Publication

Mouse Systems Genetics as a Prelude to Precision Medicine

Publications associées (31)

Gene-by-environment modulation of lifespan and weight gain in the murine BXD family

Johan Auwerx, Evan Graehl Williams, Maroun Bou Sleiman, Pooja Jha

How lifespan and body weight vary as a function of diet and genetic differences is not well understood. Here we quantify the impact of differences in diet on lifespan in a genetically diverse family of female mice, split into matched isogenic cohorts fed a ...

NATURE PORTFOLIO2021

Overcoming microenvironmental resistance to PD-1 blockade in genetically engineered lung cancer models

Ioanna Keklikoglou, Nadine Fournier, Sina Nassiri, Etienne Meylan, Michele De Palma, Ece Kadioglu, Chiara Cianciaruso, Bruno Torchia, Gael Luis Boivin, Alan Nicolas Thierry Guichard, Amaia Martinez Usatorre

Immune checkpoint blockade (ICB) with PD-1 or PD-L1 antibodies has been approved for the treatment of nonsmall cell lung cancer (NSCLC). However, only a minority of patients respond, and sustained remissions are rare. Both chemotherapy and antiangiogenic d ...

AMER ASSOC ADVANCEMENT SCIENCE2021

The phase separation-dependent FUS interactome reveals nuclear and cytoplasmic function of liquid-liquid phase separation

Helen Lindsay

Liquid-liquid phase separation (LLPS) of proteins and RNAs has emerged as the driving force underlying the formation of membrane-less organelles. Such biomolecular condensates have various biological functions and have been linked to disease. The protein F ...

2021

SIRT7 modulates the stability and activity of the renal K-Cl cotransporter KCC4 through deacetylation

Olivier Staub, Johan Auwerx, Lilia Noriega Lopez, Dongryeol Ryu

SIRT7 is a NAD(+)-dependent deacetylase that controls important aspects of metabolism, cancer, and bone formation. However, the molecular targets and functions of SIRT7 in the kidney are currently unknown. In silico analysis of kidney transcripts of the BX ...

2021

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

Bernard Schneider

Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow in Smn(2B/-) mice ...

2020

Comprehensive analysis of PM20D1 QTL in Alzheimer's disease

Liliane Glauser, Johannes Gräff, Jose Vicente Sanchez Mut

Background Alzheimer's disease (AD) is a complex disorder caused by a combination of genetic and non-genetic risk factors. In addition, an increasing evidence suggests that epigenetic mechanisms also accompany AD. Genetic and epigenetic factors are not ind ...

2020

Study of brain metabolic dysfunctions in animal models of mood disorder using magnetic resonance spectroscopy

Antoine Timothée Cherix

Mood disorders, in particular depression, are a major burden of our society. Due to the poor knowledge of the biological basis of these diseases, classification remains based on arbitrary symptomatic parameters. As a result, the existing pharmacological tr ...

EPFL2020

FasR Regulates Fatty Acid Biosynthesis and Is Essential for Virulence of Mycobacterium tuberculosis

Stewart Cole, Claudia Sala

Mycobacterium tuberculosis, the etiologic agent of human tuberculosis, is the world's leading cause of death from an infectious disease. One of the main features of this pathogen is the complex and dynamic lipid composition of the cell envelope, which adap ...

Frontiers Media SA2020

Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B

Bernard Schneider, Paola Andrea Solanes Vega

Viral delivery of exogenous coding sequences into the inner ear has the potential for therapeutic benefit for patients suffering genetic or acquired hearing loss. To devise improved strategies for viral delivery, we investigated two injection techniques, r ...

2020

In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Paola Vagni

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

EPFL2020

Crosstalk between Drp1 phosphorylation sites during mitochondrial dynamics and metabolic adaptation

Miriam Valera Alberni

Mitochondria are highly dynamics organelles that undergo coordinated cycles of fission and fusion, referred to as mitochondrial dynamics. Mitochondrial dynamics regulate mitochondrial bioenergetics and allow cells to adapt to changing cellular stresses and ...

EPFL2020