ER stress and the unfolded protein response in neurodegeneration

C Hetz, S Saxena - Nature Reviews Neurology, 2017 - nature.com
The clinical manifestation of neurodegenerative diseases is initiated by the selective
alteration in the functionality of distinct neuronal populations. The pathology of many …

A lifetime of stress: ATF6 in development and homeostasis

RF Hillary, U FitzGerald - Journal of biomedical science, 2018 - Springer
Background Activating transcription factor 6 (ATF6) is an endoplasmic reticulum (ER)-
localised protein and member of the leucine zipper family of transcription factors. Best …

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource

NT Strande, ER Riggs, AH Buchanan… - The American Journal of …, 2017 - cell.com
With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

Cellular stress signaling and the unfolded protein response in retinal degeneration: mechanisms and therapeutic implications

T McLaughlin, A Medina, J Perkins, M Yera… - Molecular …, 2022 - Springer
Background The retina, as part of the central nervous system (CNS) with limited capacity for
self-reparation and regeneration in mammals, is under cumulative environmental stress due …

Small molecule strategies to harness the unfolded protein response: where do we go from here?

JMD Grandjean, RL Wiseman - Journal of Biological Chemistry, 2020 - ASBMB
The unfolded protein response (UPR) plays a central role in regulating endoplasmic
reticulum (ER) and global cellular physiology in response to pathologic ER stress. The UPR …

The endoplasmic reticulum: homeostasis and crosstalk in retinal health and disease

SX Zhang, JJ Wang, CR Starr, EJ Lee, S Park… - Progress in retinal and …, 2023 - Elsevier
The endoplasmic reticulum (ER) is the largest intracellular organelle carrying out a broad
range of important cellular functions including protein biosynthesis, folding, and trafficking …

Pharmacologic ATF6 activating compounds are metabolically activated to selectively modify endoplasmic reticulum proteins

R Paxman, L Plate, EA Blackwood, C Glembotski… - Elife, 2018 - elifesciences.org
Pharmacologic arm-selective unfolded protein response (UPR) signaling pathway activation
is emerging as a promising strategy to ameliorate imbalances in endoplasmic reticulum (ER) …

The intertwined roles of oxidative stress and endoplasmic reticulum stress in glaucoma

DJ Hurley, C Normile, M Irnaten, C O'Brien - Antioxidants, 2022 - mdpi.com
Glaucoma is the leading cause of irreversible blindness worldwide, and the burden of the
disease continues to grow as the global population ages. Currently, the only treatment …

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

S Broadgate, J Yu, SM Downes, S Halford - Progress in retinal and eye …, 2017 - Elsevier
The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

ER proteostasis control of neuronal physiology and synaptic function

G Martínez, S Khatiwada, M Costa-Mattioli… - Trends in neurosciences, 2018 - cell.com
Neuronal proteostasis is maintained by the dynamic integration of different processes that
regulate the synthesis, folding, quality control, and localization of proteins. The endoplasmic …