Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract
Zeynep Firtina,Brian P. Danysh,Xiaoyang Bai,Douglas B. Gould,Takehiro Kobayashi,Melinda K. Duncan +5 more
TLDR
In vivo evidence is provided for a role of UPR in cataract formation in response to accumulation of terminally unfolded proteins in the endoplasmic reticulum using two different mouse models.About:
This article is published in Journal of Biological Chemistry.The article was published on 2009-12-18 and is currently open access. It has received 74 citations till now. The article focuses on the topics: Lens fiber cell differentiation & ATF6.read more
Citations
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疟原虫var基因转换速率变化导致抗原变异[英]／Paul H, Robert P, Christodoulou Z, et al//Proc Natl Acad Sci U S A
TL;DR: PfPMP1）与感染红细胞、树突状组胞以及胎盘的单个或多个受体作用，在黏附及免疫逃避中起关键的作�ly.
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COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
TL;DR: The contributions of COL4A1 andCOL4A2 mutations in human disease are summarized, knowledge gained from model organisms are integrated and the implications for pathogenic mechanisms and therapeutic approaches are evaluated.
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Lens fibre cell differentiation and organelle loss: many paths lead to clarity.
TL;DR: It is apparent that multiple, parallel and redundant pathways are involved in this process and that these pathways form interacting networks and it is possible that the pathways can functionally compensate for each other, for example in mouse knockout studies.
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COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
Marion Jeanne,Cassandre Labelle-Dumais,Jeff R Jorgensen,W. Berkeley Kauffman,Grazia M.S. Mancini,Jack Favor,Valerie Valant,Steven M. Greenberg,Jonathan Rosand,Douglas B. Gould +9 more
TL;DR: The identification of putative COL4A2 mutations that might contribute to ICH in human patients provides insight into the pathogenic mechanisms of this disease and suggests thatcol4A1 and COL4a2 mutations contribute to sporadic cases of ICH.
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Mutations and mechanisms in congenital and age-related cataracts.
TL;DR: Current concepts pointing to differences in the molecular mechanisms underlying congenital and age-related forms of cataract are summarized.
References
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疟原虫var基因转换速率变化导致抗原变异[英]／Paul H, Robert P, Christodoulou Z, et al//Proc Natl Acad Sci U S A
TL;DR: PfPMP1）与感染红细胞、树突状组胞以及胎盘的单个或多个受体作用，在黏附及免疫逃避中起关键的作�ly.
Journal ArticleDOI
XBP1 mRNA Is Induced by ATF6 and Spliced by IRE1 in Response to ER Stress to Produce a Highly Active Transcription Factor
TL;DR: The transcription factor XBP1, a target of ATF6, is identified as a mammalian substrate of such an unconventional mRNA splicing system and it is shown that only the spliced form of X BP1 can activate the UPR efficiently.
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Regulated Translation Initiation Controls Stress-Induced Gene Expression in Mammalian Cells
Heather P. Harding,Isabel Novoa,Yuhong Zhang,Huiqing Zeng,Ronald C. Wek,Matthieu Schapira,David Ron +6 more
TL;DR: Protein kinases that phosphorylate the alpha subunit of eukaryotic initiation factor 2 (eIF2alpha) are activated in stressed cells and negatively regulate protein synthesis, resulting in the induction of the downstream gene CHOP (GADD153).
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IRE1 couples endoplasmic reticulum load to secretory capacity by processing the XBP-1 mRNA
Marcella Calfon,Huiqing Zeng,Fumihiko Urano,Jeffery H. Till,Stevan R. Hubbard,Heather P. Harding,Scott G. Clark,David Ron +7 more
TL;DR: It is demonstrated that mutations in either ire-1 or the transcription-factor-encoding xbp-1 gene abolished the UPR in Caenorhabditis elegans, suggesting that physiological ER load regulates a developmental decision in higher eukaryotes.
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Dynamic interaction of BiP and ER stress transducers in the unfolded-protein response
Anne Bertolotti,Yuhong Zhang,Linda M. Hendershot,Linda M. Hendershot,Heather P. Harding,David Ron +5 more
TL;DR: In this article, the lumenal domains of transmembrane protein kinases (PERK and IRE1) were found to be functionally interchangeable in mediating an ER stress response and that in unstressed cells, both L1 and L2 domains formed a stable complex with the ER chaperone BiP.