Ferdinando Fiumara, University of Turin

Thursday, 22nd February – h. 14:00
Seminars Room, NICO

Ferdinando Fiumara, MD, PhD
Department of Neuroscience “Rita Levi Montalcini”, University of Turin

Physiological and pathological roles of homopolymeric amino acid repeats

Homopolymeric amino acid repeats (AARs) like polyglutamine (polyQ) and polyalanine (polyA) are physiologically present in several proteins, and their expansion owing to genetic mutations causes neurodegenerative and developmental disorders such as Huntington disease and cleidocranial dysplasia. These repetitive sequences have long been held as unstructured spacers, prone to misfolding and aggregation in their expanded form, but their physiological and pathological structures are only partially understood.

Our recent work indicates that polyQ, polyA, and other repeats can form supersecondary coiled coil structures regulating their physiological functions and triggering aggregation and toxicity in polyQ and polyA expansion diseases.

Host: Filippo Tempia