Associated Papers
Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene.
Sun Z et al.
American Journal of Ophthalmology, 2026
Tocilizumab as a treatment tool for ROSAH syndrome: a case report.
Teixeira-Martins R et al.
Journal of Ophthalmic Inflammation and Infection, 2025
Discovery of a selective alpha-kinase 1 inhibitor for the rare genetic disease ROSAH syndrome.
Fan J et al.
Nature Communications, 2025
Crosstalk Between ALPK1 and STING: A Synergistic Axis in Innate Immune Activation and Human Inflammatory Disease.
Shi CS et al.
Biorxiv : the Preprint Server for Biology, 2025
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study.
Hong R et al.
Ophthalmic Genetics, 2025
[Monogenic autoinflammatory uveitis].
Lequain H et al.
La Revue De Medecine Interne, 2025
IFN-γ licenses normal and pathogenic ALPK1/TIFA pathway in human monocytes.
Martin A et al.
Iscience, 2025
Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.
Shunyakova J et al.
Frontiers in Ophthalmology, 2025
Immune function analysis in a pediatric patient with a de novo ALPK1 gene mutation.
Chuan X et al.
Frontiers in Immunology, 2025
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.
Snelling T et al.
Open Biology, 2024
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
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
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Huryn LA et al.
Ophthalmology, 2023
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT et al.
Annals of the Rheumatic Diseases, 2022
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0