Achromatopsia mutations target sequential steps of ATF6 activation.

scientific article published on 27 December 2016

Achromatopsia mutations target sequential steps of ATF6 activation. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1073/PNAS.1606387114
P8608Fatcat IDrelease_atxrcib4p5hxnmlopjb4n5sz7u
P932PMC publication ID5240680
P698PubMed publication ID28028229

P50authorAjoy VincentQ42844960
Susanne KohlQ47502299
Wei-Chieh ChiangQ81702226
Anna Skorczyk-WernerQ90432646
Maciej KrawczyńskiQ19690556
P2093author name stringElise Héon
Jonathan H Lin
Randal J Kaufman
Bernd Wissinger
Stephen H Tsang
Priscilla Chan
P2860cites workATF6alpha induces XBP1-independent expansion of the endoplasmic reticulumQ37186859
Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formationQ37332979
Protein misfolding in the endoplasmic reticulum as a conduit to human diseaseQ38704807
Role of endoplasmic reticulum stress in light-induced photoreceptor degeneration in miceQ39231671
ATF6alpha optimizes long-term endoplasmic reticulum function to protect cells from chronic stressQ42518206
Robust Endoplasmic Reticulum-Associated Degradation of Rhodopsin Precedes Retinal Degeneration.Q43214685
Activation of ATF6 and an ATF6 DNA binding site by the endoplasmic reticulum stress response.Q45345766
Endoplasmic reticulum stress is activated in light-induced retinal degenerationQ46955913
Transcriptional induction of mammalian ER quality control proteins is mediated by single or combined action of ATF6alpha and XBP1Q80979487
Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stressQ22010800
ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPsQ24290776
XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factorQ24292102
The unfolded protein response in retinal vascular diseases: implications and therapeutic potential beyond protein foldingQ26852080
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaQ28115716
Perk is essential for translational regulation and cell survival during the unfolded protein responseQ28140062
Translational control is required for the unfolded protein response and in vivo glucose homeostasisQ28204066
IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNAQ28214814
Regulated translation initiation controls stress-induced gene expression in mammalian cellsQ28506388
ER stress regulation of ATF6 localization by dissociation of BiP/GRP78 binding and unmasking of Golgi localization signalsQ28646129
The unfolded protein response: from stress pathway to homeostatic regulationQ29547396
IRE1 signaling affects cell fate during the unfolded protein responseQ29615502
Adaptation to ER stress is mediated by differential stabilities of pro-survival and pro-apoptotic mRNAs and proteinsQ33262919
Comparison of nonsense-mediated mRNA decay efficiency in various murine tissuesQ33390501
Endoplasmic reticulum stress and the unfolded protein responses in retinal degenerationQ34005691
A prospective longitudinal study of retinal structure and function in achromatopsia.Q34166706
Activation of mammalian unfolded protein response is compatible with the quality control system operating in the endoplasmic reticulumQ34358672
Photoreceptor structure and function in patients with congenital achromatopsia.Q35247580
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular InvolvementQ35745744
The IRE1α/XBP1s Pathway Is Essential for the Glucose Response and Protection of β Cells.Q35808715
Mutation of ATF6 causes autosomal recessive achromatopsiaQ35929399
In Vivo Visualization of Endoplasmic Reticulum Stress in the Retina Using the ERAI Reporter MouseQ36232562
Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulationQ36327872
Induction of endoplasmic reticulum stress genes, BiP and chop, in genetic and environmental models of retinal degenerationQ36391530
Stress-independent activation of XBP1s and/or ATF6 reveals three functionally diverse ER proteostasis environmentsQ37124391
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectachromatopsiaQ432396
P304page(s)400-405
P577publication date2016-12-27
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleAchromatopsia mutations target sequential steps of ATF6 activation
P478volume114

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cites work (P2860)
Q47750345Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options
Q89999387Atf6α impacts cell number by influencing survival, death and proliferation
Q45933371Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Q38653861ER stress and the unfolded protein response in neurodegeneration
Q88869497ER stress and unfolded protein response in ocular health and disease
Q92333949ERp18 regulates activation of ATF6α during unfolded protein response
Q47404960Emerging therapeutic targets currently under investigation for the treatment of systemic amyloidosis
Q92093362Establishment and validation of an endoplasmic reticulum stress reporter to monitor zebrafish ATF6 activity in development and disease
Q39016569Gene therapy for achromatopsia.
Q52609398Loss of XBP1 accelerates age-related decline in retinal function and neurodegeneration.
Q92301861Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases
Q56530196Pharmacologic ATF6 activating compounds are metabolically activated to selectively modify endoplasmic reticulum proteins
Q41583320Physiological/pathological ramifications of transcription factors in the unfolded protein response
Q33653691Recent Insights into the Role of Unfolded Protein Response in ER Stress in Health and Disease
Q39396098Regulating Secretory Proteostasis through the Unfolded Protein Response: From Function to Therapy
Q91633568The unfolded protein response in metazoan development
Q50026168The unfolded protein response regulator ATF6 promotes mesodermal differentiation.
Q55498838Unfolding the Endoplasmic Reticulum of a Social Amoeba: Dictyostelium discoideum as a New Model for the Study of Endoplasmic Reticulum Stress.

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