Publication

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Publications associées (30)

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Hannes Bleuler, Mohamed Bouri, Solaiman Shokur, Jeremy Olivier, Amalric Louis Ortlieb, Romain Pierre François Baud, Jemina Fasola, Tristan Hubert Vouga

Exoskeletons are a perfect example of a mechatronics product. They illustrate the close integration and interdependence of mechanical design, drive train, sensors, control strategy and user interface. Recent developments of our lab will be discussed in det ...

SPRINGER INTERNATIONAL PUBLISHING AG2019

Metabolic implications of organelle-mitochondria communication

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Cellular organelles are not static but show dynamism-a property that is likely relevant for their function. In addition, they interact with other organelles in a highly dynamic manner. In this review, we analyze the proteins involved in the interaction bet ...

WILEY2019

Bioengineering the Human Muscle Stem-Cell Niche for Therapeutic Applications

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In spite of decades of research, no feasible method for obtaining sufficient numbers of uncommitted muscle stem cells (MuSCs) for therapy of degenerative muscle diseases exists. One of the most fundamental problems associated with stem cell therapy of musc ...

EPFL2019

ER-to-lysosome-associated degradation of proteasome-resistant ATZ polymers occurs via receptor-mediated vesicular transport

Maurizio Molinari, Paolo Paganetti

Maintenance of cellular proteostasis relies on efficient clearance of defective gene products. For misfolded secretory proteins, this involves dislocation from the endoplasmic reticulum (ER) into the cytosol followed by proteasomal degradation. However, po ...

2018

Autologous Cell Therapy Approach for Duchenne Muscular Dystrophy using PiggyBac Transposons and Mesoangioblasts

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Duchenne muscular dystrophy (DMD) is a lethal muscle-wasting disease currently without cure. We investigated the use of the PiggyBac transposon for full-length dystrophin expression in murine mesoangioblast (MABs) progenitor cells. DMD murine MABs were tra ...

CELL PRESS2018

An overview of cellular ultrastructure in benthic foraminifera: New observations of rotalid species in the context of existing literature

Anders Meibom, Charlotte Madeleine Nicole Lekieffre, Emmanuelle Geslin

We report systematic transmission electron microscope (TEM) observations of the cellular ultrastructure of selected, small rotalid benthic foraminifera. Nine species from different environments (intertidal mudflat, fjord, and basin) were investigated: Ammo ...

2018

Single-Vesicle Assays Using Liposomes and Cell-Derived Vesicles: From Modeling Complex Membrane Processes to Synthetic Biology and Biomedical Applications

Horst Vogel, Horst Pick, Ana Catarina Rodrigues Alves

The plasma membrane is of central importance for defining the closed volume of cells in contradistinction to the extracellular environment. The plasma membrane not only serves as a boundary, but it also mediates the exchange of physical and chemical inform ...

AMER CHEMICAL SOC2018

Lipid exchange and signaling at ER–Golgi contact sites

Meticulous observations of the cell perinuclear region where the Golgi and the endoplasmic reticulum (ER) networks intermingle have revealed close contact sites of barely 20 nm between these two organelles. Recent studies demonstrate that molecular machine ...

2018

Novice Shooters With Lower Pre-shooting Alpha Power Have Better Performance During Competition in a Virtual Reality Scenario

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Competition changes the environment for athletes. The difficulty of training for such stressful events can lead to the well-known effect of “choking” under pressure, which prevents athletes from performing at their best level. To study the effect of compet ...

Frontiers Media2018

Cytosolic delivery and characterization of monobodies interfering with SH2 domain-phosphotyrosine interactions

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Targeted cancer therapy is a very promising concept; however, small molecule inhibitors only exist for a limited number of oncoproteins and resistance development limits their clinical use. Different engineered non-antibody scaffolds are being explored to ...

EPFL2018