Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract. - Wikidata - wikimedia - TriplyDB

Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

http://www.wikidata.org/entity/Q37467727

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Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family Prox1 and fibroblast growth factor receptors form a novel regulatory loop controlling lens fiber differentiation and gene expression Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development.Unfolded Protein Response (UPR) is activated during normal lens development Lens fibre cell differentiation and organelle loss: many paths lead to clarity.Activation of unfolded protein response in transgenic mouse lenses.COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts Endoplasmic Reticulum Stress and Unfolded Protein Response Pathways: Potential for Treating Age-related Retinal Degeneration COL4A2 mutation associated with familial porencephaly and small-vessel disease.The unfolded protein response is activated in connexin 50 mutant mouse lenses.Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.Unfolded-protein response-associated stabilization of p27(Cdkn1b) interferes with lens fiber cell denucleation, leading to cataract ER stress signalling through eIF2α and CHOP, but not IRE1α, attenuates adipogenesis in mice.Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.Lens crystallin modifications and cataract in transgenic mice overexpressing acylpeptide hydrolase.Cell-matrix interactions in muscle disease.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Evidence for activation of the unfolded protein response in collagen IV nephropathies Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.Disassembly of the lens fiber cell nucleus to create a clear lens: The p27 descent.Mutations and mechanisms in congenital and age-related cataracts.Lens ER-stress response during cataract development in Mip-mutant mice.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts Activation of the unfolded protein response by a cataract-associated αA-crystallin mutation.Expression of Cataract-linked γ-Crystallin Variants in Zebrafish Reveals a Proteostasis Network That Senses Protein Stability.Age-related cataracts: Role of unfolded protein response, Ca2+ mobilization, epigenetic DNA modifications, and loss of Nrf2/Keap1 dependent cytoprotection.The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.Ameliorative effects of SkQ1 eye drops on cataractogenesis in senescence-accelerated OXYS rats.Lens extrusion from Laminin alpha 1 mutant zebrafish Fetal intracerebral hemorrhage and cataract: think COL4A1

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Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

http://www.wikidata.org/entity/Q37467727

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on December 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Abnormal expression of collage ...... esponse resulting in cataract.

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Abnormal expression of collage ...... esponse resulting in cataract.

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type

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Abnormal expression of collage ...... esponse resulting in cataract.

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Abnormal expression of collage ...... esponse resulting in cataract.

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Abnormal expression of collage ...... esponse resulting in cataract.

@en

Abnormal expression of collage ...... esponse resulting in cataract.

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JBC.M109.060384

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Journal of Biological Chemistry

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Abnormal expression of collage ...... esponse resulting in cataract.

@en

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Brian P Danysh

http://www.w3.org/2001/XMLSchema#string

Douglas B Gould

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Takehiro Kobayashi

http://www.w3.org/2001/XMLSchema#string

Xiaoyang Bai

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Zeynep Firtina

http://www.w3.org/2001/XMLSchema#string

P2860

Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress

ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs

XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor

pXBP1(U) encoded in XBP1 pre-mRNA negatively regulates unfolded protein response activator pXBP1(S) in mammalian ER stress response

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Endoplasmic reticulum stress: cell life and death decisions.

Global data on blindness

IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response

Clinical and Molecular genetics of Stickler syndrome

Perk is essential for translational regulation and cell survival during the unfolded protein response

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35872-35884

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scholarly article

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10.1074/JBC.M109.060384

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51

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284

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Melinda K Duncan

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2009-12-01T00:00:00Z

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19858219

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2791016

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