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

Publications associées (30)

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, Clara Bonnet

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

Type 1 piliated uropathogenic Escherichia coli hijack the host immune response by binding to CD14

Kathrin Tomasek

A key attribute of persistent or recurring bacterial infections is the ability of the pathogen to evade the host's immune response. Many Enterobacteriaceae express type 1 pili, a pre-adapted virulence trait, to invade host epithelial cells and establish pe ...

eLIFE SCIENCES PUBL LTD2022

Current challenges in understanding the role of enhancers in disease

Bart Deplancke

Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing eviden ...

NATURE PORTFOLIO2022

Astrocyte-targeting RNA interference against mutated superoxide dismutase 1 induces motoneuron plasticity and protects fast-fatigable motor units in a mouse model of amyotrophic lateral sclerosis

Patrick Aebischer, Bernard Schneider, Cylia Cloé Rochat, Nathalie Marie Géraldine Bernard

In amyotrophic lateral sclerosis (ALS) caused by SOD1 gene mutations, both cell-autonomous and noncell-autonomous mechanisms lead to the selective degeneration of motoneurons (MN). Here, we evaluate the therapeutic potential of gene therapy targeting mutat ...

WILEY2022

A Theory of Value for Service Ecosystems

Blagovesta Hristova Kostova

In this thesis, we present a theory of value for the design and analysis of service ecosystems. The theory is based on general systems thinking. The concept of a system is used for relating knowledge from different disciplines (such as software engineering ...

EPFL2022

How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections

Alessandro Borghesi

Background: Inborn errors of intrinsic and innate immunity constitute the focus of a growing research field that investigates the molecular mechanisms underlying susceptibility to infections previously not considered part of the spectrum of inborn errors o ...

ELSEVIER SCI LTD2022

Emerging dimensions of cellular cGAS-STING signaling

Andrea Ablasser, Baptiste Claude André Guey

The recognition of DNA through the cGAS-STING pathway plays a critical role in antiviral immunity, but can also drive maladaptive immune responses underlying several pathological conditions. Despite its importance, understanding the organization of cGAS-ST ...

2022

Engineering synthetic adhesins for biophysical investigation and rewiring of host-microbe interactions

Xavier Jean-Yves Pierrat

Host attachment is often a critical step in the onset of pathogenesis. To attach to host cells, bacteria have evolved a range of adhesins that bind to specific receptors. Some of these adhesins have been thoroughly characterized using biochemical technique ...

EPFL2022

The progressive loss of brain network fingerprints in Amyotrophic Lateral Sclerosis predicts clinical impairment

Enrico Amico, Antonella Romano

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by functional connectivity alterations in both motor and extra-motor brain regions. Within the framework of network analysis, fingerprinting represents a reliable approach to ...

ELSEVIER SCI LTD2022

Quality criteria for multi-domain studies in the indoor environment: Critical review towards research guidelines and recommendations

Mandana Sarey Khanie, Giorgia Chinazzo, Dolaana Khovalyg, Verena Marie Barthelmes, Matteo Favero

The perception, physiology, behavior, and performance of building occupants are influenced by multi-domain exposures: the simultaneous presence of multiple environmental stimuli, i.e., visual, thermal, acoustic, and air quality. Despite being extensive, th ...

PERGAMON-ELSEVIER SCIENCE LTD2022