Search Results - "TAM, Beatrice M"
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An interaction network between the SNARE VAMP7 and Rab GTPases within a ciliary membrane-targeting complex
Published in Journal of cell science (10-12-2018)“…The Arf4-rhodopsin complex (mediated by the VxPx motif in rhodopsin) initiates expansion of vertebrate rod photoreceptor cilia-derived light-sensing organelles…”
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Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4
Published in The EMBO journal (04-02-2009)“…Dysfunctions of primary cilia and cilia‐derived sensory organelles underlie a multitude of human disorders, including retinal degeneration, yet membrane…”
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The Role of Rhodopsin Glycosylation in Protein Folding, Trafficking, and Light-Sensitive Retinal Degeneration
Published in The Journal of neuroscience (02-12-2009)“…Several mutations in the N terminus of the G-protein-coupled receptor rhodopsin disrupt NXS/T consensus sequences for N-linked glycosylation (located at N2 and…”
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Kinesin family 17 (osmotic avoidance abnormal‐3) is dispensable for photoreceptor morphology and function
Published in The FASEB journal (01-12-2015)“…ABSTRACT In Caenorhabditis elegans, homodimeric [kinesin family (KIF) 17, osmotic avoidance abnormal‐3 (OSM‐3)] and heterotrimeric (KIF3) kinesin‐2 motors are…”
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Modeling Dominant and Recessive Forms of Retinitis Pigmentosa by Editing Three Rhodopsin-Encoding Genes in Xenopus Laevis Using Crispr/Cas9
Published in Scientific reports (31-07-2017)“…The utility of Xenopus laevis , a common research subject for developmental biology, retinal physiology, cell biology, and other investigations, has been…”
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Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia
Published in Molecular therapy. Methods & clinical development (12-06-2020)“…Aniridia is a rare eye disorder, which is caused by mutations in the paired box 6 (PAX6) gene and results in vision loss due to the lack of a long-term…”
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Synchronized Photoactivation of T4K Rhodopsin Causes a Chromophore-Dependent Retinal Degeneration That Is Moderated by Interaction with Phototransduction Cascade Components
Published in The Journal of neuroscience (04-09-2024)“…Multiple mutations in the gene cause sector retinitis pigmentosa in humans and a corresponding light-exacerbated retinal degeneration (RD) in animal models…”
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Identification of an Outer Segment Targeting Signal in the COOH Terminus of Rhodopsin Using Transgenic Xenopus laevis
Published in The Journal of cell biology (25-12-2000)“…Mislocalization of the photopigment rhodopsin may be involved in the pathology of certain inherited retinal degenerative diseases. Here, we have elucidated…”
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Identification and cellular localization in Xenopus laevis photoreceptors of three Peripherin-2 family members, Prph2, Rom1 and Gp2l, which arose from gene duplication events in the common ancestors of jawed vertebrates
Published in Experimental eye research (01-02-2024)“…Rod and cone photoreceptors are named for the distinct morphologies of their outer segment organelles, which are either cylindrical or conical, respectively…”
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Electrophysiological Changes During Early Steps of Retinitis Pigmentosa
Published in Investigative ophthalmology & visual science (01-03-2019)“…The rhodopsin mutation P23H is responsible for a significant portion of autosomal-dominant retinitis pigmentosa, a disorder characterized by rod photoreceptor…”
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The role of subunit assembly in peripherin-2 targeting to rod photoreceptor disk membranes and retinitis pigmentosa
Published in Molecular biology of the cell (01-08-2003)“…Peripherin-2 is a member of the tetraspanin family of membrane proteins that plays a critical role in photoreceptor outer segment disk morphogenesis. Mutations…”
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Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa
Published in The Journal of neuroscience (01-10-2014)“…Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene…”
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Dark Rearing Rescues P23H Rhodopsin-Induced Retinal Degeneration in a Transgenic Xenopus laevis Model of Retinitis Pigmentosa: A Chromophore-Dependent Mechanism Characterized by Production of N-Terminally Truncated Mutant Rhodopsin
Published in The Journal of neuroscience (22-08-2007)“…To elucidate the molecular mechanisms underlying the light-sensitive retinal degeneration caused by the rhodopsin mutation P23H, which causes retinitis…”
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Generation and Analysis of Xenopus laevis Models of Retinal Degeneration Using CRISPR/Cas9
Published in Methods in molecular biology (Clifton, N.J.) (2019)“…Xenopus laevis have proven to be a useful system for rapid generation and analysis of transgenic models of human retinal disease. However, experimental…”
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Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa
Published in The Journal of neuroscience (25-01-2017)“…Retinitis pigmentosa (RP) is an inherited retinal degeneration (RD) that leads to blindness for which no treatment is available. RP is frequently caused by…”
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Characterization of Rhodopsin P23H-Induced Retinal Degeneration in a Xenopus laevis Model of Retinitis Pigmentosa
Published in Investigative ophthalmology & visual science (01-08-2006)“…To investigate the pathogenic mechanisms that underlie retinal degeneration induced by the rhodopsin mutation P23H in a Xenopus laevis model of RP. Transgenic…”
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Dual Role of Lys206−Lys296 Interaction in Human Transferrin N-Lobe: Iron-Release Trigger and Anion-Binding Site
Published in Biochemistry (Easton) (27-07-1999)“…The unique structural feature of the dilysine (Lys206−Lys296) pair in the transferrin N-lobe (hTF/2N) has been postulated to serve a special function in the…”
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Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks
Published in Investigative ophthalmology & visual science (15-05-2014)“…Autosomal dominant Stargardt macular dystrophy caused by mutations in the Elongation of Very Long Chain fatty acids (ELOVL4) gene results in macular…”
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Targeting of mouse guanylate cyclase 1 ( Gucy2e) to Xenopus laevis rod outer segments
Published in Vision research (Oxford) (01-11-2011)“…► GFP fused to the entire cytoplasmic region of GC1 targets to rod outer segments. ► This fusion localizes specifically to outer segment disk rims. ► Smaller…”
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Preparation of Xenopus laevis retinal cryosections for electron microscopy
Published in Experimental eye research (01-07-2015)“…Transmission electron microscopy is the gold standard for examination of photoreceptor outer segment morphology and photoreceptor outer segment abnormalities…”
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