Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
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Endoplasmic Reticulum Stress Interacts With Inflammation in Human DiseasesCanine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and TreatmentAxon injury induced endoplasmic reticulum stress and neurodegenerationREPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Recent Insights into the Role of Unfolded Protein Response in ER Stress in Health and Disease.Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyA Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.cGMP/Protein Kinase G Signaling Suppresses Inositol 1,4,5-Trisphosphate Receptor Phosphorylation and Promotes Endoplasmic Reticulum Stress in Photoreceptors of Cyclic Nucleotide-gated Channel-deficient Mice.Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term EffectsMutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of AchromatopsiaSafety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.Prolactin protects retinal pigment epithelium by inhibiting sirtuin 2-dependent cell deathAchromatopsia mutations target sequential steps of ATF6 activation.Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.ER stress and the unfolded protein response in neurodegeneration.Protein misfolding in the endoplasmic reticulum as a conduit to human disease.HDAC inhibition in the cpfl1 mouse protects degenerating cone photoreceptors in vivo.Epithelial ER Stress in Crohn's Disease and Ulcerative Colitis.REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.Endoplasmic reticulum stress in human photoreceptor diseases.Gene therapy for achromatopsia.Regulating Secretory Proteostasis through the Unfolded Protein Response: From Function to Therapy.Neuroprotection by eIF2α-CHOP inhibition and XBP-1 activation in EAE/optic neuritiss.Physiological/pathological ramifications of transcription factors in the unfolded protein response.Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent Cl- currents in human RPE.Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs.Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.Coordinating Organismal Metabolism During Protein Misfolding in the ER Through the Unfolded Protein Response.CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.CNGB3 mutations cause severe rod dysfunction.ATF6 safeguards organelle homeostasis and cellular aging in human mesenchymal stem cells.The unfolded protein response regulator ATF6 promotes mesodermal differentiation.Activating transcription factor 6α deficiency exacerbates oligodendrocyte death and myelin damage in immune-mediated demyelinating diseases.
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P2860
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
description
2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2015
@ast
im Juli 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2015/07/01)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/07/01)
@nl
наукова стаття, опублікована в липні 2015
@uk
name
Mutations in the unfolded prot ...... unction disorder achromatopsia
@ast
Mutations in the unfolded prot ...... unction disorder achromatopsia
@en
Mutations in the unfolded prot ...... unction disorder achromatopsia
@nl
type
label
Mutations in the unfolded prot ...... unction disorder achromatopsia
@ast
Mutations in the unfolded prot ...... unction disorder achromatopsia
@en
Mutations in the unfolded prot ...... unction disorder achromatopsia
@nl
prefLabel
Mutations in the unfolded prot ...... unction disorder achromatopsia
@ast
Mutations in the unfolded prot ...... unction disorder achromatopsia
@en
Mutations in the unfolded prot ...... unction disorder achromatopsia
@nl
P2093
P2860
P50
P3181
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P1476
Mutations in the unfolded prot ...... unction disorder achromatopsia
@en
P2093
Andrew R Webster
Anneke I den Hollander
Anthony T Moore
Bernd Wissinger
Ditta Zobor
Francesca Inzana
Francesco Benedicenti
Franco Stanzial
Frans P M Cremers
Günther Rudolph
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P2888
P304
P3181
P356
10.1038/NG.3319
P407
P577
2015-06-01T00:00:00Z