Publications related to The genetic background shapes the susceptibility to mitochondrial dysfunction and NASH progression

Related publications (22)

Epidemicity conditions in spatial models of infectious diseases

We review the work that has been conducted in the past years to understand when and why significant epidemics may arise even though a disease is not bound to become endemic in the long run i.e. subthreshold outbreaks. In particular, we describe the methods ...

2025

Structural basis of BAK sequestration by MCL-1 in apoptosis

Alexander Myasnikov, Emiko Uchikawa

Apoptosis controls cell fate, ensuring tissue homeostasis and promoting disease when dysregulated. The rate-limiting step in apoptosis is mitochondrial poration by the effector B cell lymphoma 2 (BCL-2) family proteins BAK and BAX, which are activated by i ...

2025

Basic Mechanisms of Immunometabolites in Shaping the Immune Response

Alexander Hooftman

Background Innate immune cells play a crucial role in responding to microbial infections, but their improper activation can also drive inflammatory disease. For this reason, their activation state is governed by a multitude of factors, including the metabo ...

Karger2023

Alpha-synuclein as a Potential Biomarker for Parkinson’s Disease and Other Synucleinopathies: Gaps, Challenges, and Opportunities

Hilal Lashuel, Pedro José Santana Ribeiro Magalhães

Parkinson's disease (PD), the second most common progressive neurodegenerative disease, develops and progresses for 10-15 years before the clinical diagnostic symptoms of the disease are manifested. Furthermore, several aspects of PD pathology overlap with ...

2022

Towards elucidating the structural and cellular determinants of a-synuclein seeding and toxicity

Somanath Jagannath

Although it has been nearly two and half decades since the discovery of alpha-synuclein (aSyn) as the major component of Lewy bodies (LBs), our understanding of the involvement of different aSyn species, their seeding, spreading and toxicity in Parkinson's ...

EPFL2022

Single-Particle Tracking and Trajectory Analysis of Fluorescent Nanodiamonds in Cell-Free Environment and Live Cells

Mayeul Sylvain Chipaux

Diamond magnetometry can provide new insights on the production of free radicals inside live cells due to its high sensitivity and spatial resolution. However, the measurements often lack intracellular context for the recorded signal. In this paper, the po ...

WILEY-V C H VERLAG GMBH2022

Alpha-synuclein research: defining strategic moves in the battle against Parkinson's disease

Hilal Lashuel

With the advent of the genetic era in Parkinson's disease (PD) research in 1997, alpha-synuclein was identified as an important player in a complex neurodegenerative disease that affects >10 million people worldwide. PD has been estimated to have an econom ...

NATURE RESEARCH2021

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Flavia Aurelia Shoko Hodel, Dylan Lawless

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Daniel Francis Schorderet

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...

2019

Inflammatory arthritis and systemic bone loss are attenuated by gastrointestinal helminth parasites

Nicola Harris, Mario Michael Zaiss, Manuel Kulagin

Infections with different helminth species have been observed to ameliorate a variety of chronic inflammatory diseases. Herein, we show that the natural murine helminth species, Heligmosomoides polygyrus bakeri (Hp) is capable of attenuating disease severi ...

Taylor & Francis2017

SOD1 silencing in motoneurons or glia rescues neuromuscular function in ALS mice

Patrick Aebischer, Bernard Schneider, Cylia Cloé Rochat, Christopher Towne, Elisabeth Anne Dirren, Julianne Bobela

Objective: Amyotrophic lateral sclerosis is an incurable disorder mainly characterized by motoneuron degeneration. Mutations in the superoxide dismutase 1 (SOD1) gene account for 20% of familial forms of the disease. Mutant SOD1 exerts multiple pathogenic ...

Wiley-Blackwell2015

The role of S129 phosphorylation in regulating the cellular properties and secretion of alpha-synuclein : implication for alpha-synuclein function in health and disease

Martial Mbefo Kamdem

EPFL2014

A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease

Protein acetylation, which is central to transcriptional control as well as other cellular processes, is disrupted in Huntington's disease (HD). Treatments that restore global acetylation levels, such as inhibiting histone deacetylases (HDACs), are effecti ...

Oxford University Press2014

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

Gene expression profiling of R6/2 transgenic mice with different CAG repeat lengths reveals genes associated with disease onset and progression in Huntington's disease

R6/2 transgenic mice with expanded CAG repeats (> 300) have a surprisingly prolonged disease progression and longer lifespan than prototypical parent R6/2 mice (carrying 150 CAGs); however, the mechanism of this phenotype amelioration is unknown. We compar ...

Elsevier2011

Self-Assembly of ß-Amyloid Peptides in Cells and on Solid Supports

Enrico Condemi

Neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and Huntington's disease share common mechanisms characterized by protein misfolding and aggregation, including formation of plaques or inclusion bodies. The rapid growing number o ...

EPFL2011

An Instrumented Timed Up and Go Test Characterizes Gait and Postural Transitions in Untreated Parkinson's Disease

Kamiar Aminian, Arash Salarian

BMJ Publishing Group2010

Dose optimization for long-term rAAV-mediated RNA interference in the nigrostriatal projection neurons

Patrick Aebischer

Short-hairpin RNA (shRNA)-mediated gene knockdown is a powerful tool for targeted gene silencing and an emerging novel therapeutic strategy. Recent publications, however, reported unexpected toxicity after utilizing viral-mediated shRNA knockdown in vivo. ...

2009

Structure and function of the molecular chaperone Hsp104 from yeast

Hilal Lashuel

The molecular chaperone Hsp104 plays a central role in the clearance of aggregates after heat shock and the propagation of yeast prions. Hsp104's disaggregation activity and prion propagation have been linked to its ability to resolubilize or remodel prote ...

Wiley-Blackwell2009

Buruli ulcer: reductive evolution enhances pathogenicity of Mycobacterium ulcerans

Stewart Cole

Buruli ulcer is an emerging human disease caused by infection with a slow-growing pathogen, Mycobacterium ulcerans, that produces mycolactone, a cytotoxin with immunomodulatory properties. The disease is associated with wetlands in certain tropical countri ...

2008