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  1. Article

    Open Access

    Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans

    Age-related microangiopathy, also known as small vessel disease (SVD), causes damage to the brain, retina, liver, and kidney. Based on the DNA damage theory of aging, we reasoned that genomic instability may u...

    Samuel D. Chauvin, Shoichiro Ando, Joe A. Holley, Atsushi Sugie… in Nature Communications (2024)

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  2. Article

    Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

    Ann Y. Park, Michael Leney-Greene, Matthew Lynberg… in Nature Immunology (2024)

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  3. No Access

    Article

    GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

    Preserving cells in a functional, non-senescent state is a major goal for extending human healthspans. Model organisms reveal that longevity and senescence are genetically controlled, but how genes control lon...

    Ann Y. Park, Michael Leney-Greene, Matthew Lynberg… in Nature Immunology (2024)

  4. No Access

    Article

    A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease

    X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disease is an inborn error of immunity caused by loss-of-function mutations i...

    Samuel D. Chauvin, Susan Price, Juan Zou… in Journal of Clinical Immunology (2022)

  5. No Access

    Article

    Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease

    Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy (CHAPLE disease) is a lethal disease caused by genetic loss of the complement regulatory protein CD55, leading to overactivatio...

    Ahmet Ozen, Nurhan Kasap, Ivan Vujkovic-Cvi**, Richard Apps… in Nature Immunology (2021)

  6. No Access

    Article

    An Update on XMEN Disease

    “X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia” (XMEN) disease is an inborn error of glycosylation and immunity caused by loss of function mutations in the ...

    Juan C. Ravell, Samuel D. Chauvin, Tingyan He… in Journal of Clinical Immunology (2020)