About

Alternative splicing is a posttranscriptional mechanism that explains how individual genes can produce more than one transcript due to the inclusion or exclusion of specific regions originating multiple protein isoforms with diverse features. More than 90% of human genes undergo alternative splicing. This high prevalence raises the question of how developmental stage- and tissue-specific splicing influence protein function and how this regulation occurs.

In our lab we are interested on how alternative splicing regulates the expression of trafficking and membrane dynamics proteins in normal development and diseases. A second angle of the lab is how alternative splicing impacts on the functions of these proteins and thus in internal cell architecture and physiology. We are initially focused on striated muscles (heart and skeletal muscle) because we found that trafficking and membrane dynamics genes are regulated by splicing specifically in these tissues and some of them also in brain. Misregulation of membrane trafficking proteins is one hallmark of muscle and brain disorders. In particular, striated muscle cells have contractility primordial functions that require a very precise formation and maintenance of internal architecture through membrane invagination and trafficking processes. Receptors and ion channels need to be correctly transported to these locations to exert their key functions. We are studying the crosstalk between alternative splicing and membrane trafficking and its contribution to the maturation and maintenance of the myocyte exquisite architecture and functions.

Our lab utilizes a broad spectrum of approaches ranging from molecular biology, cell biology, and physiology techniques including animal models.