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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease Synaptic remodeling of neuronal circuits in early retinal degeneration Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice A novel immunodeficient NOD.SCID-rd1 mouse model of retinitis pigmentosa to investigate potential therapeutics and pathogenesis of retinal degeneration IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.Combined transplantation of human mesenchymal stem cells and human retinal progenitor cells into the subretinal space of RCS rats.microRNA-34a-Mediated Down-Regulation of the Microglial-Enriched Triggering Receptor and Phagocytosis-Sensor TREM2 in Age-Related Macular Degeneration A method for isolation of cone photoreceptors from adult zebrafish retinae Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease).Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria.Photoreceptors at a glance.Human melanopsin-AAV2/8 transfection to retina transiently restores visual function in rd1 mice.Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing Early Events in Retinal Degeneration Caused by Rhodopsin Mutation or Pigment Epithelium Malfunction: Differences and Similarities.Pathology of Mouse Models of Accelerated Aging.Application of lipid nanoparticles to ocular drug delivery.Structural and molecular bases of rod photoreceptor morphogenesis and disease.Hereditary Retinal Dystrophy.Applications of CRISPR/Cas9 in retinal degenerative diseases Genetics of age-related macular degeneration (AMD).Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.A Brain-Derived Neurotrophic Factor Mimetic Is Sufficient to Restore Cone Photoreceptor Visual Function in an Inherited Blindness Model.Protective effect of clusterin on rod photoreceptor in rat model of retinitis pigmentosa Assessment of Safety and Functional Efficacy of Stem Cell-Based Therapeutic Approaches Using Retinal Degenerative Animal Models.Effects of Repeated Anesthesia Containing Urethane on Tumor Formation and Health Scores in Male C57BL/6J Mice.Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.From bench to patient: model systems in drug discovery MEF2D haploinsufficiency downregulates the NRF2 pathway and renders photoreceptors susceptible to light-induced oxidative stress.The pigmented epithelium, a bright partner against photoreceptor degeneration.Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas.Transcriptome analysis reveals rod/cone photoreceptor specific signatures across mammalian retinas.Phenotypic characterization of P23H and S334ter rhodopsin transgenic rat models of inherited retinal degeneration.An inducible amphipathic helix within the intrinsically disordered C terminus can participate in membrane curvature generation by peripherin-2/rds.BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.Tissue inhibitor of metalloproteinases 1 enhances rod survival in the rd1 mouse retina.A Drug-Tunable Gene Therapy for Broad-Spectrum Protection against Retinal Degeneration

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

http://www.wikidata.org/entity/Q28084726

description

2015 nî lūn-bûn

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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2015 թվականի փետրվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Disease Models & Mechanisms

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Biology and therapy of inherited retinal degenerative disease: insights from mouse models

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Bo Chang

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Csilla H. Lazar

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Eyal Banin

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Paul A. Sieving

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Creative Commons Attribution

P2860

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

A conserved retina-specific gene encodes a basic motif/leucine zipper domain

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

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genetic disease

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biomedical investigative technique

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