Caveolae are small, bulb-shaped plasma membrane invaginations. Mutations that ablate
caveolae lead to diverse phenotypes in mice and humans, making it challenging to uncover …

The limb-girdle muscular dystrophies (LGMDs) are a diverse group of genetic
neuromuscular conditions that usually manifest in the proximal muscles of the hip and …

Reaching the full potential of precision medicine depends on the quality of personalized
genome interpretation. In order to facilitate precision medicine in regions of the Middle East …

In the era of next generation sequencing, we are increasingly confronted with sequence
variants of unknown significance. Here, we focus on three patients carrying the sequence …

Limb Girdle Muscular Dystrophy (LGMDs) are a heterogeneous group of genetic disorders
in which mutations in the same gene display autosomal dominant or recessive inheritance …

The aim of this project was to systematically identify new interaction partners of the
dystrophin protein within differentiated human skeletal muscle cells in order to uncover new …

ABSTRACT A typical mammalian cell plasma membrane displays a high level of plasticity
counter balanced with stability. The plasma membrane show various kinds of invaginations …

The neurological channelopathies are a group of hereditary, episodic and frequently
debilitating diseases often caused by dysfunction of voltage-gated ion channels. This thesis …

Abstract Introduction: Midkine (MK), a novel cytokine, is upregulated in acute respiratory
distress syndrome (ARDS) patients. MK interacts with the cell surface receptor Notch2 to …

Acetylcholine (ACh) and serotonin are bronchoconstrictors clinically relevant in airway
diseases associated with airway hyperreactivity. Their receptors are incorporated in …