Restricting retrotransposons: a review
JL Goodier - Mobile DNA, 2016 - Springer
Retrotransposons have generated about 40% of the human genome. This review examines
the strategies the cell has evolved to coexist with these genomic “parasites”, focussing on …
the strategies the cell has evolved to coexist with these genomic “parasites”, focussing on …
Long 3′ UTRs predispose neurons to inflammation by promoting immunostimulatory double-stranded RNA formation
Loss of RNA homeostasis underlies numerous neurodegenerative and neuroinflammatory
diseases. However, the molecular mechanisms that trigger neuroinflammation are poorly …
diseases. However, the molecular mechanisms that trigger neuroinflammation are poorly …
Self-awareness: Nucleic acid–driven inflammation and the type I interferonopathies
C Uggenti, A Lepelley, YJ Crow - Annual review of immunology, 2019 - annualreviews.org
Recognition of foreign nucleic acids is the primary mechanism by which a type I interferon–
mediated antiviral response is triggered. Given that human cells are replete with DNA and …
mediated antiviral response is triggered. Given that human cells are replete with DNA and …
Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response
KJ Mackenzie, P Carroll, L Lettice… - The EMBO …, 2016 - embopress.org
Aicardi–Goutières syndrome (AGS) provides a monogenic model of nucleic acid‐mediated
inflammation relevant to the pathogenesis of systemic autoimmunity. Mutations that impair …
inflammation relevant to the pathogenesis of systemic autoimmunity. Mutations that impair …
Astrocytes are central in the pathomechanisms of vanishing white matter
S Dooves, M Bugiani, NL Postma… - The Journal of …, 2016 - Am Soc Clin Investig
Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes
encoding subunits of eukaryotic translation initiation factor 2B (eIF2B). Disease onset and …
encoding subunits of eukaryotic translation initiation factor 2B (eIF2B). Disease onset and …
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2
Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet
its direct role remains to be conclusively proven. We investigated two siblings with severe …
its direct role remains to be conclusively proven. We investigated two siblings with severe …
Novel and emerging treatments for Aicardi-Goutières syndrome
ABSTRACT Introduction: Aicardi-Goutières syndrome (AGS) is the prototype of the type I
interferonopathies, a new heterogeneous group of autoinflammatory disorders in which type …
interferonopathies, a new heterogeneous group of autoinflammatory disorders in which type …
Cellular and molecular mechanisms of immune dysregulation and autoimmunity
Primary immunodeficiencies (PIDs) constitute a large group of rare disorders that affect the
function of the immune system. A specific group of PIDs entitled “diseases of immune …
function of the immune system. A specific group of PIDs entitled “diseases of immune …
International union of basic and clinical pharmacology. XCVI. Pattern recognition receptors in health and disease
Since the discovery of Toll, in the fruit fly Drosophila melanogaster, as the first described
pattern recognition receptor (PRR) in 1996, many families of these receptors have been …
pattern recognition receptor (PRR) in 1996, many families of these receptors have been …
Astrocytes, an active player in Aicardi–Goutières syndrome
Aicardi–Goutières syndrome (AGS) is an early‐onset, autoimmune and genetically
heterogeneous disorder with severe neurologic injury. Molecular studies have established …
heterogeneous disorder with severe neurologic injury. Molecular studies have established …