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Full-Text Articles in Ophthalmology
Mutations In Arl2bp, A Protein Required For Ciliary Microtubule Structure, Cause Syndromic Male Infertility In Humans And Mice, Abigal R. Moye, Nicola Bedoni, Jessica G. Cunningham, Urikhan Sanzhaeva, Eric S. Tucker, Peter Mathers, Virginie G. Peter, Mathieu Quinodoz, Liliana P. Paris, Luisa Coutinho-Santos, Pedro Camacho, Madeleine G. Purcell, Abbie C. Winkelmann, James A. Foster, Elena N. Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy
Mutations In Arl2bp, A Protein Required For Ciliary Microtubule Structure, Cause Syndromic Male Infertility In Humans And Mice, Abigal R. Moye, Nicola Bedoni, Jessica G. Cunningham, Urikhan Sanzhaeva, Eric S. Tucker, Peter Mathers, Virginie G. Peter, Mathieu Quinodoz, Liliana P. Paris, Luisa Coutinho-Santos, Pedro Camacho, Madeleine G. Purcell, Abbie C. Winkelmann, James A. Foster, Elena N. Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy
Faculty & Staff Scholarship
Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies. Many strides have been made towards deciphering the molecular causes for these diseases, which have in turn expanded the understanding of cilia and their functional roles. One recently-identified ciliary gene is ARL2BP, encoding the ADP-Ribosylation Factor Like 2 Binding Protein. In this study, we have identified multiple ciliopathy phenotypes associated with mutations in ARL2BP in human patients and in a mouse knockout model. Our research demonstrates that spermiogenesis …
Human Macular Müller Cells Rely More On Serine Biosynthesis To Combat Oxidative Stress Than Those From The Periphery, Ting Zhang, Ling Zhu, Michele C. Madigan, Wei Liu, Weiyong Shen, Svetlana Cherepanoff, Fanfan Zhou, Shaoxue Zeng, Jianhai Du, Mark C. Gillies
Human Macular Müller Cells Rely More On Serine Biosynthesis To Combat Oxidative Stress Than Those From The Periphery, Ting Zhang, Ling Zhu, Michele C. Madigan, Wei Liu, Weiyong Shen, Svetlana Cherepanoff, Fanfan Zhou, Shaoxue Zeng, Jianhai Du, Mark C. Gillies
Faculty & Staff Scholarship
Abstract The human macula is more susceptible than the peripheral retina to developing blinding conditions such as age-related macular degeneration, diabetic retinopathy. A key difference between them may be the nature of their Mu¨ ller cells. We found primary cultured Mu¨ ller cells from macula and peripheral retina display significant morphological and transcriptomic differences. Macular Mu¨ ller cells expressed more phosphoglycerate dehydrogenase (PHGDH, a rate-limiting enzyme in serine synthesis) than peripheral Mu¨ ller cells. The serine synthesis, glycolytic and mitochondrial function were more activated in macular than peripheral Mu¨ ller cells. Serine biosynthesis is critical in defending against oxidative stress. …
Metabolic Deregulation Of The Blood-Outer Retinal Barrier In Retinitis Pigmentosa, Wei Wang, Ashwini Kini, Yekai Wang, Tingting Liu, Yao Chen, Eric Vukmanic, Douglas Emery, Yongqing Liu, Xiaoqin Lu, Lei Jin, San Joon Lee, Patrick Scott, Xiao Liu, Kevin Dean, Qingxian Lu, Enzo Fortuny, Robert James, Henry J. Kaplan, Jianhai Du, Douglas C. Dean
Metabolic Deregulation Of The Blood-Outer Retinal Barrier In Retinitis Pigmentosa, Wei Wang, Ashwini Kini, Yekai Wang, Tingting Liu, Yao Chen, Eric Vukmanic, Douglas Emery, Yongqing Liu, Xiaoqin Lu, Lei Jin, San Joon Lee, Patrick Scott, Xiao Liu, Kevin Dean, Qingxian Lu, Enzo Fortuny, Robert James, Henry J. Kaplan, Jianhai Du, Douglas C. Dean
Faculty & Staff Scholarship
Retinitis pigmentosa (RP) initiates with diminished rod photoreceptor function, causing peripheral and nighttime vision loss. However, subsequent loss of cone function and high-resolution daylight and color vision is most debilitating. Visual pigment-rich photoreceptor outer segments (OS) undergo phagocytosis by the retinal pigment epithelium (RPE), and the RPE also acts as a blood-outer retinal barrier transporting nutrients, including glucose, to photoreceptors. We provide evidence that contact between externalized phosphatidylserine (PS) on OS tips and apical RPE receptors activates Akt, linking phagocytosis with glucose transport to photoreceptors for new OS synthesis. As abundant mutant rod OS tips shorten in RP, Akt activation …