SAMHD1 functions and human diseases

SAA Coggins, B Mahboubi, RF Schinazi, B Kim - Viruses, 2020 - mdpi.com
Deoxynucleoside triphosphate (dNTP) molecules are essential for the replication and
maintenance of genomic information in both cells and a variety of viral pathogens. While the …

Novel and emerging treatments for Aicardi-Goutières syndrome

D Tonduti, E Fazzi, R Badolato… - Expert Review of Clinical …, 2020 - Taylor & Francis
ABSTRACT Introduction: Aicardi-Goutières syndrome (AGS) is the prototype of the type I
interferonopathies, a new heterogeneous group of autoinflammatory disorders in which type …

A multi-model pipeline for translational intracerebral haemorrhage research

SE Withers, AR Parry-Jones, SM Allan… - Translational stroke …, 2020 - Springer
Apart from acute and chronic blood pressure lowering, we have no specific medications to
prevent intracerebral haemorrhage (ICH) or improve outcomes once bleeding has occurred …

SAMHD1 limits the efficacy of forodesine in leukemia by protecting cells against the cytotoxicity of dGTP

T Davenne, J Klintman, S Sharma, RE Rigby… - Cell reports, 2020 - cell.com
The anti-leukemia agent forodesine causes cytotoxic overload of intracellular
deoxyguanosine triphosphate (dGTP) but is efficacious only in a subset of patients. We …

Elimination of rNMPs from mitochondrial DNA has no effect on its stability

PH Wanrooij, P Tran, LJ Thompson… - Proceedings of the …, 2020 - National Acad Sciences
Ribonucleotides (rNMPs) incorporated in the nuclear genome are a well-established threat
to genome stability and can result in DNA strand breaks when not removed in a timely …

The role of cutaneous type I IFNs in autoimmune and autoinflammatory diseases

JL Turnier, JM Kahlenberg - The Journal of Immunology, 2020 - journals.aai.org
IFNs are well known as mediators of the antimicrobial response but also serve as important
immunomodulatory cytokines in autoimmune and autoinflammatory diseases. An …

Lung involvement in monogenic interferonopathies

S Cazzato, A Omenetti, C Ravaglia… - European Respiratory …, 2020 - Eur Respiratory Soc
Monogenic type I interferonopathies are inherited heterogeneous disorders characterised by
early onset of systemic and organ specific inflammation, associated with constitutive …

SAMHD1‐deficient fibroblasts from Aicardi‐Goutières Syndrome patients can escape senescence and accumulate mutations

E Franzolin, S Coletta, P Ferraro, G Pontarin… - The FASEB …, 2020 - Wiley Online Library
In mammalian cells, the catabolic activity of the dNTP triphosphohydrolase SAMHD1 sets
the balance and concentration of the four dNTPs. Deficiency of SAMHD1 leads to unequally …

T Cells Produce IFN-α in the TREX1 D18N Model of Lupus-like Autoimmunity

SR Simpson, SL Rego, SE Harvey, M Liu… - The Journal of …, 2020 - journals.aai.org
Autoimmunity can result when cells fail to properly dispose of DNA. Mutations in the three-
prime repair exonuclease 1 (TREX1) cause a spectrum of human autoimmune diseases …

Tetraspanin CD81 regulates HSV-1 infection

B Benayas, I Sastre, S López-Martín, A Oo… - Medical Microbiology …, 2020 - Springer
Different members of the tetraspanin superfamily have been described to regulate different
virus infectious cycles at several stages: viral entry, viral replication or virion exit or infectivity …