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El. knyga: Retinal Degenerative Diseases XIX: Mechanisms and Experimental Therapy

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This book contains the proceedings of the XVIII International Symposium on Retinal Degeneration (RD2018). A majority of those who spoke  and presented posters at the meeting contributed to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium focused on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the best and most important meetings in the field.



The volume presents representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.

While advances in these areas of retinal degenerations were described, there will be many new topics that either are in their infancy or did not exist at the time of the last RD Symposium. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials.





The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that withsuccessful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those were reported at the RD2016 meeting and included in the current volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations is reflected in the volume. 
High Resolution Imaging Mass Spectrometry of Human Donor Eye:
Photoreceptor Cells and Basal Laminar Deposits of Age-related Macular
Degeneration.- The non-canonical role of Complement Factor H in Retinal
Pigment Epithelium (RPE) cells and implications for Age-related Macular
Degeneration.- Macular Pigment Carotenoids and Bisretinoid A2E.- Disturbed
matrix metalloproteinases activity in age-related macular
degeneraton.- Current views on Chr10q26 contribuiton to age-related macular
degeneration.- Untargeted lipidomic profiling of aged human retina with and
without age-related macular degeneration (AMD).- Decoding Race and
Age-Relation Macular Degeneration: GPR 143 Activity is the Key.- Peroxisome
proliferator-activated receptor gamma coactivator 1 alpha ( PGC-1x): a
transcriptional regulator at the interface of aging and age-related macular
degeneration?.- Regulation of ABCA1 by miR-33 and miR-34a in the aging
eye.- The role of gene expressionregulation on genetic risk of Age-related
Macular Degeneration.- Elastin layer in Bruch's membrane as a target for
immunizatio or tolerization to modulate patthology in the mouse model of
somke-induced ocular injury.- Repuprosing drugs for treatment of age-relation
macular degeneration.- Extracellular Vesicle RNA Contents as Biomarkers for
Ocular Diseases.- Proteomics of retinal extracellular vesicles: a reviw inot
an unexplored mechanism in retinal health and AMD pathogenesis.- Prime
Editing Strategy to Instally the PRHP2 c.828+1G A mutations.- Analysis of
CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.-
Generation of an Avian Myeloblastosis Virus (AMV) Reverse Transcriptase Prime
Editor.- Pre-existing neutralizing antibodies against different
adeno-associated virus serotypes in humans and large animal models for gene
therapy.- Optimization of Capillary-based Western Blotting for MYO7A.- AAV
Serotypes and Their Suitability for RetinalGene Therapy.- Gene Augmentation
ofautosomal dominant CRX-associated retinopathies.- Txnip gene therapy of
retinitis pigmentosa improves cone health Factors affecting readthrough of
natural versus premature termination codons.- Integrating Computational
Approaches to Predict the Effect of Genetic Variants on Protein Stability in
Retinal Degenerative Disease.- Network biology and medcine to resuce:
Applications for retinal disease mechanisms and therapy.- Non-sydromic
Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome
Genes.- Exonic variants that affect splicing- an opportunity for "hidden"
mutations causing inherited retinal diseases.- Enhanced S-cone Syndrome, a
Mini-Review.- The role of microglia in Inherited Retinal Diseases.- CD68:
potential contributor to inflammation and RPE cell dystrophy.- Gene
Expression of Clusterin, Tissue Inhibitor of Metalloproteinase-1, and Their
receptors in Retinal Pigment Epithelial Cells and Muller Glial Cells is
Modulated by Inflammatory Stresses.- Axonal Transport Defects in Retinal
Ganglion Cells.- Connexins biology in the pathophysiology of retinal
diseases.- Role of Nuclear NAD +in Retinal Homeostasis.- Retinal pigmented
epithelium-derived ectopic norrin does not promote intraretinal angiogenesis
in transgenic mice.- Caveolin-1 Muller glia exist as heat-resistant,high
molecular weight complexes.- Role of VLC-PUFAs in Retinal and Macular
Degeneration.- Ocular amyloid , condensates, and aggregates - higher order
protein assemblies participate in both retinal degeneration and function.-
Photoreceptor ion channels in signaling and disease.- The role of
peripherin-2 /ROM1 complexes in photoreceptor outer segment disc
morphogenesis.- Human mutations in Arl3, a small GTPase involved inlipidated
cargo delibery to the cilia cause retinatl dystropthy.- Genotype-Phenotype
Association in ABCA4-Associated Retinopathy.- Retinal pathoconnectomics: A
Window into Neurodegeneration.- The role of Ceramide in Inherited Retinal
Disease Pathology.- Extracelluar Matix: the Unexplored Aspects of Retinal
Pathologies and Regeneration.- Role of TFEB in diseases assocaited with
lysosomal dysfunction.- Retinoic acid receptor -related oprhan receptors
(RORs) in eye development and disease.- A novel mouse model for Late-Onset
Retinal Degeneration (L-ORD) devekios RPE abnormalities due to the loss of
C1qtnf5/Ctrp5.- Comparison of mouse models of autosomal dominant retinitis
pigmentosa due to P23H muations of Rhodopsin.- Compensatory Cone-Mediated
Mechanisms in Inherited Retinal Degeneration Mouse Models: A Functional and
Gene Expression Analsyis.- Inhibition of Ryanodine Receptor 1 Reduces
Endoplasmic Reticulum (ER) Sress and Promotes ER Protein Degradation in
Cyclic Nucleotide-gated Channel Deficiency.- Mouse choroid proteome
revisited: foucs on aging.- Morphological and functional comparison of mice
models for retinitis pigmentosa.- Current Advancements in Mouse Models of
Retinal Disease.- Single-cell ItrnacriptomicProfiling of Muller Glia in the
rd10 Retina.- Methods for in vivo characterization of proteostatis in the
mouse retina.- Absence or PRCD leads to dysregulation in lipie Homeostatis
resulting in disorganizationof photorecptor outer segment structure.-
Expansion Microscopy of Mouse Photoreceptro Cilia.- Rod photorecptor specific
ablation of Metformin target, AMPK, in preclinical model of autosomal
recessvie retinitis pigmentosa.- TLR2 is highly overexpressed in retinal
myeloid cells in the rd10 mouse model of retinitis pigmentosa.- Environmental
light has an essentail effrect on the diseasae expression in a dominant RPE65
mutation.- Microglia Preserve Visual Function in A Mouse Model of Retinitis
Pigmentosa with Rhodopsin-P23H Mutant.- Measuring the release of lactate from
wild-type and rd1 mouse retina.- Aerobic glycolysis in photorecptors supports
energy demand in the absence of mitochondrial coupling.- Redox Status in
Retinitis Pigmentosa.- Perspectives on retinal dolichol metabolismand visual
deficits in dolichol metalbolism-associated inherited disorders.- Retinal
metabolic profile on IMPG2 deficiency mice with subretinal lesions.-
Glutathione-coating of liposomes enhances the delivery of hydrophillic cargo
to the inner nuclear layer in retinal cultures.- Modification of Mueller
glial cell fate and proliferation with the use of small molecules.- A
potential neuroprotective role for pyruvate kinase 2 in retinal
degeneration.- Critical role of VEGF as a direct regulator of photorecptor
function.- Lysine Ubiquitylation Drives Rhodopsin Protein Turnover.-
In-silico prediction of MYO!C Rhodopsin Interactions and its Significance in
Protein Localization and Visual Function.- A ciliary branched actin netowrk
drives photoreceptor disc morphogenesis.- Revisiting the daily timing of POS
phagocytosis.- Inhibition of Bacterial Peoptidoglycan Cytopahty by Retina
Pigment Epithelial PGRP2 Amidase.- Understanding ischemic retinopathies: the
role of Succinate and its recpto^T mutation.- Inducing neural regeneratio
nfrom glia using proneural bHLH transcription factors.