Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

MJ McConnell, JV Moran, A Abyzov, S Akbarian, T Bae… - Science, 2017 - science.org
BACKGROUND Elucidating the genetic architecture of neuropsychiatric disorders remains a
major scientific and medical challenge. Emerging genomic technologies now permit the …

Dissecting aging and senescence—current concepts and open lessons

C Schmeer, A Kretz, D Wengerodt, M Stojiljkovic… - Cells, 2019 - mdpi.com
In contrast to the programmed nature of development, it is still a matter of debate whether
aging is an adaptive and regulated process, or merely a consequence arising from a …

[HTML][HTML] Intracellular reverse transcription of Pfizer BioNTech COVID-19 mRNA vaccine BNT162b2 in vitro in human liver cell line

M Aldén, F Olofsson Falla, D Yang… - Current issues in …, 2022 - mdpi.com
Preclinical studies of COVID-19 mRNA vaccine BNT162b2, developed by Pfizer and
BioNTech, showed reversible hepatic effects in animals that received the BNT162b2 …

Postmortem cortex samples identify distinct molecular subtypes of ALS: retrotransposon activation, oxidative stress, and activated glia

OH Tam, NV Rozhkov, R Shaw, D Kim, I Hubbard… - Cell reports, 2019 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
the progressive loss of motor neurons. While several pathogenic mutations have been …

Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation

CA Thomas, L Tejwani, CA Trujillo, PD Negraes… - Cell stem cell, 2017 - cell.com
Three-prime repair exonuclease 1 (TREX1) is an anti-viral enzyme that cleaves nucleic
acids in the cytosol, preventing accumulation and a subsequent type I interferon-associated …

Loss of nuclear TDP-43 is associated with decondensation of LINE retrotransposons

EY Liu, J Russ, CP Cali, JM Phan, A Amlie-Wolf… - Cell reports, 2019 - cell.com
Loss of the nuclear RNA binding protein TAR DNA binding protein-43 (TDP-43) into
cytoplasmic aggregates is the strongest correlate to neurodegeneration in amyotrophic …

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 …

The landscape of L1 retrotransposons in the human genome is shaped by pre-insertion sequence biases and post-insertion selection

T Sultana, D van Essen, O Siol, M Bailly-Bechet… - Molecular cell, 2019 - cell.com
L1 retrotransposons are transposable elements and major contributors of genetic variation
in humans. Where L1 integrates into the genome can directly impact human evolution and …

Locus-resolution analysis of L1 regulation and retrotransposition potential in mouse embryonic development

P Gerdes, D Chan, M Lundberg… - Genome …, 2023 - genome.cshlp.org
Mice harbor∼ 2800 intact copies of the retrotransposon Long Interspersed Element 1 (L1).
The in vivo retrotransposition capacity of an L1 copy is defined by both its sequence integrity …

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 …