Ontology highlight
ABSTRACT:
PROVIDER: PRJEB30779 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| Other | ||||
| ERR3077120_1.fastq.gz | Fastqsanger.gz | |||
| ERR3077120_2.fastq.gz | Fastqsanger.gz | |||
| ERR3077114_1.fastq.gz | Fastqsanger.gz | |||
| ERR3077114_2.fastq.gz | Fastqsanger.gz |
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Project description:Mutations in the cone-rod homeobox (CRX) transcription factor lead to distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber congenital amaurosis (LCA). Using induced pluripotent stem cells (iPSCs) from a patient with CRX-I138fs mutation, we established an in vitro model of CRX-LCA in retinal organoids that exhibit defective photoreceptor maturation by histology and gene profiling including diminished expression of visual opsins. Gene therapy by delivery of an additional correct CRX allele using an AAV vector partially restored photoreceptor phenotype and expression of phototransduction-related genes as revealed by single cell RNA-sequencing. Retinal organoids derived from iPSCs of a second dominant CRX-LCA patient carrying a K88N mutation revealed loss of opsin expression as a common phenotype, which could also be alleviated by AAV-mediated overexpression of CRX. Our studies provide the proof-of-concept for development of gene therapy for dominant CRX-LCA and other CRX-retinopathies.
2021-02-17 | GSE152939 | GEO
Project description:Mutations in the cone-rod homeobox (CRX) transcription factor lead to distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber congenital amaurosis (LCA). Using induced pluripotent stem cells (iPSCs) from a patient with CRX-I138fs mutation, we established an in vitro model of CRX-LCA in retinal organoids that exhibit defective photoreceptor maturation by histology and gene profiling including diminished expression of visual opsins. Gene therapy by delivery of an additional correct CRX allele using an AAV vector partially restored photoreceptor phenotype and expression of phototransduction-related genes as revealed by single cell RNA-sequencing. Retinal organoids derived from iPSCs of a second dominant CRX-LCA patient carrying a K88N mutation revealed loss of opsin expression as a common phenotype, which could also be alleviated by AAV-mediated overexpression of CRX. Our studies provide the proof-of-concept for development of gene therapy for dominant CRX-LCA and other CRX-retinopathies.
2021-02-17 | GSE153099 | GEO
Project description:In retinitis pigmentosa mouse models inhibitors of histone modification enzymes LSD1and HDAC1 blocked rod degeneration, preserved vision and affected the expression of multiple genes including maintenance of rod-specific transcripts and downregulation those involved in inflammation, gliosis and cell death.
2021-08-11 | GSE169527 | GEO
Project description:The photoreceptor outer segment is the canonical example of a modified and highly specialised cilium, with an expanded membrane surface area in the form of discs or lamellae for efficient light detection. Many ciliary proteins are essential for normal photoreceptor function and cilium dysfunction often results in retinal degeneration leading to impaired vision. Herein, we investigate the function and localisation of the ciliary G-protein RAB28 in zebrafish cone photoreceptors. CRISPR-Cas9 generated rab28 mutant zebrafish display a reduction in shed outer segment material in the RPE at 1 month post fertilisation (mpf), but otherwise normal retinal structure and visual function up to 12 mpf. Cone photoreceptorspecific transgenic reporter lines show Rab28 localises almost exclusively to outer segments, independently of nucleotide binding. Co-immunoprecipitation analysis demonstrates tagged Rab28 interacts with components of the phototransduction cascade, including opsins, Phosphodiesterase 6C and Guanylate Cyclase 2D. Our data shed light on RAB28 function in cones and provide a model for RAB28-associated cone-rod dystrophy
2020-04-09 | PXD017523 | Pride
Project description:Neuronal plasticity of the inner retina has been observed in response to photoreceptor degeneration. Typically, this phenomenon has been considered maladaptive and may preclude vision restoration in the blind. However, several recent studies utilizing triggered photoreceptor ablation have shown adaptive responses in bipolar cell dendrites expected to support normal vision. Whether such homeostatic plasticity occurs during progressive photoreceptor degenerative disease to help maintain normal visual behavior is unknown. We addressed these issues in an established mouse model of Retinitis Pigmentosa caused by the P23H mutation in rhodopsin. We show robust modulation of the retinal transcriptomic network reminiscent of the neurodevelopmental state as well as potentiation of rod – rod bipolar cell signaling following rod photoreceptor degeneration. Additionally, we found highly sensitive night vision in P23H mice even when more than half of the rod photoreceptors were lost. The results implicate retinal adaptation leading to persistent visual function during photoreceptor degenerative disease.
2020-08-21 | GSE156533 | GEO
Project description:Neuronal plasticity of the inner retina has been observed in response to photoreceptor degeneration. Typically, this phenomenon has been considered maladaptive and may preclude vision restoration in the blind. However, several recent studies utilizing triggered photoreceptor ablation have shown adaptive responses in bipolar cell dendrites expected to support normal vision. Whether such homeostatic plasticity occurs during progressive photoreceptor degenerative disease to help maintain normal visual behavior is unknown. We addressed these issues in an established mouse model of Retinitis Pigmentosa caused by the P23H mutation in rhodopsin. We show robust modulation of the retinal transcriptomic network reminiscent of the neurodevelopmental state as well as potentiation of rod – rod bipolar cell signaling following rod photoreceptor degeneration. Additionally, we found highly sensitive night vision in P23H mice even when more than half of the rod photoreceptors were lost. The results implicate retinal adaptation leading to persistent visual function during photoreceptor degenerative disease.
2020-06-16 | GSE152474 | GEO
Project description:MIG seq analysis of Japanese deep-sea fishes
| PRJDB14326 | ENA
Project description:Tikidji-Hamburyan2018 - Rod phototransduction
under strong illumination
This model is described in the article:
Rods progressively escape
saturation to drive visual responses in daylight
conditions.
Tikidji-Hamburyan A, Reinhard K,
Storchi R, Dietter J, Seitter H, Davis KE, Idrees S, Mutter M,
Walmsley L, Bedford RA, Ueffing M, Ala-Laurila P, Brown TM, Lucas
RJ, Münch TA.
Nat Commun 2017 Nov; 8(1): 1813
Abstract:
Rod and cone photoreceptors support vision across large
light intensity ranges. Rods, active under dim illumination,
are thought to saturate at higher (photopic) irradiances. The
extent of rod saturation is not well defined; some studies
report rod activity well into the photopic range. Using
electrophysiological recordings from retina and dorsal lateral
geniculate nucleus of cone-deficient and visually intact mice,
we describe stimulus and physiological factors that influence
photopic rod-driven responses. We find that rod contrast
sensitivity is initially strongly reduced at high irradiances,
but progressively recovers to allow responses to moderate
contrast stimuli. Surprisingly, rods recover faster at higher
light levels. A model of rod phototransduction suggests that
phototransduction gain adjustments and bleaching adaptation
underlie rod recovery. Consistently, exogenous chromophore
reduces rod responses at bright background. Thus, bleaching
adaptation renders mouse rods responsive to modest contrast at
any irradiance. Paradoxically, raising irradiance across the
photopic range increases the robustness of rod responses.
This model is hosted on
BioModels Database
and identified by:
MODEL1710030000.
To cite BioModels Database, please use:
Chelliah V et al. BioModels: ten-year
anniversary. Nucl. Acids Res. 2015, 43(Database
issue):D542-8.
To the extent possible under law, all copyright and related or
neighbouring rights to this encoded model have been dedicated to
the public domain worldwide. Please refer to
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| MODEL1710030000 | BioModels