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 …

LINE-1 transposable element renaissance in aging and age-related diseases

X Li, H Yu, D Li, N Liu - Ageing Research Reviews, 2024 - Elsevier
Transposable elements (TEs) are essential components of eukaryotic genomes and are
subject to stringent regulatory mechanisms to avoid their potentially deleterious effects …

Toll-like receptor 4 deficiency in Purkinje neurons drives cerebellar ataxia by impairing the BK channel-mediated after-hyperpolarization and cytosolic calcium …

J Zhu, W Qiu, F Wei, J Zhang, Y Yuan, L Liu… - Cell Death & …, 2024 - nature.com
Abstract Toll-like receptor (TLR) 4 contributes to be the induction of neuroinflammation by
recognizing pathology-associated ligands and activating microglia. In addition, numerous …

Elevated L1 expression in ataxia telangiectasia likely explained by an RNA-seq batch effect

GJ Faulkner - Neuron, 2023 - cell.com
Takahashi et al. 1 recently concluded that the retrotransposon LINE-1 (L1) drives
neurodegeneration in ataxia telangiectasia (AT). They reported increased cerebellar L1 …

Ogt deficiency induces abnormal cerebellar function and behavioral deficits of adult mice through modulating RhoA/ROCK signaling

J Zhang, K Wei, W Qu, M Wang, Q Zhu… - Journal of …, 2023 - Soc Neuroscience
Previous studies have shown the essential roles of O-GlcNAc transferase (Ogt) and O-
GlcNAcylation in neuronal development, function and neurologic diseases. However, the …

AT neurodegeneration and DNA damage-induced transcriptional stress

TT Paull, PR Woolley - DNA repair, 2024 - Elsevier
Loss of the ATM protein kinase in humans results in Ataxia-telangiectasia, a disorder
characterized by childhood-onset neurodegeneration of the cerebellum as well as cancer …

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Z Chen, A Tucci, V Cipriani, EK Gustavsson, K Ibañez… - Brain, 2023 - academic.oup.com
Improvements in functional genomic annotation have led to a critical mass of neurogenetic
discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders …

Dynamic dysregulation of retrotransposons in neurodegenerative diseases at the single-cell level

W Deng, C Citu, A Liu, Z Zhao - Genome research, 2024 - genome.cshlp.org
Retrotransposable elements (RTEs) are common mobile genetic elements comprising∼
42% of the human genome. RTEs play critical roles in gene regulation and function, but how …

POGZ suppresses 2C transcriptional program and retrotransposable elements

X Sun, T Zhang, B Tong, L Cheng, W Jiang, Y Sun - Cell Reports, 2023 - cell.com
The POGZ gene has been found frequently mutated in neurodevelopmental disorders
(NDDs) such as autism spectrum disorder (ASD) and intellectual disability (ID). We have …

Out of LINE: Transposons, genome integrity, and neurodegeneration

LC Dumitrache, PJ McKinnon - Neuron, 2022 - cell.com
Abnormal activity of LINE-1 transposable elements has been associated with neurological
disease. In this issue of Neuron, Takahashi et al.(2022) show that L1 hyperactivity occurs in …