Results 11 to 20 of about 21,147 (240)

Multiexon deletion alleles of ATF6 linked to achromatopsia [PDF]

JCI Insight, 2020
Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss. Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bilateral foveal hypoplasia and absent or severely reduced cone photoreceptor function on electroretinography.
Eun-Jin Lee, Wei-Chieh Jerry Chiang, Heike Kroeger, Chloe Xiaoke Bi, Daniel L. Chao, Dorota Skowronska-Krawczyk, Rebecca R. Mastey, Stephen H. Tsang, Leon Chea, Kyle Kim, Scott R. Lambert, Julia M.D. Grandjean, Britta Baumann, Isabelle Audo, Susanne Kohl, Anthony T. Moore, R. Luke Wiseman, Joseph Carroll, Jonathan H. Lin   +18 more
openaire   +6 more sources

BiP Binding Keeps ATF6 at Bay [PDF]

Developmental Cell, 2002
A study by, in this issue of Developmental Cell shows that transport to the Golgi complex and subsequent proteolytic activation of the stress-regulated transcription factor ATF6 is initiated by the dissociation of the ER chaperone BiP from ATF6. This demonstrates that BiP is a key element in sensing the folding capacity within the ER and provides ...
Sommer, Thomas, Jarosch, Ernst
openaire   +3 more sources

Molecular mechanism of ATF6 regulating the reproduction related gene HSPA1L [PDF]

Jichu yixue yu linchuang
Objective To explore the effect of endoplasmic reticulum stress activating transcription factor 6 (ATF6) on the expression of reproduction related gene heat shock protein family A member 1 like (HSPA1L) and preliminarily clarify its regulatory molecular ...
WANG Yuanyuan, ZHU Xilin, WU Xiaopan, LIU Ying
doaj   +2 more sources

Characterization of Retinal Structure in ATF6-Associated Achromatopsia [PDF]

Investigative Opthalmology & Visual Science, 2019
Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought to test the hypothesis that ATF6-associated ACHM is a structurally distinct form of congenital ACHM.Seven ...
Mastey, Rebecca R, Georgiou, Michalis, Langlo, Christopher S, Kalitzeos, Angelos, Patterson, Emily J, Kane, Thomas, Singh, Navjit, Vincent, Ajoy, Moore, Anthony T, Tsang, Stephen H, Lin, Jonathan H, Young, Marielle P, Hartnett, M Elizabeth, Héon, Elise, Kohl, Susanne, Michaelides, Michel, Carroll, Joseph   +16 more
openaire   +7 more sources

ATF6 is essential for human cone photoreceptor development [PDF]

Proceedings of the National Academy of Sciences, 2021
Significance Inactivating genetic variants in the Unfolded Protein Response (UPR) regulator Activating Transcription Factor 6 (ATF6) result in loss of color vision, which is linked to dysfunctional cone photoreceptors and the development of achromatopsia. The pathomechanims involving the lack of functional
Heike Kroeger, Julia M. D. Grandjean, Wei-Chieh Jerry Chiang, Daphne D. Bindels, Rebecca Mastey, Jennifer Okalova, Amanda Nguyen, Evan T. Powers, Jeffery W. Kelly, Neil J. Grimsey, Michel Michaelides, Joseph Carroll, R. Luke Wiseman, Jonathan H. Lin   +13 more
openaire   +4 more sources

The Unfolded Protein Response Regulator, ATF6, Promotes Mesodermal Differentiation [PDF]

The FASEB Journal, 2018
ATF6 encodes a transcription factor that is activated during the Unfolded Protein Response to protect cells from ER stress. Loss of ATF6α and its paralog ATF6β, results in embryonic lethality, notochord dysgenesis, and in people, loss of ATF6α specifically, results in malformed neuroretina and congenital vision loss.
Heike Kroeger, Neil Grimsey, Ryan Paxman, Wei-Chieh Chiang, Lars Plate, Ying Jones, Peter X. Shaw, JoAnn Trejo, Stephen H. Tsang, Evan Powers, Jeffery W. Kelly, R. Luke Wiseman, Jonathan H. Lin   +12 more
openaire   +7 more sources

Melatonin Protects Against Neuronal Apoptosis via Suppression of the ATF6/CHOP Pathway in a Rat Model of Intracerebral Hemorrhage [PDF]

Frontiers in Neuroscience, 2018
Neuronal apoptosis is an important factor accounting for the poor outcomes of intracerebral hemorrhage (ICH). This study first showed that inhibition of activating transcription factor 6 (ATF6) could alleviate secondary brain injury through anti ...
Weilin Xu, Xiaoyang Lu, Jingwei Zheng, Tao Li, Liansheng Gao, Cameron Lenahan, Anwen Shao, Jianmin Zhang, Jianmin Zhang, Jianmin Zhang, Jun Yu   +10 more
doaj   +2 more sources

Stress-Independent Activation of XBP1s and/or ATF6 Reveals Three Functionally Diverse ER Proteostasis Environments

Cell Reports, 2013
The unfolded protein response (UPR) maintains endoplasmic reticulum (ER) proteostasis through the activation of transcription factors such as XBP1s and ATF6.
Matthew D. Shoulders, Lisa M. Ryno, Joseph C. Genereux, James J. Moresco, Patricia G. Tu, Chunlei Wu, John R. Yates, III, Andrew I. Su, Jeffery W. Kelly, R. Luke Wiseman   +9 more
doaj   +2 more sources

Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome

The Journal of Clinical Investigation
Activating transcription factor 6 (ATF6) is a key regulator of the unfolded protein response (UPR) and is important for ER function and protein homeostasis in metazoan cells.
Eun-Jin Lee, Kyle Kim, Monica Sophia Diaz-Aguilar, Hyejung Min, Eduardo Chavez, Korina J. Steinbergs, Lance A. Safarta, Guirong Zhang, Allen F. Ryan, Jonathan H. Lin   +9 more
doaj   +2 more sources

A deafness-blindness syndrome results from ATF6-based disruption of the unfolded protein response

The Journal of Clinical Investigation
Sensorineural hearing loss (SNHL) is the most prevalent form of permanent hearing impairment, arising from factors such as aging, exposure to loud noise, disease, ototoxic medications, and genetic mutations.
Yuvraj Joshi, Jeffrey N. Savas
doaj   +2 more sources