Publications related to Altered expression of beta-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knockout mouse model of Leber's congenital amaurosis

Mechanism of KRAS-driven T cell infiltration in colorectal cancer

Colorectal cancer is the second-leading cause of cancer death worldwide. Early-stage disease can be detected with preventative medical screening and is treatable with surgical resection. Sixty-percent of patients, however, are diagnosed with advanced-stage ...

EPFL2023

Upregulation of the ERR γ-VDAC1 axis underlies the molecular pathogenesis of pancreatitis

Johan Auwerx, Changmyung Oh, Jiale Wang

Emerging evidence suggest that transcription factors play multiple roles in the development of pancreatitis, a necroinflammatory condition lacking specific therapy. Estrogen-related receptor γ (ERRγ), a pleiotropic transcription factor, has been reported t ...

National Academy of Sciences2023

Kidney-Specific Membrane-Bound Serine Proteases CAP1/Prss8 and CAP3/St14 Affect ENaC Subunit Abundances but Not Its Activity

Simona Frateschi, Sévan Stroh

The serine proteases CAP1/Prss8 and CAP3/St14 are identified as ENaC channel-activating proteases in vitro, highly suggesting that they are required for proteolytic activation of ENaC in vivo. The present study tested whether CAP3/St14 is relevant for rena ...

MDPI2023

Brain mitochondrial diversity and network organization predict anxiety-like behavior in male mice

Maria del Carmen Sandi Perez

The brain and behavior are under energetic constraints, limited by mitochondrial energy transformation capacity. However, the mitochondria-behavior relationship has not been systematically studied at a brain-wide scale. Here we examined the association bet ...

Nature Research2023

Incomplete Recovery of Zebrafish Retina Following Cryoinjury

Dylan Lawless

Zebrafish show an extraordinary potential for regeneration in several organs from fins to central nervous system. Most impressively, the outcome of an injury results in a near perfect regeneration and a full functional recovery. Indeed, among the various i ...

MDPI2022

In Vivo Retinal Pigment Epithelium Imaging using Transscleral Optical Imaging in Healthy Eyes

Christophe Moser, Mathieu Künzi, Timothé Laforest, Laura Emmanuelle Kowalczuk

Objective: To image healthy retinal pigment epithelial (RPE) cells in vivo using Transscleral OPtical Imaging (TOPI) and to analyze statistics of RPE cell features as a function of age, axial length (AL), and eccentricity. Design: Single-center, explorator ...

ELSEVIER2022

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

Chromatin Proteomics to Study Epigenetics - Challenges and Opportunities

Guido Van Mierlo

Regulation of gene expression is essential for the functioning of all eukaryotic organisms. Understanding gene expression regulation requires determining which proteins interact with regulatory elements in chromatin. MS-based analysis of chromatin has emer ...

AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC2021

Follicular regulatory helper T cells control the response of regulatory B cells to a high-cholesterol diet

Nikolaos Stergiopoulos

Aims B cell functions in the process of atherogenesis have been investigated but several aspects remain to be clarified. ...

OXFORD UNIV PRESS2021

Parkinson mice show functional and molecular changes in the gut long before motoric disease onset

Hilal Lashuel, Yang Liu

Background: There is increasing evidence that Parkinson's disease (PD) might start in the gut, thus involving and compromising also the enteric nervous system (ENS). At the clinical onset of the disease the majority of dopaminergic neurons in the midbrain ...

2021

Post-translational regulation of neuronal differentiation

Jaipreet Singh Loomba

Glycosphingolipids (GSLs) are amphipathic lipid moieties that make up only 3% of the total lipid content of the cell and are almost exclusively expressed at the Plasma Membrane(PM). They are key drivers of signalling hotspots known as â lipid-raftsâ as ...

EPFL2021

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

Fully automated detection, segmentation, and analysis of in vivo RPE single cells

Christophe Moser, Timothé Laforest, Florentino Luciano Caetano Dos Santos, Laura Emmanuelle Kowalczuk

Objective To develop a fully automated method of retinal pigmented epithelium (RPE) cells detection, segmentation and analysis based on in vivo cellular resolution images obtained with the transscleral optical phase imaging method (TOPI). Methods Fourteen ...

NATURE PUBLISHING GROUP2021

Transscleral optical phase imaging of the human retina

Christophe Moser, Dino Carpentras, Timothé Laforest, Laura Emmanuelle Kowalczuk

In vivo observation of the human retina at the cellular level is crucial to detect the first signs of retinal diseases and properly treat them. Despite the phenomenal advances in adaptive optics systems, clinical imaging of many retinal cells is still elus ...

Nature Publishing Group2020

Single particle cryo‐EM of the complex between interphotoreceptor retinoid‐binding protein and a monoclonal antibody

Henning Paul-Julius Stahlberg, Andreas Engel

Interphotoreceptor retinoid‐binding protein (IRBP) is a highly expressed protein secreted by rod and cone photoreceptors that has major roles in photoreceptor homeostasis as well as retinoid and polyunsaturated fatty acid transport between the neural retin ...

2020

Optical phase contrast imaging of human retinal cells by changing the tissue refractive index

Christophe Moser, Mathieu Künzi, Timothé Laforest, Laura Emmanuelle Kowalczuk

Purpose : Based on oblique partially coherent illumination of transparent samples, we developed a simple custom Optical Phase Imaging (OPI) microscope providing a label-free, semi-quantitative phase contrast imaging. The aim of this study was to explore th ...

ASSOC RESEARCH VISION OPHTHALMOLOGY INC2020

Mouse Systems Genetics as a Prelude to Precision Medicine

Johan Auwerx, Hao Li

Mouse models have been instrumental in understanding human disease biology and proposing possible new treatments. The precise control of the environment and genetic composition of mice allows more rigorous observations, but limits the generalizability and ...

2020

The Appearance of the Warburg Effect in the Developing Avian Eye Characterized In Ovo: How Neurogenesis Can Remodel Neuroenergetics

Rolf Gruetter, Carole Poitry-Yamate, Laurent Brodier, Antoine Timothée Cherix

PURPOSE. The avian eye is an established model for exploring mechanisms that coordinate morphogenesis and metabolism during embryonic development. Less is known, however, about trafficking of bioenergetic and metabolic signaling molecules that are involved ...

2020

Macrophage NCOR1 Deficiency Ameliorates Myocardial Infarction and Neointimal Hyperplasia in Mice

Johan Auwerx, Hongwei Zhu, Yan Liu, Yuan Liu, Shuai Shao

Background NCOR1 (nuclear receptor corepressor 1) is an essential coregulator of gene transcription. It has been shown that NCOR1 in macrophages plays important roles in metabolic regulation. However, the function of macrophage NCOR1 in response to myocard ...

2020

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