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
Ryoji Amamoto, Grace K. Wallick, Constance L. Cepko
Summary: Retinitis Pigmentosa (RP) is a progressive visual disorder caused by mutations in genes. Research has found that retinoic acid (RA) signaling is crucial for the survival of peripheral cones in the retina, providing a potential strategy for preserving cone-mediated vision.
Article
Biochemistry & Molecular Biology
Natalia Martinez-Gil, Oksana Kutsyr, Agustina Noailles, Laura Fernandez-Sanchez, Lorena Vidal, Xavier Sanchez-Saez, Carla Sanchez-Castillo, Pedro Lax, Nicolas Cuenca, Antonio G. Garcia, Victoria Maneu
Summary: P2X7R and P2X4R play important roles in retinal diseases and their expression increases during disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Enzo M. Vingolo, Lorenzo Casillo, Laura Contento, Francesca Toja, Antonio Florido
Summary: The study aimed to evaluate the relationship between circulating free radicals in blood and cystoid macular edema (CME) in Retinitis Pigmentosa (RP) patients. The results showed a significant increase in free oxygen radicals levels in RP patients with CME, suggesting that oxidative stress may accelerate cone cell damage.
Review
Neurosciences
Fangyuan Zhen, Tongdan Zou, Ting Wang, Yongwei Zhou, Shuqian Dong, Houbin Zhang
Summary: Rhodopsin is a light-sensitive receptor that initiates the phototransduction cascade. Mutations in the rhodopsin-encoding gene are the leading cause of retinitis pigmentosa. The high allelic heterogeneity suggests complex pathogenic mechanisms related to protein misfolding and dysfunction.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Alonso Sanchez-Cruz, Andrea C. Mendez, Ignacio Lizasoain, Pedro de la Villa, Enrique J. de la Rosa, Catalina Hernandez-Sanchez
Summary: The research indicates that TLR2 plays a key role in the progression of retinitis pigmentosa (RP). Complete elimination of Tlr2 can help alleviate the loss of visual function and mitigate the loss of photoreceptor cell numbers in RP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Anatomy & Morphology
Sohair A. Eltony, Heba S. Mohaseb, Amel A. Ahmed, Manal M. Sayed
Summary: This study aimed to investigate the effect of metformin on the retina of the ENU-induced rat model of RP. The results showed that metformin could reduce retinal degeneration and improve the morphology of glia and blood capillaries. This suggests that metformin has a neuroprotective effect on the retina.
Article
Biochemistry & Molecular Biology
Christina Zeitz, Cecile Mejecase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Demontant, Lisa Emmenegger, Audrey Schalk, Marion Neuille, Elise Orhan, Sebastien Augustin, Crystel Bonnet, Amrit Estivalet, Frederic Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Leveillard, Saddek Mohand-Said, Jose-Alain Sahel, Isabelle Audo
Summary: This study identified a novel pathogenic gene defect linked to a relatively mild inherited retinal disorder. It also revealed the localization of a specific protein in the retina for the first time, implicating its association with mitochondrial dysfunction. The findings contribute to the understanding of the pathogenic mechanisms in non-syndromic inherited retinal disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Ophthalmology
Elisa E. Cornish, Anagha Vaze, Robyn V. Jamieson, John R. Grigg
Summary: Recent advances in the understanding of inherited retinal diseases have led to a greater emphasis on multi-disciplinary collaboration to identify disease-causing genotypes. Visual electrophysiology plays an important role in guiding clinical geneticists towards a final molecular diagnosis.
Review
Medicine, General & Internal
Yulia Haraguchi, Tsun-Kang Chiang, Minzhong Yu
Summary: Inherited retinal dystrophies are a group of disorders that affect the structure and function of the retina. Electrophysiology testing is a valuable tool for assessing and diagnosing these conditions, as well as guiding disease classification and management.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Valentina Becherucci, Giacomo Maria Bacci, Elisa Marziali, Andrea Sodi, Franco Bambi, Roberto Caputo
Summary: Retinitis pigmentosa, also known as cone-rod dystrophy, is a rare disease and one of the main causes of low vision. Advances in molecular biology and gene-editing technologies have opened up new possibilities for the treatment of rare diseases. This review focuses on understanding the pathomolecular mechanisms underlying RP to explore the prospects of innovative approaches for its treatment.
Article
Cell Biology
Weiming Yan, Yan Sun, Yutong Wang, Wangjiao Liang, Yuxin Xia, Weihua Yan, Meizhu Chen, Tao Chen, Dongliang Li
Summary: This study aimed to investigate the effects of resveratrol (RSV), a SIRT1 activator, on photoreceptor degeneration in a rat model of retinitis pigmentosa (RP) induced by N-methyl-N-nitrosourea (MNU). The results showed that RSV was unable to prevent the decline of retinal function and the reduced thickness of the outer nuclear layer (ONL) in RP rats. Additionally, RSV did not significantly reduce the number of apoptotic photoreceptors and microglia cells in the retina. These findings suggest that RSV is unable to rescue photoreceptor degeneration in MNU-induced RP rats, possibly due to the consumption of NAD(+) by MNU.
ANIMAL CELLS AND SYSTEMS
(2023)
Review
Pharmacology & Pharmacy
Joseph Thomas Ortega, Beata Jastrzebska
Summary: The retina is a multilayer neuronal tissue at the back of the eye that transduces light into neural impulses. Many eye diseases lead to retina degeneration, with RP being a common hereditary disorder related to mutations in rhodopsin. In RP, sustained inflammation exacerbates due to abnormal genetic background, leading to photoreceptor decline.
Article
Ophthalmology
Xiaozhen Liu, Ruixuan Jia, Xiang Meng, Ying Li, Liping Yang
Summary: Studies on treating adRP using CRISPR/Cas9 targeting RHO show potential therapeutic effects, but the development of humanized mouse models is still in its early stages.
EXPERIMENTAL EYE RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Sandrine Joly, Lea Rodriguez, Vincent Pernet
Summary: The study found that in aging mice, the amyloidogenic and nonamyloidogenic pathways are not involved in visual function decline, and retinal neurons do not have the capacity to secrete A beta like other cortical and hippocampal neurons.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Ilaria Piano, Vanessa D'Antongiovanni, Lara Testai, Vincenzo Calderone, Claudia Gargini
FRONTIERS IN NEUROSCIENCE
(2019)
Article
Neurosciences
Antonio Falasconi, Martina Biagioni, Elena Novelli, Ilaria Piano, Claudia Gargini, Enrica Strettoi
FRONTIERS IN NEUROSCIENCE
(2019)
Article
Biochemistry & Molecular Biology
Lorenzo Guazzelli, Felicia D'Andrea, Stefania Sartini, Francesco Giorgelli, Gianluca Confini, Luca Quattrini, Ilaria Piano, Susanna Nencetti, Elisabetta Orlandini, Claudia Gargini, Concettina La Motta
BIOORGANIC CHEMISTRY
(2019)
Article
Cell Biology
Lara Testai, Eugenia Piragine, Ilaria Piano, Lorenzo Flori, Eleonora Da Pozzo, Vincenzo Miragliotta, Andrea Pirone, Valentina Citi, Lorenzo Di Cesare Mannelli, Simone Brogi, Sara Carpi, Alma Martelli, Paola Nieri, Claudia Martini, Carla Ghelardini, Claudia Gargini, Vincenzo Calderone
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
(2020)
Article
Neurosciences
Ilaria Piano, Vanessa D'Antongiovanni, Elena Novelli, Martina Biagioni, Michele Dei Cas, Rita Clara Paroni, Riccardo Ghidoni, Enrica Strettoi, Claudia Gargini
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Nutrition & Dietetics
Ilaria Piano, Mattia Di Paolo, Francesca Corsi, Eugenia Piragine, Silvia Bisti, Claudia Gargini, Stefano Di Marco
Summary: Research has shown that retinal diseases can be caused by a variety of factors, with treatments still needing improvement, especially in the case of gene therapy. Current studies are mostly focused on animal models, with challenges in progressing to human clinical trials. By studying the treatment outcomes in different animal models, the effectiveness of each therapy can be better evaluated.
Article
Biochemistry & Molecular Biology
Carmelo Puglia, Debora Santonocito, Giuseppe Romeo, Sebastiano Intagliata, Giovanni Luca Romano, Enrica Strettoi, Elena Novelli, Carmine Ostacolo, Pietro Campiglia, Eduardo Maria Sommella, Rosario Pignatello, Claudio Bucolo
Summary: Lipid-based nanocarriers have been developed to improve the bioavailability of ophthalmic drugs, with a novel formulation LN-ODAF showing promising potential in diffusing through different ocular compartments and reaching the back of the eye.
Article
Multidisciplinary Sciences
Irem Kilicarslan, Lucia Zanetti, Elena Novelli, Christoph Schwarzer, Enrica Strettoi, Alexandra Koschak
Summary: Cav1.3 channels play a role in the degeneration of photoreceptors in rd10 retinas, with their absence delaying the central-to-peripheral degeneration process and potentially achieving temporary rescue of photoreceptors indirectly through other retinal cell layers.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Ignazio G. Vetrano, Michele Dei Cas, Vittoria Nazzi, Marica Eoli, Niccolo Innocenti, Veronica Saletti, Antonella Potenza, Tatiana Carrozzini, Giuliana Pollaci, Gemma Gorla, Rita Paroni, Riccardo Ghidoni, Laura Gatti
Summary: Different subtypes of peripheral nerve sheath tumors show specific modulation in lipid profile, suggesting a potential association between lipid imbalance and disease progression and invasiveness. This finding contributes to a better understanding of the molecular features and pathogenesis of peripheral nerve sheath tumors.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Enrica Strettoi, Beatrice Di Marco, Noemi Orsini, Debora Napoli
Summary: This article reviews the plasticity of the retina, finding that it has limited plasticity outside the developmental stage. In contrast, the retina is highly adept at maintaining a stable structure and functional organization. The article also discusses the variable rate of structural plasticity in retinal neurons in different circumstances.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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
Lorenzo Chiaverini, Damiano Cirri, Iogann Tolbatov, Francesca Corsi, Ilaria Piano, Alessandro Marrone, Alessandro Pratesi, Tiziano Marzo, Diego La Mendola
Summary: Ammonium trichloro (dioxoethylene-O,O ') tellurate (AS101) is a potential therapeutic prodrug with immunomodulatory properties. This study investigates the activation process of AS101 and its analogues in the presence of water. The results demonstrate that water triggers the conversion of AS101 to the pharmacologically active species, and the effect is influenced by the halogens present. The study provides valuable insights into the chemical and mechanistic implications of AS101 activation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Francesca Corsi, Emma Baglini, Elisabetta Barresi, Silvia Salerno, Chiara Cerri, Claudia Martini, Federico Da Settimo Passetti, Sabrina Taliani, Claudia Gargini, Ilaria Piano
Summary: TSPO plays an important role in neuropathologies and brain injury. The study found that by inhibiting inflammatory and apoptotic processes, as well as reducing LPS-induced cellular cytotoxicity, targeting TSPO has potential for therapeutic treatment of inflammatory-based retinal neurodegeneration.
ACS CHEMICAL NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Mattia Di Paolo, Francesca Corsi, Maria Maggi, Luca Nardi, Silvia Bisti, Ilaria Piano, Claudia Gargini
Summary: Saffron treatment for retinal diseases depends on its molecular composition. Hydroponic cultivation can reduce costs and make this treatment more accessible.
Article
Biochemistry & Molecular Biology
Felicia D'Andrea, Stefania Sartini, Ilaria Piano, Matteo Franceschi, Luca Quattrini, Lorenzo Guazzelli, Lidia Ciccone, Elisabetta Orlandini, Claudia Gargini, Concettina La Motta, Susanna Nencetti
JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY
(2020)