The role of RNA editing enzyme ADAR1 in human disease

B Song, Y Shiromoto, M Minakuchi… - Wiley Interdisciplinary …, 2022 - Wiley Online Library
Adenosine deaminase acting on RNA (ADAR) catalyzes the posttranscriptional conversion
of adenosine to inosine in double‐stranded RNA (dsRNA), which can lead to the creation of …

[HTML][HTML] Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of …

K Cetin Gedik, L Lamot, M Romano… - Arthritis & …, 2022 - Wiley Online Library
Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic
dermatosis with lipodystrophy and elevated temperature/proteasome‐associated …

[HTML][HTML] The cytokines interleukin-6 and interferon-α induce distinct microglia phenotypes

PK West, AN McCorkindale, B Guennewig… - Journal of …, 2022 - Springer
Background Elevated production of the cytokines interleukin (IL)-6 or interferon (IFN)-α in the
central nervous system (CNS) is implicated in the pathogenesis of neurological diseases …

[PDF][PDF] Nucleic acid sensors as therapeutic targets for human disease

SM McWhirter, CA Jefferies - Immunity, 2020 - cell.com
Innate immune sensors that detect nucleic acids are attractive targets for therapeutic
intervention because of their diverse roles in many disease processes. In detecting RNA and …

[HTML][HTML] The role of cGAS-STING in age-related diseases from mechanisms to therapies

W Zheng, D Feng, X Xiong, X Liao, S Wang… - Aging and …, 2023 - ncbi.nlm.nih.gov
With aging, the incidence of age-related diseases increases. Hence, age-related diseases
are inevitable. However, the mechanisms by which aging leads to the onset and progression …

[HTML][HTML] The role of nucleases and nucleic acid editing enzymes in the regulation of self-nucleic acid sensing

P Santa, A Garreau, L Serpas, A Ferriere… - Frontiers in …, 2021 - frontiersin.org
Detection of microbial nucleic acids by the innate immune system is mediated by numerous
intracellular nucleic acids sensors. Upon the detection of nucleic acids these sensors induce …

[PDF][PDF] MEF2A suppresses stress responses that trigger DDX41-dependent IFN production

JR Smith, JW Dowling, MI McFadden, A Karp… - Cell reports, 2023 - cell.com
Cellular stress in the form of disrupted transcription, loss of organelle integrity, or damage to
nucleic acids can elicit inflammatory responses by activating signaling cascades canonically …

[HTML][HTML] Aicardi-Goutieres syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain

X Guo, CA Wiley, RA Steinman, Y Sheng, B Ji… - Journal of …, 2021 - Springer
Abstract Background Aicardi-Goutières syndrome (AGS) is a severe infant or juvenile-onset
autoimmune disease characterized by inflammatory encephalopathy with an elevated type 1 …

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients …

CT Kozycki, S Kodati, L Huryn, H Wang… - Annals of the …, 2022 - ard.bmj.com
Objectives To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema,
splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in …