Retinal Degenerative Diseases. Mechanisms and Experimental Therapy

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Editors: John D. Ash, Christian Grimm, Joe G. Hollyfield, Robert E. Anderson, Matthew M. LaVail, Catherine Bowes Rickman. — Springer Science+Business Media, LLC 2014. — 841 p. — ISBN 978-1-4614-3208-1.The International Symposia on Retinal Degeneration have been held in conjunction with the biennial International Congress of Eye Research (ICER) since 1984. These RD Symposia have been highly successful and have become one of the most well attended meetings in the field. The RD Symposia are successful because they allow basic and clinician scientists from around the world to convene and present their new research findings in a format that allows sufficient time for discussions and one-on-one interactions in a relaxed atmosphere, where international friendships and collaborations can be fostered.PrefaceTravel AwardsContributorsAbout the EditorsBasic Processes: Development, Physiology and FunctionEvgenya Y. Popova, Colin J. Barnstable and Samuel Shao-Min Zhang Cell Type-Specific Epigenetic Signatures Accompany Late Stages of Mouse Retina DevelopmentBarbara M. Braunger, Cora Demmer and Ernst R. Tamm Programmed Cell Death During Retinal Development of the Mouse EyeXiaowu Gu, Alaina Reagan, Allen Yen, Faizah Bhatti, Alex W. Cohen and Michael H. Elliott Spatial and Temporal Localization of Caveolin-1 Protein in the Developing RetinaWen-Hsiang Lee, Pratibha Joshi and Rong Wen Glutathione S-Transferase Pi Isoform (GSTP1) Expression in Murine Retina Increases with Developmental MaturityAlexander Aslanidis, Marcus Karlstetter, Yana Walczak, Herbert Jägle and Thomas Langmann RETINA-Specific Expression of Kcnv2 Is Controlled by Cone-Rod Homeobox (Crx) and Neural Retina Leucine Zipper (Nrl)Saravanan Kolandaivelu and Visvanathan Ramamurthy AIPL1 Protein and its Indispensable Role in Cone Photoreceptor Function and SurvivalCheryl M. Craft, Jing Huang, Daniel E. Possin and Anita Hendrickson Primate Short-Wavelength Cones Share Molecular Markers with RodsXi-Qin Ding, Alexander Matveev, Anil Singh, Naoka Komori and Hiroyuki Matsumoto Exploration of Cone Cyclic Nucleotide-Gated Channel-Interacting Proteins Using Affinity Purification and Mass SpectrometryMichael W. Stuck, Shannon M. Conley, Ryan A. Shaw, Roman Wolf and Muna I. Naash Electrophysiological Characterization of Rod and Cone Responses in the Baboon Nonhuman Primate ModelBasic Processes: RPEEmeline F. Nandrot Animal Models, in “The Quest to Decipher RPE Phagocytosis”Julian Esteve-Rudd, Vanda S. Lopes, Mei Jiang and David S. Williams In Vivo and in Vitro Monitoring of Phagosome Maturation in Retinal Pigment Epithelium CellsLinda Ruggiero and Silvia C. Finnemann Lack of Effect of Microfilament or Microtubule Cytoskeleton-Disrupting Agents on Restriction of Externalized Phosphatidylserine to Rod Photoreceptor Outer Segment TipsLisa Shine, Claire Kilty, Jeffrey Gross and Breandan Kennedy Vacuolar ATPases and Their Role in VisionSonia Guha, Ji Liu, Gabe Baltazar, Alan M. Laties and Claire H. Mitchell Rescue of Compromised Lysosomes Enhances Degradation of Photoreceptor Outer Segments and Reduces Lipofuscin-Like Autofluorescence in Retinal Pigmented Epithelial CellsOlaf Strauß, Claudia Müller, Nadine Reichhart, Ernst R. Tamm and Nestor Mas Gomez The Role of Bestrophin-1 in Intracellular Ca2+ SignalingBasic Processes: MethodologyStephen P. Daiger, Sara J. Bowne, Lori S. Sullivan, Susan H. Blanton, George M. Weinstock, Daniel C. Koboldt, Robert S. Fulton, David Larsen, Peter Humphries, Marian M. Humphries, Eric A. Pierce, Rui Chen and Yumei Li Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)Sarwar Zahid, Crandall Peeler, Naheed Khan, Joy Davis, Mahdi Mahmood, John R. Heckenlively and Thiran Jayasundera Digital Quantification of Goldmann Visual Fields (GVFs) as a Means for Genotype–Phenotype Comparisons and Detection of Progression in Retinal DegenerationsShuqian Dong, Yan Liu, Meili Zhu, Xueliang Xu and Yun-Zheng Le Simplified System to Investigate Alteration of Retinal Neurons in DiabetesC. Sippl and E. R. Tamm What Is the Nature of the RGC-5 Cell Line?Genetics in Retinal DiseaseKarl J. Wahlin, Julien Maruotti and Donald J. Zack Modeling Retinal Dystrophies Using Patient-Derived Induced Pluripotent Stem CellsByron L. Lam, Stephan L. Züchner, Julia Dallman, Rong Wen, Eduardo C. Alfonso, Jeffery M. Vance and Margaret A. Peričak-Vance Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis PigmentosaDaniel F. Schorderet, Maude Bernasconi, Leila Tiab, Tatiana Favez and Pascal Escher IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies—A Price Comparison with Sanger SequencingFrida Jonsson, Marie S. Burstedt, Ola Sandgren, Anna Norberg and Irina Golovleva Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 GenesFrank Zach and Heidi Stöhr FAM161A, a Novel Centrosomal-Ciliary Protein Implicated in Autosomal Recessive Retinitis PigmentosaAMD: Novel DevelopmentsChi-Chao Chan and Daniel Ardeljan Molecular Pathology of Macrophages and Interleukin-17 in Age-Related Macular DegenerationMichelle Grunin, Shira Hagbi-Levi and Itay Chowers The Role of Monocytes and Macrophages in Age-Related Macular DegenerationMarcus Karlstetter and Thomas Langmann Microglia in the Aging RetinaJin-Dong Ding, Una Kelly, Marybeth Groelle, Joseph G. Christenbury, Wenlan Zhang and Catherine Bowes Rickman The Role of Complement Dysregulation in AMD Mouse ModelsBärbel Rohrer, Kannan Kunchithapautham, Andreas Genewsky and Olaf Strauß Prolonged Src Kinase Activation, a Mechanism to Turn Transient, Sublytic Complement Activation into a Sustained Pathological Condition in Retinal Pigment Epithelium CellsEma Ozaki, Matthew Campbell, Anna-Sophia Kiang, Marian Humphries, Sarah Doyle and Peter Humphries Inflammation in Age-Related Macular DegenerationZhenzhen Liu, Tingyu Qin, Jilin Zhou, Allen Taylor, Janet R. Sparrow and Fu Shang Impairment of the Ubiquitin-Proteasome Pathway in RPE Alters the Expression of Inflammation Related GenesChloe M. Stanton and Alan F. Wright Inflammatory Biomarkers for AMDKatayoon B. Ebrahimi, Natalia Fijalkowski, Marisol Cano and James T. Handa Oxidized Low-Density-Lipoprotein-Induced Injury in Retinal Pigment Epithelium Alters Expression of the Membrane Complement Regulatory Factors CD46 and CD59 through Exosomal and Apoptotic Bleb ReleaseAparna Lakkaraju, Kimberly A. Toops and Jin Xu Should I Stay or Should I Go? Trafficking of Sub-Lytic MAC in the Retinal Pigment EpitheliumToshihide Kurihara, Peter D. Westenskow and Martin Friedlander Hypoxia-Inducible Factor (HIF)/Vascular Endothelial Growth Factor (VEGF) Signaling in the RetinaRobert F. Mullins, Aditi Khanna, Desi P. Schoo, Budd A. Tucker, Elliott H. Sohn, Arlene V. Drack and Edwin M. Stone Is Age-Related Macular Degeneration a Microvascular Disease?Felix Grassmann, Iris M. Heid and Bernhard H. F. Weber Genetic Risk Models in Age-Related Macular DegenerationAlex Woodell and Bärbel Rohrer A Mechanistic Review of Cigarette Smoke and Age-Related Macular DegenerationMark E. Pennesi, Anupam K. Garg, Shu Feng, Keith V. Michaels, Travis B. Smith, Jonathan D. Fay, Alison R. Weiss, Laurie M. Renner, Sawan Hurst, Trevor J. McGill, Anda Cornea, Kay D. Rittenhouse, Marvin Sperling, Joachim Fruebis and Martha Neuringer Measuring Cone Density in a Japanese Macaque (Macaca fuscata) Model of Age-Related Macular Degeneration with Commercially Available Adaptive OpticsGoldis Malek Nuclear Receptors as Potential Therapeutic Targets for Age-Related Macular DegenerationPeter D. Westenskow, Toshihide Kurihara and Martin Friedlander Utilizing Stem Cell-Derived RPE Cells as A Therapeutic Intervention for Age-Related Macular DegenerationMüller Cells, Microglia, and MacrophagesMinhua Wang and Wai T. Wong Microglia-Müller Cell Interactions in the RetinaSem Genini, William A. Beltran, Veronika M. Stein and Gustavo D. Aguirre Isolation and Ex Vivo Characterization of the Immunophenotype and Function of Microglia/Macrophage Populations in Normal Dog RetinaRoswitha Seitz and Ernst R. Tamm Müller Cells and Microglia of the Mouse Eye React Throughout the Entire Retina in Response to the Procedure of an Intravitreal InjectionJoseph Fogerty and Joseph C. Besharse Subretinal Infiltration of Monocyte Derived Cells and Complement Misregulation in Mice with AMD-Like PathologyTembei K. Forkwa, Ernst R. Tamm and Andreas Ohlmann Ambiguous Role of Glucocorticoids on Survival of Retinal NeuronsAna I. Arroba, Noemí Álvarez-Lindo, Nico van Rooijen and Enrique J. de la Rosa Microglia-Müller Glia Crosstalk in the rd10 Mouse Model of Retinitis PigmentosaStefanie M. Hauck, Christine von Toerne and Marius Ueffing The Neuroprotective Potential of Retinal Müller Glial CellsCavit Agca and Christian Grimm Leukemia Inhibitory Factor Signaling in Degenerating RetinasHong Hao, Janina Gregorski, Haohua Qian, Yichao Li, Chun Y Gao, Sana Idrees and Bin Zhang In Vivo Function of the ER-Golgi Transport Protein LMAN1 in Photoreceptor HomeostasisSuhua Fu, Meili Zhu, John D. Ash, Yunchang Wang and Yun-Zheng Le Investigating the Role of Retinal Müller Cells with Approaches in Genetics and Cell BiologyDegenerative Processes: Immune-Related Mechanisms, Genes and FactorsMatthew Campbell, Sarah L. Doyle, Ema Ozaki, Paul F. Kenna, Anna-Sophia Kiang, Marian M. Humphries and Peter Humphries An Overview of the Involvement of Interleukin-18 in Degenerative RetinopathiesCharles E. Egwuagu Chronic Intraocular Inflammation and Development of Retinal Degenerative DiseaseUlrich FO Luhmann, Scott J Robbie, James WB Bainbridge and Robin R Ali The Relevance of Chemokine Signalling in Modulating Inherited and Age-Related Retinal DegenerationsGloriane Schnabolk, Stephen Tomlinson and Bärbel Rohrer The Complement Regulatory Protein CD59: Insights into Attenuation of Choroidal NeovascularizationKazuhiro Ogai, Maki Nishitani, Ayaka Kuwana, Kazuhiro Mawatari, Yoshiki Koriyama, Kayo Sugitani, Hiroshi Nakashima and Satoru Kato Regeneration-Associated Genes on Optic Nerve Regeneration in Fish RetinaS. Logan and R. E. Anderson Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4Shreyasi Choudhury, Sonali Nashine, Yogesh Bhootada, Mansi Motiwale Kunte, Oleg Gorbatyuk, Alfred S. Lewin and Marina Gorbatyuk Modulation of the Rate of Retinal Degeneration in T17M RHO Mice by Reprogramming the Unfolded Protein ResponseAyse Sahaboglu, Sylvia Bolz, Hubert Löwenheim and Francois Paquet-Durand Expression of Poly(ADP-Ribose) Glycohydrolase in Wild-Type and PARG-110 Knock-Out RetinaAnh T. H. Nguyen, Matthew Campbell, Anna-Sophia Kiang, Marian M. Humphries and Peter Humphries Current Therapeutic Strategies for P23H RHO-Linked RPRakesh Kotapati Raghupathy, Daphne L McCulloch, Saeed Akhtar, Turki M Al-Mubrad and Xinhua Shu Pathogenesis of X-linked RP3: Insights from Animal ModelsHoubin Zhang, Jeanne M. Frederick and Wolfgang Baehr Unc119 Gene Deletion Partially Rescues the GRK1 Transport Defect of Pde6d-/- ConesCornelia Volz, Myriam Mirza, Thomas Langmann and Herbert Jägle Retinal Function in Aging Homozygous Cln3Δex7/8 Knock-In Mice �� 495Nora Blanca Caberoy Synergistic Interaction of Tubby and Tubby-Like Protein 1 (Tulp1)Gregory H. Grossman, Craig D. Beight, Lindsey A. Ebke, Gayle J.T. Pauer and Stephanie A. Hagstrom Interaction of Tubby-Like Protein-1 (Tulp1) and Microtubule-Associated Protein (MAP) 1A and MAP1B in the Mouse RetinaTheodore G. Drivas and Jean Bennett CEP290 and the Primary CiliumNasrin Sorusch, Kirsten Wunderlich, Katharina Bauss, Kerstin Nagel-Wolfrum and Uwe Wolfrum Usher Syndrome Protein Network Functions in the Retina and their Relation to Other Retinal CiliopathiesTravis J. Bailey and David R. Hyde The Phenotype of the Good Effort Mutant Zebrafish is Retinal Degeneration by Cell Death and is Linked to the Chromosome Assembly Factor 1b GeneRong Wen, Julia E. Dallman, Yiwen Li, Stephan L. Züchner, Jeffery M. Vance, Margaret A. Peričak-Vance and Byron L. Lam Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in ZebrafishMichael McClintock, Marc C. Peden and Christine N. Kay Spectral Domain Optical Coherence Tomography Findings in CNGB3-Associated Achromatopsia and Therapeutic ImplicationsLucia Ziccardi, Camasamudram Vijayasarathy, Ronald A. Bush and Paul A. Sieving Photoreceptor Pathology in the X-Linked Retinoschisis (XLRS) Mouse Results in Delayed Rod Maturation and Impaired Light Driven Transducin TranslocationMarijana Samardzija and Christian Grimm Mouse Models for Cone DegenerationF. Paquet-Durand, A. Sahaboglu, J. Dietter, O. Paquet-Durand, B. Hitzmann, M. Ueffing and P. A. R. Ekström How Long Does a Photoreceptor Cell Take to Die? Implications for the Causative Cell Death MechanismsDegenerative Processes: RPE and Fatty AcidsHeike Kroeger, Matthew M. LaVail and Jonathan H. Lin Endoplasmic Reticulum Stress in Vertebrate Mutant Rhodopsin Models of Retinal DegenerationJanet R. Sparrow, Jilin Zhou, Shanti Kaligotla Ghosh and Zhao Liu Bisretinoid Degradation and the Ubiquitin-Proteasome SystemAnalysis of Mouse RPE Sheet Morphology GivesYi Jiang, X Qi, Micah A. Chrenek, Christopher Gardner, Nupur Dalal, Jeffrey H. Boatright, Hans E. Grossniklaus and John M. Nickerson Discriminatory CategoriesMin-Lee Chang, Chung-Jung Chiu, Fu Shang and Allen Taylor High Glucose Activates ChREBP-Mediated HIF-1α and VEGF Expression in Human RPE Cells Under NormoxiaAnnie Y. Chan, Shivani N. Mann, Hui Chen, Donald U. Stone, Daniel J. J. Carr and Nawajes A. Mandal Sphingolipids in Ocular InflammationMartin-Paul Agbaga, Sreemathi Logan, Richard S. Brush and Robert E. Anderson Biosynthesis of Very Long-Chain Polyunsaturated Fatty Acids in Hepatocytes Expressing ELOVL4L. D. Marchette, D. M Sherry, R. S Brush, M. Chan, Y. Wen, J. Wang, John D. Ash, R. E. Anderson and N. A. Mandal Very Long Chain Polyunsaturated Fatty Acids and Rod Cell Structure and FunctionDegenerative Processes: Immune-Related Mechanisms, Genes and FactorsVera L. Bonilha, Mary E. Rayborn, Xiaoping Yang, Chengsong Xie and Huaibin Cai Oxidative Stress Regulation by DJ-1 in the Retinal Pigment EpitheliumKathryn E. Klump and James F. McGinnis The Role of Reactive Oxygen Species in Ocular MalignancyWei-Chieh Jerry Chiang and Jonathan H. Lin The Effects of IRE1, ATF6, and PERK Signaling on adRPLinked RhodopsinsJonathan Chou, Stuart Rollins and Amani A Fawzi Role of Endothelial Cell and Pericyte Dysfunction in Diabetic Retinopathy: Review of Techniques in Rodent ModelsNathalie Produit-Zengaffinen, Constantin J. Pournaras and Daniel F. Schorderet Autophagy Induction Does Not Protect Retina Against Apoptosis in Ischemia/Reperfusion ModelTherapy: Gene TherapyTimothy P. Day, Leah C. Byrne, David V. Schaffer and John G. Flannery Advances in AAV Vector Development for Gene Therapy in the RetinaFrank M. Dyka, Sanford L. Boye, Renee C. Ryals, Vince A. Chiodo, Shannon E. Boye and William W. Hauswirth Cone Specific Promoter for Use in Gene Therapy of Retinal Degenerative DiseasesAdarsha Koirala, Shannon M Conley and Muna I. Naash Episomal Maintenance of S/MAR-Containing Non-Viral Vectors for RPE-Based DiseasesAstra Dinculescu, Seok-Hong Min, Wen-Tao Deng, Qiuhong Li and William W. Hauswirth Gene Therapy in the Rd6 Mouse Model of Retinal DegenerationZongchao Han, Shannon M. Conley and Muna I. Naash Gene Therapy for Stargardt Disease Associated with ABCA4 GeneVanda S. Lopes, Tanja Diemer and David S. Williams Assessment of Different Virus-Mediated Approaches for Retinal Gene Therapy of Usher 1BStylianos Michalakis, Susanne Koch, Vithiyanjali Sothilingam, Marina Garcia Garrido, Naoyuki Tanimoto, Elisabeth Schulze, Elvir Becirovic, Fred Koch, Christina Seide, Susanne C. Beck, Mathias W. Seeliger, Regine Mühlfriedel and Martin Biel Gene Therapy Restores Vision and Delays Degeneration inthe CNGB1−/− Mouse Model of Retinitis PigmentosaKerstin Nagel-Wolfrum, Timor Baasov and Uwe Wolfrum Therapy Strategies for Usher Syndrome Type 1C in the RetinaTherapy: ProtectionYoshiki Koriyama, Marie Kamiya, Kunizo Arai, Kayo Sugitani, Kazuhiro Ogai and Satoru Kato Nipradilol Promotes Axon Regeneration Through S-Nitrosylation of PTEN in Retinal Ganglion Cells Reciprocal Changes in Factor XIII and Retinal Transglutaminase Kayo Sugitani, Kazuhiro Ogai, Yoshiki Koriyama and Satoru Kato Expressions in the Fish Retina During Optic Nerve RegenerationP. Michael Iuvone, Jeffrey H. Boatright, Gianluca Tosini and Keqiang Ye N-Acetylserotonin: Circadian Activation of the BDNF Receptor and Neuroprotection in the Retina and BrainJohn A. Fuller, Gillian C. Shaw, Delphine Bonnet-Wersinger, Baranda S. Hansen, Cynthia A. Berlinicke, James Inglese and Donald J. Zack A High Content Screening Approach to Identify Molecules Neuroprotective for Photoreceptor CellsAnna-Sophia Kiang, Marian M. Humphries, Matthew Campbell and Peter Humphries Antioxidant Therapy for Retinal DiseaseYingbin Fu and Tao Zhang Pathophysilogical Mechanism and Treatment Strategies for Leber Congenital AmaurosisAlison L. Reynolds, David Kent and Breandán N. Kennedy Current and Emerging Therapies for Ocular NeovascularisationTemitope Sasore, Alison L. Reynolds and Breandán N. Kennedy Targeting the PI3K/Akt/mTOR Pathway in Ocular NeovascularizationMatthew Rapp, Grace Woo, Muayyad R. Al-Ubaidi, S. Patricia Becerra and Preeti Subramanian Pigment Epithelium-Derived Factor Protects Cone Photoreceptor-Derived 661W Cells from Light Damage Through Akt ActivationLily L. Wong and James F. McGinnis Nanoceria as Bona Fide Catalytic Antioxidants in Medicine: What We Know and What We Want to Know…Xue Cai, Junji Yodoi, Sudipta Seal and James F. McGinnis Nanoceria and Thioredoxin Regulate a Common Antioxidative Gene Network in tubby MiceToshiaki Abe, Yumi Tokita-Ishikawa, Hideyuki Onami, Yuki Katsukura, Hirokazu Kaji, Matsuhiko Nishizawa and Nobuhiro Nagai Intrascleral Transplantation of a Collagen Sheet with Cultured Brain-Derived Neurotrophic Factor Expressing Cells Partially Rescues the Retina from Damage due to Acute High Intraocular PressureMachelle T. Pardue, Vincent T. Ciavatta and John R. Hetling Neuroprotective Effects of Low Level Electrical Stimulation Therapy on Retinal DegenerationIndex