Our   team   investigates   the   human   genetic   disorder,   ataxia-telangiectasia   (A-T).   A-T is   a   multisystem   genome   instability   syndrome.   It   involves   cerebellar   degeneration that     leads     to     progressive     neuromotor     dysfunction,               immunodeficiency, chromosomal   instability,   cancer   predisposition,   and   acute   sensitivity   to   agents that   induce   double-strand   breaks   (DSBs)   in   the   DNA.   A–T   is   caused   by   mutations   in the   ATM   (ATM   serine/threonine   kinase   or   ataxia–telangiectasia   mutated)   gene, which   was   cloned   in   1995.   ATM   is   located   on   human   chromosome   11   (11q22.3)   and is made up of 69 exons spread across 150kb of genomic DNA. We     are     principally     focused     on     the     biomolecular     mechanism     of     action     of dexamethasone   since   several   evidences   demonstrated   its   benefit   in   patients   with A-T, but also the overall ATM signaling and new ATM functions are studied. The team: Mauro Magnani Full professor in biochemistry link Michele Menotta Ph.D. Adjunct professor in Proteomics and Biochemical Methodologies link Anastasia Ricci   Ph.D. student Federica Biancucci Fellowship student Past collaborators: Sara Orazi Ph.D. Chiara Spapperi Fellowship
A-Team    UniversitÓ  degli Studi di Ubino Carlo Bo
Our   team   investigates   the   human   genetic   disorder, ataxia-telangiectasia     (A-T).     A-T     is     a     multisystem genome   instability   syndrome.   It   involves   cerebellar degeneration   that   leads   to   progressive   neuromotor dysfunction,                  immunodeficiency,      chromosomal instability,       cancer       predisposition,       and       acute sensitivity     to     agents     that     induce     double-strand breaks   (DSBs)   in   the   DNA.   A–T   is   caused   by   mutations in      the      ATM      (ATM      serine/threonine      kinase      or ataxia–telangiectasia     mutated)     gene,     which     was cloned      in      1995.      ATM      is      located      on      human chromosome   11   (11q22.3)   and   is   made   up   of   69   exons spread across 150kb of genomic DNA. We     are     principally     focused     on     the     biomolecular mechanism   of   action   of   dexamethasone   since   several evidences   demonstrated   its   benefit   in   patients   with A-T,   but   also   the   overall   ATM   signaling   and   new   ATM functions are studied. The team: Mauro Magnani Full professor in biochemistry link Michele Menotta Ph.D.       Adjunct       professor       in       Proteomics       and Biochemical Methodologies link Anastasia Ricci   Ph.D. student Federica Biancucci Fellowship student Past collaborators: Sara Orazi Ph.D. Chiara Spapperi Fellowship
A-Team   UniversitÓ  degli Studi di Ubino  Carlo Bo