Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.S51A
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ERN1

NM_001433.5:p.S51A

Associated Papers

Misfolded proinsulin in the endoplasmic reticulum during development of beta cell failure in diabetes.

Arunagiri A et al.

Annals of the New York Academy of Sciences, 2018

Role of the unfolded protein response in β cell compensation and failure during diabetes.

Rabhi N et al.

Journal of Diabetes Research, 2014

Endoplasmic reticulum and the unfolded protein response: dynamics and metabolic integration.

Bravo R et al.

International Review of Cell and Molecular Biology, 2013

Eukaryotic initiation factor 2alpha phosphorylation is required for B-cell maturation and function in mice.

Mielke N et al.

Haematologica, 2011

PERK in beta cell biology and insulin biogenesis.

Cavener DR et al.

Trends in Endocrinology and Metabolism: Tem, 2010

PERK-dependent compartmentalization of ERAD and unfolded protein response machineries during ER stress.

Kondratyev M et al.

Experimental Cell Research, 2007

Role of E2F1 in endoplasmic reticulum stress signaling.

Park KM et al.

Molecules and Cells, 2006

WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells.

Yamada T et al.

Human Molecular Genetics, 2006

The protein kinase/endoribonuclease IRE1alpha that signals the unfolded protein response has a luminal N-terminal ligand-independent dimerization domain.

Liu CY et al.

The Journal of Biological Chemistry, 2002

Ultraviolet light inhibits translation through activation of the unfolded protein response kinase PERK in the lumen of the endoplasmic reticulum.

Wu S et al.

The Journal of Biological Chemistry, 2002

Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase.

Harding HP et al.

Nature, 1999

A serine residue in ClC-3 links phosphorylation-dephosphorylation to chloride channel regulation by cell volume.

Duan D et al.

The Journal of General Physiology, 1999

Phosphorylation of eukaryotic translation initiation factor 2 mediates apoptosis in response to activation of the double-stranded RNA-dependent protein kinase.

Srivastava SP et al.

The Journal of Biological Chemistry, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."