Description

Book Synopsis

Part I: Age-Related Macular Degeneration (AMD).- Associations of the adaptive immune system and age-related macular degeneration.- Macrophages and and age-related macular degeneration.- RPE basal lamina biology and pathophysiology related to age-related macular degeneration.- Genotype-Phenotype Correlations and Genetic Risk Assessment in Age-Related Macular Degeneration.- Photoreceptor degeneration: more than a bystander in age-related macular degeneration.- Cellular Senescencean emerging player in the pathogenesis of AMD.- Part II - Inherited Retinal Degenerations.- Novel Potentially Pathogenic Variants in TBC1D32 cause Non-syndromic Rod-Cone Degeneration.- The BXD32 Mouse: A High-Fidelity Model of Chronic Retinal Inflammation and Photoreceptor Degeneration.- The challenge of VUS in inherited retinal degeneration: insight from functional studies.- ABCA4 c.5461-6T>C causes Stargardt disease through exon skipping.- Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.- Exploring the Role of ABCA4's ECD2 Domain in Inherited Retinal Degeneration: Computational and Functional Perspectives.- MFRP in early-onset retinal degeneration: Clinical and Molecular Perspectives.- Genetic Landscape of Non-syndromic Retinitis Pigmentosa in Portugal.- Part III: Gene Therapy and Gene Editing.- Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.- CRISPR/Cas-mediated gene activation as a versatile tool for treatment of inherited retinal dystrophies.- Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation.- Megabase deletion of the human EYS locus using CRISPR/Cas9.- Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 mutation.- Precise Gene Editing Technologies In Retinal Applications.- Part IV: Immunity and Inflammation.- Current perspectives of TLR2 signalling in the retina.- Monocytes in Retinal Degeneration: Little Cells with a Big Impact.- Understanding the different microglia functional states to modulate their activity in retinal degeneration.- Progress in assessing retinal microglia using single-cell RNA sequencing.- The Role of Microglia in Glaucomatous Pathology.- Part V: In-Vivo Imaging for Structure and Function.- Non-invasive assessment of ocular structure in the elderly 13-lined ground squirrel.- Part VI: Mechanisms of Degeneration.- Potential Role of NUR77 in the Aging Retinal Pigment Epithelium and Age-Related Macular Degeneration.- Identification of unexpected pathomechanisms underlying the human Usher syndrome.- The loss of Usher II proteins in mice does not affect photoreceptor ultrastructure.- A role for SARM1 in photoreceptor cell death.- Exploring Histone Modifications in Inherited Retinal Disorders.- Effect of photobiomodulation on proliferative changes in the retina: Evidence from an in vitro model of PVR.- Part VII: Mechanisms of Degeneration - Animal Models.- Calcium binding protein 4 is fundamental for retinal structure and function.- Association between C22:5-containing lipids and RPE Pathologies in Mice with Tmem135 Overexpression.- Extracellular Matrix Gene Expression Patterns in Retinal Wound Healing: A Comparative Study between Mouse and Zebrafish Laser Injury Models.- Zebrafish as a Model for Stargardt Disease.- Fish models of ageing retinal disease.- The power of zebrafish in disease modeling and therapy discovery for inherited retinal degeneration.- Unexpected retinal abnormalities in the cone-dominant northern tree shrew.- Deletion of Pnpla2 Causes Malformation and Malperformance of Mouse Photoreceptors.- Light as a mediator of acute and chronic retina degeneration.- A Knockin Model with the mouse equivalent to the c.2299delG Mutation in usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.- Oxidative stress and energetic failure: common features and dissimilarities in 3 different mouse models of retinal pigment epithelium phagocytosis defects.- Part VIII: Mechanisms of Degeneration Metabolism.- The connection between cellular metabolism and retinal disease.- Stimulation of Thyroid Hormone Signaling Induces Stress Responses in Mouse Retina.- Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.- Part IX: Neuroprotection.- Is Caveolin-1 required for retinal neuroprotection?.- Brain-derived neurotrophic factor in retinal integrity under diabetic and hypoxic conditions.- Part X_  Photoreceptors.- Girdin is a Class I Phosphatidylinositol 3-kinase Binding Protein in the Retina.- Photoreceptor disc morphogenesis: who are the conductors of this highly metronomic process?.- Mechanism of photoreceptor outer segment tip ingestion: Evidence of trogocytosis.- The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.- Vulnerability of the Nrl-/- Cone-Dominant Retina to Endoplasmic Reticulum Stress.- Molecular components of vesicle cycling at the rod photoreceptor ribbon synapse.- Part XI: RPE.- Less is more: the RPE cell culture medium additive THT mildly impairs RPE health.- Desmosome and Hemidesmosome Disassembly in Retinal Pigmented Epithelium Intersection with the Exosome Pathway.- Signaling pathways in Retinal Pigment Epithelium (RPE) cells in response to stress conditions of Age-Related Macular Degeneration (AMD).- The Importance of Differentiated RPE Cultures to Study Cell Biological Processes.- IGFBP5 as a Novel Basolateral Secretion Marker in the Retinal Pigment Epithelium.- Role of microsomal triglyceride transfer protein (MTP) in lipid processing pathways in retinal pigment epithelium.- Immunogenic switch of RPE cells.- Mitochondrial DNA Damage in the retinal pigmented epithelium (RPE) and its role in RPE pathobiology.- Part XII: Stem Cell Models and Therapies.- Live imaging microscopy of human retina organoids: Photoreceptor pathology.- The Importance of Choriocapillaris Replacement in Therapeutic Strategies for Age-Related Macular Degeneration.- Classifying Mouse RPE Morphometric Heterogeneity Using REShAPE an AI-based Image Analysis Tool.- Dysregulation of Retinal and Photoreceptor Structural Integrity Genes in ATF6-/- Retinal Organoids.- Engineering specific human iPS reporter cell lines to generate optogenetically modified photoreceptors.- Part XIII: Retinal Cell Biology.- Phosphoinositide 3-Kinase Enhancer Protein: Insights into its Expression and Functions in Retinal Cells.- Expression of Versican in the retina and its implication in retinal disease.- The role of RPE phagocytosis in the retina metabolic ecosystem.- Ocular Localization of Complement Factor H and its Association with Diseases in the Eye.- The Role of Primary Cilia in the Eye.- Key Claudins at the Blood-Retina Barriers.- NUDC is Critical for Mitosis and Postmitotic Cell Maintenance Through its Modulation of Dynein and Actin Cytoskeletal Reorganization.- Interplay of Retinal and Choroidal Vasculatures in Ocular Health and Disease.- Genetically encoded metabolic sensors to study retina metabolism.- Riboflavin, retbindin and riboflavin transporters in the retina.- Critical Roles of SEA Domains.- Part XIV: Drug and Other Therapies.- Targeting connexins biology as therapeutic strategies against retinal diseases.- Uncovering Novel Drugs that Restore Vision Using Orthogonal Pooling in Zebrafish.- Steroid-Nitroxide Hybrid Compound Protects the Retina in a Model of CNV.- Part XV: Human Studies.- Artificial Intelligence-assisted Matching of Human Postmortem Donors to Ocular Research Projects.- Late-Onset Retinal Degeneration: clinical features and C1QTNF5/CTRP5 function.

Retinal Degenerative Diseases XX

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    A Hardback by Catherine Bowes Rickman

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      Publisher: Springer
      Publication Date: 11/03/2025
      ISBN13: 9783031765490, 978-3031765490
      ISBN10:
      Also in:
      Neurosciences

      Description

      Book Synopsis

      Part I: Age-Related Macular Degeneration (AMD).- Associations of the adaptive immune system and age-related macular degeneration.- Macrophages and and age-related macular degeneration.- RPE basal lamina biology and pathophysiology related to age-related macular degeneration.- Genotype-Phenotype Correlations and Genetic Risk Assessment in Age-Related Macular Degeneration.- Photoreceptor degeneration: more than a bystander in age-related macular degeneration.- Cellular Senescencean emerging player in the pathogenesis of AMD.- Part II - Inherited Retinal Degenerations.- Novel Potentially Pathogenic Variants in TBC1D32 cause Non-syndromic Rod-Cone Degeneration.- The BXD32 Mouse: A High-Fidelity Model of Chronic Retinal Inflammation and Photoreceptor Degeneration.- The challenge of VUS in inherited retinal degeneration: insight from functional studies.- ABCA4 c.5461-6T>C causes Stargardt disease through exon skipping.- Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.- Exploring the Role of ABCA4's ECD2 Domain in Inherited Retinal Degeneration: Computational and Functional Perspectives.- MFRP in early-onset retinal degeneration: Clinical and Molecular Perspectives.- Genetic Landscape of Non-syndromic Retinitis Pigmentosa in Portugal.- Part III: Gene Therapy and Gene Editing.- Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.- CRISPR/Cas-mediated gene activation as a versatile tool for treatment of inherited retinal dystrophies.- Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation.- Megabase deletion of the human EYS locus using CRISPR/Cas9.- Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 mutation.- Precise Gene Editing Technologies In Retinal Applications.- Part IV: Immunity and Inflammation.- Current perspectives of TLR2 signalling in the retina.- Monocytes in Retinal Degeneration: Little Cells with a Big Impact.- Understanding the different microglia functional states to modulate their activity in retinal degeneration.- Progress in assessing retinal microglia using single-cell RNA sequencing.- The Role of Microglia in Glaucomatous Pathology.- Part V: In-Vivo Imaging for Structure and Function.- Non-invasive assessment of ocular structure in the elderly 13-lined ground squirrel.- Part VI: Mechanisms of Degeneration.- Potential Role of NUR77 in the Aging Retinal Pigment Epithelium and Age-Related Macular Degeneration.- Identification of unexpected pathomechanisms underlying the human Usher syndrome.- The loss of Usher II proteins in mice does not affect photoreceptor ultrastructure.- A role for SARM1 in photoreceptor cell death.- Exploring Histone Modifications in Inherited Retinal Disorders.- Effect of photobiomodulation on proliferative changes in the retina: Evidence from an in vitro model of PVR.- Part VII: Mechanisms of Degeneration - Animal Models.- Calcium binding protein 4 is fundamental for retinal structure and function.- Association between C22:5-containing lipids and RPE Pathologies in Mice with Tmem135 Overexpression.- Extracellular Matrix Gene Expression Patterns in Retinal Wound Healing: A Comparative Study between Mouse and Zebrafish Laser Injury Models.- Zebrafish as a Model for Stargardt Disease.- Fish models of ageing retinal disease.- The power of zebrafish in disease modeling and therapy discovery for inherited retinal degeneration.- Unexpected retinal abnormalities in the cone-dominant northern tree shrew.- Deletion of Pnpla2 Causes Malformation and Malperformance of Mouse Photoreceptors.- Light as a mediator of acute and chronic retina degeneration.- A Knockin Model with the mouse equivalent to the c.2299delG Mutation in usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.- Oxidative stress and energetic failure: common features and dissimilarities in 3 different mouse models of retinal pigment epithelium phagocytosis defects.- Part VIII: Mechanisms of Degeneration Metabolism.- The connection between cellular metabolism and retinal disease.- Stimulation of Thyroid Hormone Signaling Induces Stress Responses in Mouse Retina.- Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.- Part IX: Neuroprotection.- Is Caveolin-1 required for retinal neuroprotection?.- Brain-derived neurotrophic factor in retinal integrity under diabetic and hypoxic conditions.- Part X_  Photoreceptors.- Girdin is a Class I Phosphatidylinositol 3-kinase Binding Protein in the Retina.- Photoreceptor disc morphogenesis: who are the conductors of this highly metronomic process?.- Mechanism of photoreceptor outer segment tip ingestion: Evidence of trogocytosis.- The PRPH2 D2 Loop: Biochemical Insights and Implications in Disease.- Vulnerability of the Nrl-/- Cone-Dominant Retina to Endoplasmic Reticulum Stress.- Molecular components of vesicle cycling at the rod photoreceptor ribbon synapse.- Part XI: RPE.- Less is more: the RPE cell culture medium additive THT mildly impairs RPE health.- Desmosome and Hemidesmosome Disassembly in Retinal Pigmented Epithelium Intersection with the Exosome Pathway.- Signaling pathways in Retinal Pigment Epithelium (RPE) cells in response to stress conditions of Age-Related Macular Degeneration (AMD).- The Importance of Differentiated RPE Cultures to Study Cell Biological Processes.- IGFBP5 as a Novel Basolateral Secretion Marker in the Retinal Pigment Epithelium.- Role of microsomal triglyceride transfer protein (MTP) in lipid processing pathways in retinal pigment epithelium.- Immunogenic switch of RPE cells.- Mitochondrial DNA Damage in the retinal pigmented epithelium (RPE) and its role in RPE pathobiology.- Part XII: Stem Cell Models and Therapies.- Live imaging microscopy of human retina organoids: Photoreceptor pathology.- The Importance of Choriocapillaris Replacement in Therapeutic Strategies for Age-Related Macular Degeneration.- Classifying Mouse RPE Morphometric Heterogeneity Using REShAPE an AI-based Image Analysis Tool.- Dysregulation of Retinal and Photoreceptor Structural Integrity Genes in ATF6-/- Retinal Organoids.- Engineering specific human iPS reporter cell lines to generate optogenetically modified photoreceptors.- Part XIII: Retinal Cell Biology.- Phosphoinositide 3-Kinase Enhancer Protein: Insights into its Expression and Functions in Retinal Cells.- Expression of Versican in the retina and its implication in retinal disease.- The role of RPE phagocytosis in the retina metabolic ecosystem.- Ocular Localization of Complement Factor H and its Association with Diseases in the Eye.- The Role of Primary Cilia in the Eye.- Key Claudins at the Blood-Retina Barriers.- NUDC is Critical for Mitosis and Postmitotic Cell Maintenance Through its Modulation of Dynein and Actin Cytoskeletal Reorganization.- Interplay of Retinal and Choroidal Vasculatures in Ocular Health and Disease.- Genetically encoded metabolic sensors to study retina metabolism.- Riboflavin, retbindin and riboflavin transporters in the retina.- Critical Roles of SEA Domains.- Part XIV: Drug and Other Therapies.- Targeting connexins biology as therapeutic strategies against retinal diseases.- Uncovering Novel Drugs that Restore Vision Using Orthogonal Pooling in Zebrafish.- Steroid-Nitroxide Hybrid Compound Protects the Retina in a Model of CNV.- Part XV: Human Studies.- Artificial Intelligence-assisted Matching of Human Postmortem Donors to Ocular Research Projects.- Late-Onset Retinal Degeneration: clinical features and C1QTNF5/CTRP5 function.

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