Molecular mechanisms and cellular functions of cGAS–STING signalling

KP Hopfner, V Hornung - Nature reviews Molecular cell biology, 2020 - nature.com
The cGAS–STING signalling axis, comprising the synthase for the second messenger cyclic
GMP–AMP (cGAS) and the cyclic GMP–AMP receptor stimulator of interferon genes …

Transposable elements, inflammation, and neurological disease

A Saleh, A Macia, AR Muotri - Frontiers in neurology, 2019 - frontiersin.org
Transposable Elements (TE) are mobile DNA elements that can replicate and insert
themselves into different locations within the host genome. Their propensity to self …

RNase H2, mutated in Aicardi‐Goutières syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation

A Cristini, M Tellier, F Constantinescu, C Accalai… - Nature …, 2022 - nature.com
RNase H2 is a specialized enzyme that degrades RNA in RNA/DNA hybrids and deficiency
of this enzyme causes a severe neuroinflammatory disease, Aicardi Goutières syndrome …

[HTML][HTML] DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

AMS Giordano, M Luciani, F Gatto… - Journal of Experimental …, 2022 - rupress.org
Aberrant induction of type I IFN is a hallmark of the inherited encephalopathy Aicardi-
Goutières syndrome (AGS), but the mechanisms triggering disease in the human central …

Structures, functions and adaptations of the human LINE-1 ORF2 protein

ET Baldwin, T van Eeuwen, D Hoyos, A Zalevsky… - Nature, 2024 - nature.com
Abstract The LINE-1 (L1) retrotransposon is an ancient genetic parasite that has written
around one-third of the human genome through a 'copy and paste'mechanism catalysed by …

N6-methyladenosine regulates the stability of RNA:DNA hybrids in human cells

A Abakir, TC Giles, A Cristini, JM Foster, N Dai… - Nature …, 2020 - nature.com
R-loops are nucleic acid structures formed by an RNA: DNA hybrid and unpaired single-
stranded DNA that represent a source of genomic instability in mammalian cells,,–. Here we …

LINE-1 retrotransposition and its deregulation in cancers: implications for therapeutic opportunities

C Mendez-Dorantes, KH Burns - Genes & development, 2023 - genesdev.cshlp.org
Abstract Long interspersed element 1 (LINE-1) is the only protein-coding transposon that is
active in humans. LINE-1 propagates in the genome using RNA intermediates via …

Endogenous retroviruses and TDP-43 proteinopathy form a sustaining feedback driving intercellular spread of Drosophila neurodegeneration

YH Chang, J Dubnau - Nature Communications, 2023 - nature.com
Inter-cellular movement of “prion-like” proteins is thought to explain propagation of
neurodegeneration between cells. For example, propagation of abnormally phosphorylated …

Replication protein A: a multifunctional protein with roles in DNA replication, repair and beyond

R Dueva, G Iliakis - NAR cancer, 2020 - academic.oup.com
Single-stranded DNA (ssDNA) forms continuously during DNA replication and is an
important intermediate during recombination-mediated repair of damaged DNA. Replication …

Repetitive elements in aging and neurodegeneration

KE Copley, J Shorter - Trends in Genetics, 2023 - cell.com
Repetitive elements (REs), such as transposable elements (TEs) and satellites, comprise
much of the genome. Here, we review how TEs and (peri) centromeric satellite DNA may …