Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.S1213A
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NLRP1

NM_033004.4:p.S1213A

Associated Papers

ZAKα/P38 kinase signaling pathway regulates hematopoiesis by activating the NLRP1 inflammasome.

Rodríguez-Ruiz L et al.

Embo Molecular Medicine, 2023

Inflammasome sensor NLRP1 disease variant M1184V promotes autoproteolysis and DPP9 complex formation by stabilizing the FIIND domain.

Moecking J et al.

The Journal of Biological Chemistry, 2022

Oxidized thioredoxin-1 restrains the NLRP1 inflammasome.

Ball DP et al.

Science Immunology, 2022

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant.

Herlin T et al.

Rheumatology (oxford, England), 2020

Autolytic proteolysis within the function to find domain (FIIND) is required for NLRP1 inflammasome activity.

Finger JN et al.

The Journal of Biological Chemistry, 2012

CARD8 and NLRP1 undergo autoproteolytic processing through a ZU5-like domain.

D'Osualdo A et al.

Plos One, 2011

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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."