Fondazione Santa Lucia IRCCS

Molecular and Cellular Neurobiology Lab

Areas of Investigation 

The Laboratory of Molecular and Cellular Neurobiology analyzes the molecular mechanisms of amyotrophic lateral sclerosis (ALS) and Ewing's sarcoma. The studies are focused on the different aspects related to the metabolism of ribonucleic acid (RNA). The objective is to understand the gene regulation that occurs subsequent to the messenger RNA transcript (mRNA) and the impact of signal transduction mechanisms on the latter.


Ewing's Sarcoma

Ewing's sarcoma is a cancer that originates in the bones and soft tissues. It is found mainly in children and adolescents. From the genetic point of view, it is characterized by translocations involving chromosomes 11 and 22. The chromosomal translocations represent alterations in the structure of chromosomes, resulting from an exchange of non-homologous chromosomes. This leads to the production of an aberrant protein, which activates the tumor transformation process. Laboratory studies aim to identify the mechanisms of transcription and post-transcription subtended to the gene expression of aberrant protein (EWS-FLI1 protein). The goal is to identify the molecular targets of this potent oncogene.


Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease and, although most of its manifestations are sporadic, about 10 percent can be traced to a genetic cause. Recent studies have shown that mutations of genes involved in the metabolism of RNA play a crucial role in the development of the disease. Through DNA sequencing techniques based on automated scientific analysis (high-throughput) Laboratory studies the role of these genes and aims to identify their molecular targets in order to develop new therapeutic approaches.


Muscle repair

Laboratory research involves also the purification of satellite cells, which promote muscle repair, and the fibro-adipogeneici precursors, which allowed to identify the molecular mechanisms crucial for muscle differentiation. The alteration of gene expression is the basis of many diseases. The same fibro adipogenic precursors, when they lose their ability to regenerate muscle for molecular alteration, play a decisive role in the progression of Duchenne muscular dystrophy. Our research thus far allows us to identify molecular targets involved in the regulation of gene expression at the base of muscle diseases.

Acquired Patents 
  • Dominant negative mutants of Sam68 for use in the treatment of spinal muscular atrophy (SMA) Applicaton # 20120071415 - Class: 514177 (USPTO); Paronetto MP and Pedrotti S 2012
  • Peptidic and peptidomimetic compounds for regulating authophagy. Applicaton # 20110281804 - Class: 514 / 17.8 (USPTO); Paronetto MP, Fimia GM and Di Bartolomeo S 2011
  • Foro Italico University of Rome (Italy)
Ongoing Research Projects 
  • Co-transcriptional regulation of gene expression by EWS and EWS‐FLI1 in the pathogenesis of Ewing Sarcoma
  • Regulation of alternative pre-mRNA processing in the pathogenesis of Ewing’s Sarcoma

Laboratory of Molecular and Cellular Neurobiology

Fondazione Santa Lucia Irccs

Via del Fosso di Fiorano, 64 00143 Rome

European Centre for Brain Research (CERC) – Floor 3 – Room 307