Publications related to Werner syndrome

Predictive health assessment for lithium-ion batteries with probabilistic degradation prediction and accelerating aging detection

Predictive health assessment is of vital importance for smarter battery management to ensure optimal and safe operations and thus make the most use of battery life. This paper proposes a general framework for battery aging prognostics in order to provide t ...

Elsevier Sci Ltd2023

Exploring the mechanisms governing nuclear cGAS localization and activity

Marilena Wischnewski

Recognition of pathogen-derived molecules through germline-encoded receptors is a fundamental principle of innate immunity. Pattern recognition receptors detect specific intracellular danger signals to trigger potent immune responses. The DNA sensor cyclic ...

EPFL2022

TFIIH moonlighting at telomeres

Joachim Lingner, Galina Glousker

Although telomeres are essential for chromosome stability, they represent fragile structures in our genome. Telomere shortening occurs during aging in cells lacking telomerase due to the end replication problem. In addition, recent work uncovered that the ...

COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT2022

The makings of TERRA R-loops at chromosome ends

Joachim Lingner, Marianna Feretzaki, Rita Valador Fernandes

Telomeres protect chromosome ends from nucleolytic degradation, uncontrolled recombination by DNA repair enzymes and checkpoint signaling, and they provide mechanisms for their maintenance by semiconservative DNA replication, telomerase and homologous reco ...

TAYLOR & FRANCIS INC2021

PRDX1 Counteracts Catastrophic Telomeric Cleavage Events That Are Triggered by DNA Repair Activities Post Oxidative Damage

Joachim Lingner, Wareed Ahmed

Telomeres are prone to damage inflicted by reactive oxygen species (ROS). Oxidized telomeric DNA and nucleotide substrates inhibit telomerase, causing telomere shortening. In addition, ROS can induce telomeric single-strand DNA breaks (SSBs). The peroxired ...

2020

Human shelterin protein POT1 prevents severe telomere instability induced by homology-directed DNA repair

Joachim Lingner, Galina Glousker, Anna-Sophia Briod

The evolutionarily conserved POT1 protein binds single-stranded G-rich telomeric DNA and has been implicated in contributing to telomeric DNA maintenance and the suppression of DNA damage checkpoint signaling. Here, we explore human POT1 function through g ...

WILEY2020

RAD51-dependent recruitment of TERRA lncRNA to telomeres through R-loops

Joachim Lingner, Thomas Frédéric Lunardi, Marianna Feretzaki, Rita Valador Fernandes

Telomeres-repeated, noncoding nucleotide motifs and associated proteins that are found at the ends of eukaryotic chromosomes-mediate genome stability and determine cellular lifespan1. Telomeric-repeat-containing RNA (TERRA) is a class of long noncoding RNA ...

2020

RADX: A novel single-stranded DNA-binding protein regulating telomere recombination

Anna-Sophia Briod

Telomeres are specialized nucleoprotein structures present at the ends of linear chromosome. The telomeric DNA part is comprised of 5-15 kilo base pairs of double stranded TTAGGG repeats and it contains at the 3' end a single-stranded G-rich overhang of 50 ...

EPFL2019

When Telomerase Causes Telomere Loss

Joachim Lingner, Galina Glousker

Telomerase counteracts telomere shortening, preventing cellular senescence. Telomerase deficiency causes telomere syndromes because of premature telomere exhaustion in highly proliferative cells. Paradoxically, in a recent issue of Cell, Margalef et al. (2 ...

Cell Press - Elsevier2018

Telomeric states in cancer development

Jana Majerská

Telomere dysfunction can unleash genome instability or permanently arrest cell proliferation, and thereby contribute to the processes of cancer and aging. Proper telomere function relies on many proteins that form part of its structure. Some telomeric prot ...

EPFL2018

Quantitative telomeric chromatin isolation protocol for human cells

Joachim Lingner, Sophie Redon, Jana Majerská

The ends of eukaryotic chromosomes, known as telomeres, consist of repetitive DNA sequences, multiple proteins and noncoding RNAs. Telomeres are dynamic structures that play crucial roles as guardians of genome stability and tumor suppressors. Defects in t ...

2017

The telomeric DNA damage response occurs in the absence of chromatin decompaction

Joachim Lingner, Suliana Manley, Verena Pfeiffer, Aleksandra Vancevska, Kyle Michael Douglass

Telomeres are specialized nucleoprotein structures that protect chromosome ends from DNA damage response (DDR) and DNA rearrangements. The telomeric shelterin protein TRF2 suppresses the DDR, and this function has been attributed to its abilities to trigge ...

Cold Spring Harbor Laboratory2017

Peroxiredoxin 1 Protects Telomeres from Oxidative Damage and Preserves Telomeric DNA for Extension by Telomerase

Joachim Lingner, Viesturs Simanis, Sophie Redon, Wareed Ahmed, Eric Aeby

Oxidative damage of telomeres can promote cancer, cardiac failure, and muscular dystrophy. Specific mechanisms protecting telomeres from oxidative damage have not been described. We analyzed telomeric chromatin composition during the cell cycle and show th ...

Elsevier2016

Cerium oxide nanoparticles, combining antioxidant and UV shielding properties, prevent UV-induced cell damage and mutagenesis

Andrzej Sienkiewicz, Fanny Caputo

Efficient inorganic UV shields, mostly based on refracting TiO2 particles, have dramatically changed the sun exposure habits. Unfortunately, health concerns have emerged from the pro-oxidant photocatalytic effect of UV-irradiated TiO2, which mediates toxic ...

Royal Soc Chemistry2015

No DDRama at chromosome ends: TRF2 takes centre stage

Antonio Porro, Liuh-Yow Chen, Sascha Feuerhahn

Telomeres are nucleoprotein structures capping the natural termini of eukaryotic linear chromosomes. Telomeres possess an inherent ability to circumvent the activation of a full-blown DNA damage response (DDR), and hence fusion reactions, by limiting inapp ...

Elsevier Science London2015

Molecular basis of telomere syndrome caused by CTC1 mutations

Joachim Lingner, Liuh-Yow Chen, Jana Majerská

Mutations in CTC1 lead to the telomere syndromes Coats Plus and dyskeratosis congenita (DC), but the molecular mechanisms involved remain unknown. CTC1 forms with STN1 and TEN1 a trimeric complex termed CST, which binds ssDNA, promotes telomere DNA synthes ...

Cold Spring Harbor Laboratory Press2013

A quantitative telomeric chromatin isolation protocol identifies different telomeric states

Joachim Lingner, Romain Hamelin, Eric Aeby, Larissa Grolimund, Florence Armand, Diego Chiappe, Marc Moniatte

Telomere composition changes during tumourigenesis, aging and in telomere syndromes in a poorly defined manner. Here we develop a quantitative telomeric chromatin isolation protocol (QTIP) for human cells, in which chromatin is cross-linked, immunopurified ...

Nature Publishing Group2013

A Quantitative Telomeric Chromatin Isolation Protocol (Q-TIP) to Characterize Telomere Composition Changes

Larissa Grolimund

Telomeres protect linear ends of eukaryotic chromosomes by preventing chromosomal end-to-end fusions and telomere attrition. They consist of repetitive DNA sequences, telomeric repeat containing RNAs (TERRAs) and proteins. Telomeres play a crucial role in ...

EPFL2013

TERRA Promotes Telomere Shortening through Exonuclease 1-Mediated Resection of Chromosome Ends

Joachim Lingner, Verena Pfeiffer

The long noncoding telomeric repeat containing RNA (TERRA) is expressed at chromosome ends. TERRA upregulation upon experimental manipulation or in ICF (immunodeficiency, centromeric instability, facial anomalies) patients correlates with short telomeres. ...

Public Library of Science2012

Insight into the Regulation of Telomerase Access to Telomeres by Shelterin Proteins

Elena Aritonovska

Recruitment to telomeres is a pivotal step in the function and regulation of human telomerase. Impaired telomerase function can lead to premature organismal aging, development of cancer and multisystem disorders such as dyskeratosis congenita. Telomerase a ...

EPFL2011