Article
Genetics & Heredity
Akio Oishi, Kaoru Fujinami, Go Mawatari, Nobuhisa Naoi, Yasuhiro Ikeda, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Hiroyuki Kondo, Atsushi Mizota, Kei Shinoda, Sentaro Kusuhara, Makoto Nakamura, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda
Summary: This study reported 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy and identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort, showcasing different phenotypes and ages of onset.
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.
Review
Biochemistry & Molecular Biology
Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang
Summary: Variants in PRPH2 were analyzed in this study using online prediction tools and large datasets. Ten pathogenic or likely pathogenic variants were identified in 14 families, with p.G305Afs*19 being the most frequent variant. The study proposed novel insights into the genotype-phenotype correlation of PRPH2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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
Biochemistry & Molecular Biology
Larissa Ikelle, Mustafa Makia, Tylor Lewis, Ryan Crane, Mashal Kakakhel, Shannon M. Conley, James R. Birtley, Vadim Y. Arshavsky, Muayyad R. Al-Ubaidi, Muna I. Naash
Summary: Mutations in the PRPH2 gene can lead to retinal degeneration. Contrary to previous understanding, new research reveals that these mutations affect PRPH2 function by interfering with oligomerization, resulting in highly affected rod cells and less affected cone cells. This finding is important for the development of therapeutic approaches for PRPH2-associated diseases.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Yujie Dong, Jie Yan, Ming Yang, Wenrong Xu, Zhulin Hu, Francois Paquet-Durand, Kangwei Jiao
Summary: Inherited retinal degeneration (IRD) is a group of blinding diseases caused by gene mutations. Excessive activation of HDAC, PARP, and calpain is linked to photoreceptor loss in IRD. Inhibition of HDAC, PARP, or calpain has shown promise in preventing photoreceptor cell death, but their relationship is still unclear. In this study, organotypic retinal explant cultures from wild-type and rd1 mice were treated with specific inhibitors for HDAC, PARP, and calpain. The results showed that inhibition of HDAC, PARP, or calpain reduced rd1 mouse photoreceptor degeneration, with HDAC inhibitor Vorinostat being the most effective. HDAC inhibition reduced PARP activity but both HDAC and PARP inhibition were needed to reduce calpain activity. Unexpectedly, combined treatment with inhibitors for PARP and calpain or HDAC and calpain did not produce synergistic photoreceptor rescue. These findings suggest that in rd1 photoreceptors, HDAC, PARP, and calpain are part of the same degenerative pathway, activated in a sequence starting with HDAC and ending with calpain.
Article
Cell Biology
Mingyu Pan, Yue Yin, Xinxia Wang, Quanyi Wang, Lele Zhang, Haiyang Hu, Chen Wang
Summary: UXT plays a vital role in preventing retinal degeneration and may be a crucial target for retinal degenerative diseases. Loss of UXT leads to hyper-autophagy and massive retinal degeneration.
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
Xiaoqiang Xiao, Fangyi Ling, Chong-Bo Chen, Jiajian Liang, Yingjie Cao, Yanxuan Xu, Haoyu Chen
Summary: This study aims to investigate the co-expression and interaction of PRPF31 and PRPH2. Through transfection and immunological experiments, it was found that they co-localize and interact in cells and mouse retina.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Ophthalmology
Yang Liu, Xin Wang, Ruowen Gong, Gezhi Xu, Min Zhu
Summary: Overexpression of WT RHO and its mutants leads to energy failure and cell death, with distinct impacts on the two energy metabolic pathways.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Yu Liu, Jaclyn M. Rittershaus, Miao Yu, Rachel Sager, Huaiyu Hu
Summary: Mutations in the POMT2 gene result in loss of matriglycan and impaired binding of EYS protein, leading to incorrect localization of opsins and degeneration of cone photoreceptors in the retina.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A. Fishman, Stephen H. Tsang, Santa J. Tumminia, Brian P. Brooks, Robert B. Hufnagel, Rui Chen, Rando Allikmets
Summary: Variants in the ABCA4 locus cause phenotypic heterogeneity, and some of the complexity is likely explained by trans-modifiers in unlinked loci. This study identified significant enrichment of variants in the ROM1 and PRPH2 genes in patients with ABCA4 disease. The associations were replicated in an independent cohort, indicating the importance of rare and common variants in these two unlinked loci in modulating the penetrance of ABCA4 disease.
Review
Pharmacology & Pharmacy
Kevin Y. Y. Wu, Merve Kulbay, Dana Toameh, An Qi Xu, Ananda Kalevar, Simon D. D. Tran
Summary: Retinitis pigmentosa (RP) is a hereditary disease characterized by progressive degeneration of retinal photoreceptors leading to visual decline. It has a high burden on patients and society, with no curative treatment available. There is an urgent need for new individualized therapies, and recent fundamental research has shown promising progress.
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
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
Engineering, Biomedical
Juho Pokki, Olgac Ergeneman, Semih Sevim, Volker Enzmann, Hamdi Torun, Bradley J. Nelson
BIOMEDICAL MICRODEVICES
(2015)
Article
Oncology
Isai Mathivanan, Carolyn Trepp, Claudio Brunold, Gabriela Baerlocher, Volker Enzmann
EXPERIMENTAL CELL RESEARCH
(2015)
Article
Ophthalmology
Miriam Reisenhofer, Jasmin Balmer, Rahel Zulliger, Volker Enzmann
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2015)
Article
Biochemistry & Molecular Biology
Jasmin Balmer, Rahel Zulliger, Stefano Roberti, Volker Enzmann
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2015)
Article
Ophthalmology
Chantal Dysli, Volker Enzmann, Raphael Sznitman, Martin S. Zinkernagel
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
(2015)
Article
Ophthalmology
Chantal Dysli, Muriel Dysli, Martin S. Zinkernagel, Volker Enzmann
EXPERIMENTAL EYE RESEARCH
(2016)
Article
Cell & Tissue Engineering
Volker Enzmann, Stephanie Lecaude, Anna Kruschinski, Axel Vater
STEM CELL REVIEWS AND REPORTS
(2017)
Article
Cell & Tissue Engineering
Volker Enzmann, Stephanie Lecaude, Anna Kruschinski, Axel Vater
STEM CELL REVIEWS AND REPORTS
(2017)
Article
Ophthalmology
Lorenzo Parisi, Reto Fuhrer, Martin Zinkernagel, Volker Enzmann
Article
Neurosciences
Federica Maria Conedera, Ana Maria Quintela Pousa, Nadia Mercader, Markus Tschopp, Volker Enzmann
Article
Physiology
Jan Eckhardt, Christoph Bachmann, Marijana Sekukc-Jablanovic, Volker Enzmann, Ki Ho Park, Jianjie Ma, Hiroshi Takeshima, Francesco Zorzato, Susan Treves
JOURNAL OF GENERAL PHYSIOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Carolyn Trepp, Ana Maria Quintela Pousa, Volker Enzmann
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2019)
Article
Cell Biology
Federica Maria Conedera, Ana Maria Quintela Pousa, David Mikal Presby, Nadia Mercader, Volker Enzmann, Markus Tschopp
Summary: TGF beta isoforms play different roles in retinal regeneration in zebrafish and scar formation in mice. TGF beta 3 promotes retinal regeneration via the canonical pathway in zebrafish, while TGF beta 1 and TGF beta 2 evoke the non-canonical p38MAPK signaling pathway in mice leading to retinal gliosis.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2021)
Article
Neurosciences
Nadine Hollbach, Christoph Tappeiner, Anna Jazwinska, Volker Enzmann, Markus Tschopp
FRONTIERS IN SYSTEMS NEUROSCIENCE
(2015)
Proceedings Paper
Cell & Tissue Engineering
Patrick Steiner, Volker Enzmann, Sebastian Wolf, Anke Bossen, Christoph Meier, Raphael Sznitman
OPTICAL INTERACTIONS WITH TISSUE AND CELLS XXVI
(2015)