alice C. Wyse Jackson, Thomas G. Cotter