Presentazione:

BIOLOGIST
SC Neurologia 4 - Neuroimmunologia e Malattie Neuromuscolari
(italian version)

 

From 2004 till 2008 I was a fellow at the National Neurological Institute “C. Besta”, at the Neuromuscular Unit, mainly focusing on the study of congenital muscular pathologies such as dystroglycanopathies.

 

Research activity

From 2008 till 2013, I became researcher at The Hospital for Sick Children in Toronto, where my interests moved towards the study of the autophagic vacuolar myopathies such as the Myopathy X-linked with excessive autophagy (XMEA), the DNAJB6-related Myopathies and the Vacuolar Myopathy with CASQ1 aggregates.

During this period I’ve also started my research for the identification of the gene responsible for a Dominant Autosomic Distal Myopathy presenting with autophagic vacuoles. Since 2014 I’ve moved back to the National Neurological Institute “C. Besta”, continuing the study of this disease and identifying the gene involved, by applying a multi-omic approach, also thanks to the collaborations I was able to establish during my research period in Canada.

The identification of a coding expansion in the PLIN4 gene sparked my interest in the study of the aggrephagy pathway that is activated in this disorder. In order to better characterize this activation and intervene on the formation of perilipin 4 protein aggregates, I’m focusing on the generation of a cellular model as well as on the analysis of the patients’ adipocytes differentiated from the Mesenchymal Stem Cells (MSC).

Moreover, I’m interested in studying the aggrephagy activation in Myofibrillar Myopathies, a group of muscle diseases likewise characterized by protein aggregation and autophagic vacuoles.

 

Topics of interest

• Vacuolar myopathies
• Protein aggregates
• Aggrephagy

 

 

Contacts

+39 02.2394.4509 - 4653 

email: alessandra.ruggieri@istituto-besta.it