Publications associées à Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes

Publications associées (16)

Oxidative stress at telomeres triggers internal DNA loops, TRF1 dissociation, and TRF2-dependent R-loops

Leona Brandl, Joachim Lingner, Wareed Ahmed, Eftychia Kyriacou, Thomas Frédéric Lunardi, Thu Trang Nguyen

Telomeres are the nucleoprotein structures at chromosome ends. Telomeres are particularly sensitive to oxidative stress, which can induce telomere damage, shortening, and premature cellular senescence. How oxidative damage influences telomere structure has ...

2025

Decoding the Clinical and Molecular Signatures of EGFR Common, Compound, and Uncommon Mutations in NSCLC: A Brief Report

Daniele Tavernari

Introduction: EGFR mutations are key oncogenic drivers in lung adenocarcinoma (LUAD), predominantly affecting Asian, nonsmoking, and female populations. Although common mutations, such as exon 19 deletions and L858R, respond well to tyrosine kinase inhibit ...

ELSEVIER SCIENCE INC2025

Mitochondria-specific signature of oxidative damage in human cancers: an excess of A>G on heavy chain of the mitochondrial genome in slow-dividing normoxic tissues

Konstantin Popadin

Springernature2024

CDN1163, an activator of sarco/endoplasmic reticulum Ca2+ ATPase, up-regulates mitochondrial functions and protects against lipotoxicity in pancreatic β-cells

Andreas Wiederkehr

Background and Purpose: High levels of Ca2+ in the endoplasmic reticulum (ER), established by the sarco/endoplasmic reticulum Ca2+ ATPase (SERCA), are required for protein folding and cell signalling. Excessive ER Ca2+ release or decreased SERCA activity i ...

2023

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline

Konstantin Popadin

The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely accepted that m.3243A > G levels decrease in blood with age, and an age c ...

Oxford University Press2022

Urolithin A improves mitochondrial health, reduces cartilage degeneration, and alleviates pain in osteoarthritis

Pamela Solange Valdés Undurraga

Osteoarthritis (OA) is the most common age-related joint disorder with no effective therapy. According to the World Health Organization, OA affects over 500 million people and is characterized by degradation of cartilage and other joint tissues, severe pai ...

WILEY2022

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

Hirotaka Yamada, Maria del Carmen Sandi Perez, Cristina Ramona Cudalbu Moldovan, Dunja Simicic, Jocelin Grosse

Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain. Creatine is taken from the diet or endogenously synthetized by the enzymes AGAT and GAMT, and specifi ...

Nature Research2021

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Yu Bai, René Uwe Schneider, Cédric Gobet

Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic evidence in mouse and Drosophila models suggests a gain-of ...

American Association for the Advancement of Science2021

Mitochondrial stress signalling and its impacts on physiology

Adrienne Joëlle Laurence Mottis

Mitochondria are responsible for respiration and energy harvesting across the eukaryotic kingdom. They also take part in other cellular processes like intermediary metabolism. As a result, mitochondrial function directly impacts organismal features such as ...

EPFL2018

Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Stephan Morgenthaler, Paul Refinetti

Background: The growth of tumor cells is accompanied by mutations in nuclear and mitochondrial genomes creating marked genetic heterogeneity. Tumors also contain non-tumor cells of various origins. An observed somatic mitochondrial mutation would have occu ...

BioMed Central2017

A Balance between Inhibitor Binding and Substrate Processing Confers Influenza Drug Resistance

Jeffrey David Jensen, Claudia Bank

The therapeutic benefits of the neuraminidase (NA) inhibitor oseltamivir are dampened by the emergence of drug resistance mutations in influenza A virus (IAV). To investigate the mechanistic features that underlie resistance, we developed an approach to qu ...

Academic Press Ltd- Elsevier Science Ltd2016

Inferring the age of a fixed beneficial allele

Jeffrey David Jensen, Matthieu Foll, Susanne Petra Pfeifer, Nicky Louise Ormond

Estimating the age and strength of beneficial alleles is central to understanding how adaptation proceeds in response to changing environmental conditions. Several haplotype-based estimators exist for inferring the age of segregating beneficial mutations. ...

Wiley-Blackwell2016

Deciphering the astrocyte-neuron metabolic cooperation in vivo

Manuel Raphael Zenger

Brain energy consumption is high and a very tightly regulated energy metabolism ensures correct performance. Neurons, the cells responsible for transmitting information via synapses, interact very closely with star shaped glial cells called astrocytes. Ast ...

EPFL2015

Type 5 adenylyl cyclase disruption leads to enhanced exercise performance

Johan Auwerx, Laurent Mouchiroud, Richardus Houtkooper, Jie Zhang

The most important physiological mechanism mediating enhanced exercise performance is increased sympathetic, beta adrenergic receptor (beta-AR), and adenylyl cyclase (AC) activity. This is the first report of decreased AC activity mediating increased exerc ...

Wiley-Blackwell2015

Shifting Fitness Landscapes In Response To Altered Environments

Jeffrey David Jensen, Claudia Bank

The role of adaptation in molecular evolution has been contentious for decades. Here, we shed light on the adaptive potential in Saccharomyces cerevisiae by presenting systematic fitness measurements for all possible point mutations in a region of Hsp90 un ...

Wiley-Blackwell2013

Alzheimer's disease mutations in APP but not γ-secretase modulators affect epsilon-cleavage-dependent AICD production

Matteo Dal Peraro, Freddy Radtke, Patrick Fraering, Mitko Dimitrov, Thomas Lemmin, Rajwinder Lehal, Jemila Houacine

Pathological amino-acid substitutions in the amyloid precursor protein (APP) and chemical gamma-secretase modulators affect the processing of APP by the gamma-secretase complex and the production of the amyloid-beta peptide A beta 42, the accumulation of w ...

Nature Publishing Group2013