Cystic fibrosis (CF) is a common (one affected newborn out of 2500), autosomic recessive, genetic disease in the white population and is due to mutations in the ABCC7 gene.
Endocytosis is the process used by eukaryotic cells to internalize molecules and particulate matter into vesicles.
The mitochondrial permeability transition (MPT) refers to an alteration of the permeability of the inner mitochondrial membrane and was characterized for the first time in 1979.
In the early 90’s one of the most fascinating mysteries of biology attracted my curiosity: the cell’s ability to commit suicide. In my view, the existence of a specific genetic program devoted to regulate the death of a cell is something, still exciting today. At that time identification of genes and the definition of the signaling pathways, controlling cell death was a sort of gold rush.
Which are the molecular mechanisms that cause the Down syndrome (DS) phenotype?