... development and retinal degeneration. ATF4 Crc ER stress Integrated stress response Retinitis pigmentosa adRP Retinal degeneration Each ISR kinase responds to a different type of stress: PERK (also known as EIF2AK3), an ER-resident kinase, responds to disruption in endoplasmic reticulum (ER...

... of phenotypes at different stages. We observed that these mutant animals recapitulated many key features of the human disease, and most importantly, we observed that muscle dysfunction preceded neurodegeneration. Furthermore, we tested the therapeutic efficacy of targeting endoplasmic reticulum (ER) stress...

...Desislava Doycheva; Ningbo Xu; Harpreet Kaur; Jay Malaguit; Devin William McBride; Jiping Tang; John H. Zhang ABSTRACT Endoplasmic reticulum (ER) stress is a major pathology encountered after hypoxic-ischemic (HI) injury. Accumulation of unfolded proteins triggers the unfolded protein response (UPR...

...Amanda Havighorst; Youwen Zhang; Elena Farmaki; Vimala Kaza; Ioulia Chatzistamou; Hippokratis Kiaris ABSTRACT Endoplasmic reticulum (ER) stress has been causatively linked to the onset of various pathologies. However, whether and how inherent variations in the resulting unfolded protein response...

.... The association between endoplasmic reticulum (ER) stress response and hepatocyte metabolism disorders prompted us to characterize ER stress-induced hepatic metabolic dysfunction in human induced pluripotent stem cell-derived hepatocytes (hiPSC-Hep), to explore regulatory pathways and validate a phenotypic...

... of uromodulin, due to its retention in the ER. The ER stress marker 78 kDa glucose-regulated protein (GRP78) was elevated in cells expressing mutant uromodulin in heterozygous and homozygous mutant mice, and this was accompanied, both in vivo and ex vivo , by upregulation of two unfolded protein response...

... potential mechanisms, including body mass, brain endoplasmic reticulum (ER) stress signaling and brain inflammatory signaling, which are all critical contributors to the pathogenesis of obesity-associated hypertension. Mice fed on a high-fat diet underwent sham or VSG surgery and radiotelemeter implantation...

... . Science   323 , 1693 – 1697 . Kammoun   H. L. , Chabanon   H. , Hainault   I. , Luquet   S. , Magnan   C. , Koike   T. , Ferré   P. , Foufelle   F. ( 2009 ). GRP78 expression inhibits insulin and ER stress-induced SREBP-1c activation and reduces hepatic steatosis in mice...

... trafficking defects and ER stress that triggers apoptosis. ER stress, thus, contributes to sensory hair cell loss and provides a new target to explore for protective therapies for USH. Second, the Cdh23, Harmonin, Myo7aa and Ift88 complex might function as a cargo effector required for vesicle transport...

...-chaperone-like activity, both in vitro and in vivo . Although mutations in DYT1 are associated with a rare form of heritable generalized dystonia, the native function of torsinA seems to be cytoprotective in maintaining the cellular threshold to endoplasmic reticulum (ER) stress. Here we explore...