Pancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer-related
death. Therapeutic options remain very limited and are based on classical chemotherapies …

Ferlin proteins participate in such diverse biological events as vesicle fusion in C. elegans,
fusion of myoblast membranes to form myotubes, Ca2+-sensing during exocytosis in the hair …

During inflammation, phagocytes release digestive enzymes from lysosomes to degrade
harmful cells such as pathogens and tumor cells. However, the molecular mechanisms …

Large scale whole-exome sequence studies have revealed that a number of individuals
from different populations have predicted loss-of-function of different genes due to …

Proteins of the ferlin family mediate calcium-dependent vesicular fusion. Although present
throughout eukaryotic evolution, their function in unicellular organisms including …

Ferlins are a family of calcium-sensitive proteins involved in fusion and fission membrane
trafficking events. There are six ferlin members: dysferlin, otoferlin, myoferlin, Fer1L4 …

In the first project functional studies in a new gene (TGS1) possible involved in Spinal
Muscular Atrophy pathogenesis were performed, while the second part of the thesis is about …

The muscular dystrophies are a heterogeneous group of over 30 genetic diseases which are
characterized by progressive weakening and deterioration of muscle tissue and which vary …