Article
Biochemistry & Molecular Biology
Shih-Fang Wu, Chih-Yao Lin, Rong-Kung Tsai, Yao-Tseng Wen, Feng-Huei Lin, Chia-Yu Chang, Ching- Shen, Shinn-Zong Lin, Horng-Jyh Harn, Tzyy-Wen Chiou, Chin-San Liu, Yan-Ting Chen, Hong-Lin Su
Summary: Research found that mitochondrial transplantation can moderately attenuate the degeneration of retinal layers in RCS rats. This result was confirmed through histological examination and OCT measurement of retina thickness. VEP analysis showed that the transmission time of electrical signals after mitochondrial transplantation was similar to the normal value. The results suggest that mitochondrial transplantation can improve the degeneration of photoreceptors in RCS rats and have potential for clinical application.
Article
Biochemistry & Molecular Biology
Yogita Kanan, Sean F. Hackett, Henry T. Hsueh, Mahmood Khan, Laura M. Ensign, Peter A. Campochiaro
Summary: Retinitis pigmentosa (RP) is a genetic disorder that causes rod photoreceptor degeneration and subsequent cone photoreceptor degeneration. Reduced oxygen consumption from the loss of rods leads to retinal hyperoxia and oxidative stress, resulting in cone cell death and degeneration. However, reducing inspired oxygen levels can reduce retinal hyperoxia, preserve cone structure and function, and decrease oxidative damage in animal models of RP.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Yang Liu, Yafang Wang, Yushu Xiao, Xiaomeng Li, Shang Ruan, Xueting Luo, Xiaoling Wan, Fenghua Wang, Xiaodong Sun
Summary: By establishing a CNGA1 knockout mouse model, researchers observed progressive retinal thinning and functional deficits as typical phenotypes for RP, along with degeneration in rods and cones, microglial activation, and oxidative stress damage. RNA-sequencing analysis indicated down-regulated synaptic transmission and phototransduction as early triggers for photoreceptor degeneration. The study contributes to understanding the mechanisms of photoreceptor death during RP progression and provides a novel model for potential therapeutic development.
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
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.
Review
Biochemistry & Molecular Biology
Davide Allegrini, Raffaele Raimondi, Alfredo Borgia, Tania Sorrentino, Giovanni Montesano, Panos Tsoutsanis, Giuseppe Cancian, Yash Verma, Francesco Paolo De Rosa, Mario R. Romano
Summary: Recent evidence suggests that curcumin may be effective in treating retinal diseases by modulating gene transcription, reducing cell apoptosis, and improving vascular function. However, its limited bioavailability has hindered its use.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Geetika Kaur, Nikhlesh K. Singh
Summary: Vision depends on the precise structure and functioning of the retina, and any stress or injury can disrupt it, leading to vision impairment, loss, and blindness. Inflammation plays a crucial role in the development of retinal disorders, such as glaucoma, macular degeneration, diabetic retinopathy, and retinitis pigmentosa. This review provides evidence on the role of inflammation in these disorders and suggests potential therapeutic targets.
NEURAL REGENERATION RESEARCH
(2023)
Review
Medicine, General & Internal
Grazyna Adamus
Summary: Inherited retinal diseases are rare disorders that lead to blindness through various mechanisms including immune responses, gene mutations, and inflammation affecting the death of retinal photoreceptor cells.
FRONTIERS IN MEDICINE
(2021)
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
Hyeonhee Roh, Yanjinsuren Otgondemberel, Jeonghyeon Eom, Daniel Kim, Maesoon Im
Summary: This study investigates the electric response features of retinal ganglion cells (RGCs) in rd8 mice with retinal degeneration caused by Crb1 mutation. The results show that different types of RGCs have different electric response features in the early stage of RP, suggesting the importance of genotype- and RGC type-dependent analyses for retinal prosthetic research.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Ophthalmology
Yuhong Chen, Jieqiong Chen, Hong Wang, Yang Yu, Wenqiu Wang, Wenjia Liu, Suqin Yu, Yuanyuan Gong, Huixun Jia, Tong Li, Xiaodong Sun
Summary: The prevalence of outer retinal tubulation (ORT) varies among different inherited retinal diseases (IRDs) phenotypes, with the highest prevalence in Bietti crystalline corneoretinal dystrophy (BCD). The presence of choroidal atrophy and inner nuclear layer (INL) cysts may be associated with an increased risk of ORT formation in patients with IRD.
Article
Ophthalmology
Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison A. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, Jose-Alain Sahel, Katarina Stingl, Christina Y. Weng
Summary: A prospective observational study was conducted on 102 patients with USH2A-related retinal degeneration over a period of two years. It was found that quantitative measures of static perimetry significantly declined during this time. The greatest changes were observed in the full field and peripheral vision, while the central vision showed the least change.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Jie Yan, Alexander Guenter, Soumyaparna Das, Regine Muehlfriedel, Stylianos Michalakis, Kangwei Jiao, Mathias W. Seeliger, Francois Paquet-Durand
Summary: Inherited retinal degenerations (IRDs) are blinding diseases characterized by progressive loss of photoreceptors. The excessive activation of calpain and poly (ADP-ribose) polymerase (PARP) is associated with the pathology of IRDs. Inhibitors of these enzymes have shown promise in preventing photoreceptor cell death. However, the relationship between calpain and PARP in IRDs is still unclear. In this study, organotypic retinal explant cultures were used to investigate the effects of calpain inhibitors, PARP inhibitors, and voltage-gated Ca2+ channel (VGCC) inhibitors on cell death in IRD mice models. The results suggest that PARP acts upstream of calpain and both enzymes are part of the same degenerative pathway in Pde6b-dependent photoreceptor degeneration. Our findings highlight the potential of targeting PARP for therapeutic interventions in IRD-type diseases.
Article
Cell & Tissue Engineering
Christina Brown, Patrina Agosta, Christina McKee, Keegan Walker, Matteo Mazzella, Ali Alamri, David Svinarich, G. Rasul Chaudhry
Summary: Our study demonstrates that transplantation of RPCs can improve vision, retinal thickness, and function in rd12 mouse model of RP by counteracting inflammation, providing protection, and promoting neurogenesis.
STEM CELL RESEARCH & THERAPY
(2022)
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
Cell Biology
Filipe R. Carvalho, Sofia M. Calado, Gabriela A. Silva, Gabriela S. Diogo, Joana Moreira da Silva, Rui L. Reis, M. Leonor Cancela, Paulo J. Gavaia
JOURNAL OF CELLULAR PHYSIOLOGY
(2019)
Article
Ophthalmology
Ilhan E. Acar, Laura Lores-Motta, Johanna M. Colijn, Magda A. Meester-Smoor, Timo Verzijden, Audrey Cougnard-Gregoire, Soufiane Ajana, Benedicte M. J. Merle, Anita de Breuk, Thomas J. Heesterbeek, Erik van den Akker, Mohamed R. Daha, Birte Claes, Daniel Pauleikhoff, Hans-Werner Hense, Cornelia M. van Duijn, Sascha Fauser, Carel B. Hoyng, Cecile Delcourt, Caroline C. W. Klaver, Tessel E. Galesloot, Anneke den Hollander
Article
Ophthalmology
Soufiane Ajana, Audrey Cougnard-Gregoire, Johanna M. Colijn, Benedicte M. J. Merle, Timo Verzijden, Paulus T. V. M. de Jong, Albert Hofman, Johannes R. Vingerling, Boris P. Hejblum, Jean-Francois Korobelnik, Magda A. Meester-Smoor, Marius Ueffing, Helene Jacqmin-Gadda, Caroline C. W. Klaver, Cecile Delcourt
Summary: The study aimed to develop a comprehensive AMD prediction model using machine learning algorithm to automatically select the most predictive risk factors. The model showed high predictive performance in two cohort studies, paving the way towards precision medicine for AMD patients in the near future.
Article
Biochemistry & Molecular Biology
Diogo B. Bitoque, Joana Morais, Ana V. Oliveira, Raquel L. Sequeira, Sofia M. Calado, Tiago M. Fortunato, Sonia Simao, Ana M. Rosa da Costa, Gabriela A. Silva
Summary: This study found that co-complexation or covalent ligation of IGFBP-3 derived NLS peptide with chitosan polyplexes can enhance the efficiency of non-viral vectors, showing a 2-fold increase in transfection efficiency.
BIOSCIENCE REPORTS
(2021)
Review
Genetics & Heredity
Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuniga, Francisco J. Diaz-Corrales, Berta de la Cerda
Summary: Mutations in the EYS gene are a major cause of autosomal recessive retinitis pigmentosa, currently lacking therapeutic options. Advances in personalized medicine and gene and cell therapies offer hope for treatment, but limited understanding of the disease mechanism and the role of EYS in the retina pose critical limitations.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Cell & Tissue Engineering
Alberto Canibano-Hernandez, Lourdes Valdes-Sanchez, Ana B. Garcia-Delgado, Beatriz Ponte-Zuniga, Francisco J. Diaz-Corrales, Berta de la Cerda
Summary: Retinal dystrophies associated with mutations in the CRB1 gene present with diverse clinical manifestations. By preparing the ESi082-A cell line from a patient with a family history of CRB1-retinal dystrophy, researchers can study the dysfunction leading to the disease. The pluripotency of the ESi082-A cell line has been characterized for the development of retinal cellular models.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Sofia M. Calado, Dina Bento, David Justino, Leonardo Mendes-Silva, Nuno Marques, Jose Braganca
Summary: LVNC is characterized by excessive trabeculation of the left ventricle. A induced pluripotent stem cell (iPSC) line was established from a LVNC patient, which did not present mutations in the genes commonly associated with the disease. The iPSC exhibited full pluripotency and differentiation potential, serving as a useful in vitro cellular model for studying LVNC at molecular, genetic and functional levels.
STEM CELL RESEARCH
(2021)
Article
Cell & Tissue Engineering
Sofia M. Calado, Dina Bento, Nuno Marques, Jose Braganca
Summary: LVNC is a heart condition characterized by abnormal trabeculations of the left ventricle. A hiPSC line derived from a LVNC patient without known mutations associated with LVNC has been successfully established, providing a useful cellular model for studying the molecular, genetic, and functional aspects of LVNC in vitro.
STEM CELL RESEARCH
(2021)
Correction
Multidisciplinary Sciences
Lorena Buono, Jorge Corbacho, Silvia Naranjo, Maria Almuedo-Castillo, Tania Moreno-Marmol, Berta de la Cerda, Estefania Sanabria-Reinoso, Rocio Polvillo, Francisco-Javier Diaz-Corrales, Ozren Bogdanovic, Paola Bovolenta, Juan-Ramon Martinez-Morales
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Lorena Buono, Jorge Corbacho, Silvia Naranjo, Maria Almuedo-Castillo, Tania Moreno-Marmol, Berta de la Cerda, Estefania Sanbria-Reinoso, Rocio Polvillo, Francisco-Javier Diaz-Corrales, Ozren Bogdanovic, Paola Bovolenta, Juan-Ramon Martinez-Morales
Summary: The formation of sight relies on the tight cooperation between neural retina and retinal-pigmented epithelium, which are derived from common progenitors through bifurcation. Transcriptome dynamics and chromatin accessibility in zebrafish reveal network redundancy and context-dependent transcription factor activity.
NATURE COMMUNICATIONS
(2021)
Article
Chemistry, Analytical
Jesus David Urbano-Gamez, Lourdes Valdes-Sanchez, Carmen Aracil, Berta de la Cerda, Francisco Perdigones, Alvaro Plaza Reyes, Francisco J. Diaz-Corrales, Isabel Relimpio Lopez, Jose Manuel Quero
Summary: Printed circuit board (PCB) technology is widely used in biomedicine to create Lab-on-PCB systems, integrating microfluidics and electronics. The study found that the solder mask of a commercial PCB showed no cytotoxic effects on retinal cultures, indicating its potential for use as a substrate for customized microelectrode arrays (MEAs). Additionally, the biocompatibility of Uniz zSG amber resin, a 3D printer material, was also evaluated.
Article
Oncology
Maria Belen Garcia-Ortega, Ernesto Aparicio, Carmen Grinan-Lison, Gema Jimenez, Elena Lopez-Ruiz, Jose Luis Palacios, Gloria Ruiz-Alcala, Cristina Alba, Antonio Martinez, Houria Boulaiz, Macarena Peran, Michael Hackenberg, Jose Braganca, Sofia M. Calado, Juan A. Marchal, Maria Angel Garcia
Summary: Malignant melanoma is aggressive and resistant due to the presence of cancer stem cells (CSCs). This study evaluated the effect of interferon-alpha (IFN-a) treatments on melanoma CSCs and explored potential biomarkers. Low doses of IFN-a reduced CSC formation, stemness properties, and tumor formation ability in mice xenotransplants. IFN-a also modulated the expression of genes, microRNAs, and metabolomics in melanoma cells and exosomes. These findings suggest further investigations of new dose and combination approaches for IFN-a in melanoma treatment.
Review
Cell Biology
Catia D. Correia, Anita Ferreira, Monica T. Fernandes, Barbara M. Silva, Filipa Esteves, Helena S. Leitao, Jose Braganca, Sofia M. Calado
Summary: Cardiovascular diseases (CVDs) are the leading cause of death, creating a significant global health and economic burden. Stem cell therapies, including adult stem cells (ASCs), embryonic stem cells (ESCs), and induced pluripotent stem cells (iPSCs), have shown promise in regenerating damaged cardiac tissue and modeling disease phenotypes. This review discusses the types and sources of stem cells used in preclinical and clinical trials for CVD treatment, the applications of pluripotent stem-cell-derived in vitro systems, and the current state of stem-cell-based clinical trials.
Review
Cell Biology
Ana Teresa Rajado, Nadia Silva, Filipa Esteves, David Brito, Alexandra Binnie, Ines M. Araujo, Clevio Nobrega, Jose Braganca, Pedro Castelo-Branco
Summary: The World Health Organization predicts a drastic increase in the number of people over 60 years old by 2050, highlighting the urgent need for strategies to promote healthy longevity. This study focuses on the role of epigenetics in extending healthspan and describes how aging affects epigenetic processes. It also discusses the positive impact of nutrition and physical exercise on the aging process from an epigenetic perspective.
Review
Oncology
Monica T. Fernandes, Sofia M. Calado, Leonardo Mendes-Silva, Jose Braganca
WORLD JOURNAL OF CLINICAL ONCOLOGY
(2020)
