Associated Papers
Architecturally Low-Grade Pure Cylindrocarcinoma With CYLD1 Mutation.
Knittel R et al.
The American Journal of Dermatopathology, 2025
[Monogenic autoinflammatory uveitis].
Lequain H et al.
La Revue De Medecine Interne, 2025
Localized multiple spiradenomas are caused by somatic mosaicism in an ALPK1 hotspot mutation.
Hirano-Lotman Y et al.
The British Journal of Dermatology, 2025
IFN-γ licenses normal and pathogenic ALPK1/TIFA pathway in human monocytes.
Martin A et al.
Iscience, 2025
Immune function analysis in a pediatric patient with a de novo ALPK1 gene mutation.
Chuan X et al.
Frontiers in Immunology, 2025
Quantitative Measurement of the Kinase Activity of Wildtype ALPK1 and Disease-Causing ALPK1 Mutants Using Cell-Free Radiometric Phosphorylation Assays.
Snelling T
Bio-protocol, 2024
Measurement of the Activity of Wildtype and Disease-Causing ALPK1 Mutants in Transfected Cells With a 96-Well Format NF-κB/AP-1 Reporter Assay.
Snelling T
Bio-protocol, 2024
Multiple linear spiradenomas and ALPK1 mutation: A case report and literature review.
Furukawa Y et al.
The Australasian Journal of Dermatology, 2024
ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars.
Snelling T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
In vitro kinase assay reveals ADP-heptose-dependent ALPK1 autophosphorylation and altered kinase activity of disease-associated ALPK1 mutants.
García-Weber D et al.
Scientific Reports, 2023
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Rashid M et al.
Nature Communications, 2019
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