Varaico: Literature-Extracted Genetic Variants

Gene:HSPA5
Variant:p.V461F
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HSPA5

NM_005347.5:p.V461F

Associated Papers

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

El Chehadeh S et al.

Nature Communications, 2022

35840571 (PubMed )
Supplement: 41467_2022_31566_MOESM1_ESM.pdf

Structures of a deAMPylation complex rationalise the switch between antagonistic catalytic activities of FICD.

Perera LA et al.

Nature Communications, 2021

Factor VIII exhibits chaperone-dependent and glucose-regulated reversible amyloid formation in the endoplasmic reticulum.

Poothong J et al.

Blood, 2020

An oligomeric state-dependent switch in the ER enzyme FICD regulates AMPylation and deAMPylation of BiP.

Perera LA et al.

The Embo Journal, 2019

MANF antagonizes nucleotide exchange by the endoplasmic reticulum chaperone BiP.

Yan Y et al.

Nature Communications, 2019

A J-Protein Co-chaperone Recruits BiP to Monomerize IRE1 and Repress the Unfolded Protein Response.

Amin-Wetzel N et al.

Cell, 2017

AMPylation targets the rate-limiting step of BiP's ATPase cycle for its functional inactivation.

Preissler S et al.

Elife, 2017

FICD acts bifunctionally to AMPylate and de-AMPylate the endoplasmic reticulum chaperone BiP.

Preissler S et al.

Nature Structural & Molecular Biology, 2017

AMPylation matches BiP activity to client protein load in the endoplasmic reticulum.

Preissler S et al.

Elife, 2015

Regulated association of misfolded endoplasmic reticulum lumenal proteins with P58/DNAJc3.

Petrova K et al.

The Embo Journal, 2008

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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."