ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder
Matthias Przyklenk,
Shreya Karmacharya,
Debora Bonasera
et al.
Abstract:ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1’s physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy. The disease is also associated with a complex range of other phenotypes impacting t… Show more
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