Publications associées à Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Publications associées (35)

Towards Integrated Processing of Physiological Signals and Speech

Research in speech processing has largely focused on source-system modeling, where vocal fold vibrations serve as the source and the vocal cavity's articulations as the system. Nonetheless, speech production includes a complex combination of physiological ...

EPFL2025

The conceptual foundations of innate immunity: Taking stock 30 years later

Bruno Lemaitre

While largely neglected over decades during which adaptive immunity captured most of the attention, innate immune mechanisms have now become central to our understanding of immunology. Innate immunity provides the first barrier to infection in vertebrates, ...

2024

A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy

Jacques Fellay, Flavia Aurelia Shoko Hodel

Infectious agents contribute significantly to the global burden of diseases through both acute infection and their chronic sequelae. We leveraged the UK Biobank to identify genetic loci that influence humoral immune response to multiple infections. From 45 ...

2024

Single-cell analysis of the interactions between Mycobacterium tuberculosis and macrophages

Ophélie Rutschmann

Mycobacterium Tuberculosis is a highly effective pathogen infecting nearly a third of the world's population. An M. tuberculosis infection starts when droplets containing bacteria enter an individual's lungs. The first host cells to contact the bacteria ar ...

EPFL2024

Deep brain stimulation and suicide attempts in treatment-resistant patients: a case report and neuroethical analysis

Marcello Ienca

This case presents the situation of a 66-year-old woman diagnosed with Multiple System Atrophy Parkinsonian Type who underwent deep brain stimulation (DBS) therapy and subsequently made two suicide attempts. Despite receiving treatment and extensive psycho ...

FRONTIERS MEDIA SA2024

A comprehensive review on geomembrane systems application in hydropower

Giovanni De Cesare, Samuel Luke Vorlet

Geomembrane systems have been used at hydropower plants as rehabilitation and mitigation technology for several decades and are now used worldwide. In the context of planning an energy transition that promotes the sustainable use of water resources for ene ...

2024

Functional characterization of Drosophila melanogaster immune effectors

Alexia Laurie Carboni

Drosophila melanogaster, commonly known as the "fruit fly", is a genetically tractable model organism widely used to study biological processes, notably the innate immune system. The advent of novel genome editing technologies, such as the CRISPR-Cas9 syst ...

EPFL2023

The role of the NF-kappaB pathway in Amyotrophic lateral sclerosis pathogenesis

Emma Charlotta Källstig

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative motor disorder, which results in death within a few years of diagnosis. While the cause of most cases of ALS is unknown, 10% of cases are familial (fALS), and associated with mutations in one of ov ...

EPFL2023

Type I IFNs link skin-associated dysbiotic commensal bacteria to pathogenic inflammation and angiogenesis in rosacea

Alessio Mylonas

Rosacea is a common chronic inflammatory skin disease with a fluctuating course of excessive inflammation and apparent neovascularization. Microbial dysbiosis with a high density of Bacillus oleronius and increased activity of kallikrein 5, which cleaves c ...

AMER SOC CLINICAL INVESTIGATION INC2023

CSF-contacting neurons respond to Streptococcus pneumoniae and promote host survival during central nervous system infection

Ludovic Pierre Gustave Keiser

The pathogenic bacterium Streptococcus pneumoniae (S. pneumoniae) can invade the cerebrospinal fluid (CSF) and cause meningitis with devastating consequences. Whether and how sensory cells in the central nervous system (CNS) become activated during bacteri ...

CELL PRESS2023

Bacterial colonization in realistic environments: how mechanics impact biofilm formation in the wild and during infection

Tamara Rossy

A variety of physical inputs acts onto bacteria in nature. However, these are most often ignored in the studies of their physiology. There is now increasing evidence indicating that bacteria respond to physical stimuli, including mechanical forces. Yet, qu ...

EPFL2023

Influence of smoking on the healing of conservatively treated displaced midshaft clavicle fractures a systematic review and meta-analysis

Alexandre Terrier

Aims Tobacco, in addition to being one of the greatest public health threats facing our world, is believed to have deleterious effects on bone metabolism and especially on bone healing. It has been described in the literature that patients who smoke are ap ...

BRITISH EDITORIAL SOC BONE & JOINT SURGERY2023

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn(2B/-) spinal muscular atrophy mice

Bernard Schneider

Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse model. ...

Oxford University Press2023

Development of a novel Chimeric Antigen Receptor (CAR) for its use in Natural Killer (NK) cells for cancer treatment and beyond

Angela Madurga Alonso

The use of CAR technologies has revolutionized cancer treatment. Their unprecedented efficacy against B cell malignancies has opened the doors for a lot of excitement and research in the field. These synthetic receptors are composed of an antigen recogniti ...

EPFL2023

Designing self-tracking experiences: A qualitative study of the perceptions of barriers and facilitators to adopting digital health technology for automatic urine analysis at home

Nicolas Henchoz, Delphine Ribes Lemay, Emily Clare Groves, Andrea Regula Schneider, Margherita Motta

Self-tracking technologies open new doors to previously unimaginable scenarios. The diagnosis of diseases years in advance, or supporting the health of astronauts on missions to Mars are just some of many example applications. During the COVID-19 pandemic, ...

2023

Biofilm formation on human immune cells is a multicellular predation strategy of Vibrio cholerae

Sofya Mikhaleva, Alexandre Louis André Persat

Biofilm formation is generally recognized as a bacterial defense mechanism against environmental threats, including antibiotics, bacteriophages, and leukocytes of the human immune system. Here, we show that for the human pathogen Vibrio cholerae, biofilm f ...

CELL PRESS2023

Deconstructing and Reconstructing the Complexity of Tau pathology

Galina Limorenko

This thesis consists of four Chapters unified by a singular theme â how do we develop disease models that faithfully reproduce the pathology seen in patients suffering from neurodegenerative disorders associated with the Tau protein, such as Alzheimerâ ...

EPFL2023

Cecropins contribute to Drosophila host defense against a subset of fungal and Gram-negative bacterial infection

Bruno Lemaitre, Mark Austin Hanson, Alexia Laurie Carboni

Cecropins are small helical secreted peptides with antimicrobial activity that are widely distributed among insects. Genes encoding Cecropins are strongly induced upon infection, pointing to their role in host defense. In Drosophila, four cecropin genes cl ...

OXFORD UNIV PRESS INC2022

The combined impact of persistent infections and human genetic variation on C-reactive protein levels

Jacques Fellay, Flavia Aurelia Shoko Hodel, Olivier Noël Marie Naret

Multiple human pathogens establish chronic, sometimes life-long infections. Even if they are often latent, these infections can trigger some degree of local or systemic immune response, resulting in chronic low-grade inflammation. There remains an incomple ...

BMC2022

Host-Pathogen Interactions Through the Genomic Lens

Zhi Ming Xu

Hosts and pathogens are involved in a long-standing evolutionary arms race characterized by successive rounds of evolution. Specifically, while hosts evolve resistance against infections, pathogens adapt to re-establish virulence. Since the signatures of t ...

EPFL2023