[PDF][PDF] Expression of long interspersed nuclear element 1 retroelements and induction of type I interferon in patients with systemic autoimmune disease

CP Mavragani, I Sagalovskiy, Q Guo… - Arthritis & …, 2016 - Wiley Online Library
Objective Increased expression of type I interferon (IFN) and a broad signature of type I IFN–
induced gene transcripts are observed in patients with systemic lupus erythematosus (SLE) …

Periodic fever syndromes

HJ Lachmann - Best practice & research Clinical rheumatology, 2017 - Elsevier
Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or
childhood and are characterised by recurrent episodes of fever and systemic inflammation …

Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières syndrome and …

JH Livingston, YJ Crow - Neuropediatrics, 2016 - thieme-connect.com
The Aicardi–Goutières syndrome (AGS) was first described in 1984, and over the following
years was defined by the clinical and radiological features of an early onset, severe …

Brain organoids and the study of neurodevelopment

CA Trujillo, AR Muotri - Trends in molecular medicine, 2018 - cell.com
Brain organoids are 3D self-assembled structures composed of hundreds of thousands to
millions of cells that resemble the cellular organization and transcriptional and epigenetic …

Translating nucleic acid-sensing pathways into therapies

T Junt, W Barchet - Nature Reviews Immunology, 2015 - nature.com
Nucleic acid sensing by innate receptors initiates immune defences against viruses and
other pathogens. A hallmark of this response is the release of interferons (IFNs), which …

RNA editing at a limited number of sites is sufficient to prevent MDA5 activation in the mouse brain

JI Kim, T Nakahama, R Yamasaki, PH Costa Cruz… - PLoS …, 2021 - journals.plos.org
Adenosine deaminase acting on RNA 1 (ADAR1), an enzyme responsible for adenosine-to-
inosine RNA editing, is composed of two isoforms: nuclear p110 and cytoplasmic p150 …

Treatments in aicardi–goutières syndrome

YJ Crow, J Shetty, JH Livingston - Developmental Medicine & …, 2020 - Wiley Online Library
Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi–
Goutières syndrome (AGS), particularly its contextualization within a putative type I …

Microglia responses to interleukin‐6 and type I interferons in neuroinflammatory disease

PK West, B Viengkhou, IL Campbell, MJ Hofer - Glia, 2019 - Wiley Online Library
Microglia are the resident macrophages of the central nervous system (CNS). They are a
heterogenous, exquisitely responsive, and highly plastic cell population, which enables …

Type I interferonopathies in pediatric rheumatology

S Volpi, P Picco, R Caorsi, F Candotti… - Pediatric …, 2016 - Springer
Defective regulation of type I interferon response is associated with severe inflammatory
phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group …

[PDF][PDF] Pro-inflammation associated with a gain-of-function mutation (R284S) in the innate immune sensor STING

H Konno, IK Chinn, D Hong, JS Orange, JR Lupski… - Cell reports, 2018 - cell.com
The cellular sensor stimulator of interferon genes (STING) initiates type I interferon (IFN) and
cytokine production following association with cyclic dinucleotides (CDNs) generated from …