A-Team Università 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 Università degli Studi di Ubino Carlo Bo
Anastasia Ricci, Luca Galluzzi, Mauro Magnani and Michele Menotta
DDIT4 gene expression is switched on by a new HDAC4 function in ataxia telangiectasia
The FASEB JournalEarly View
First published: 08 December 2019
Menotta M, Orazi S, Gioacchini AM, Spapperi C, Ricci A, Chessa L, Magnani M.
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated
with Dexamethasone. PLoS One. 2018 Apr 2;13(4):e0195388. doi:
10.1371/journal.pone.0195388. eCollection 2018. PubMed PMID: 29608596; PubMed
Central PMCID: PMC5880408.
Leuzzi V, D'Agnano D, Menotta M, Caputi C, Chessa L, Magnani M.
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome
signature. Neurol Genet. 2018 Mar 27;4(2):e228. doi:
10.1212/NXG.0000000000000228. eCollection 2018 Apr. PubMed PMID: 29600275; PubMed
Central PMCID: PMC5873729.
Menotta M, Biagiotti S, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D,
Plebani A, Soresina A, Magnani M. In vivo effects of dexamethasone on blood gene
expression in ataxia telangiectasia. Mol Cell Biochem. 2018 Jan;438(1-2):153-166.
doi: 10.1007/s11010-017-3122-x. Epub 2017 Jul 25. PubMed PMID: 28744812.
Menotta M, Biagiotti S, Spapperi C, Orazi S, Rossi L, Chessa L, Leuzzi V,
D'Agnano D, Soresina A, Micheli R, Magnani M. ATM splicing variants as biomarkers
for low dose dexamethasone treatment of A-T. Orphanet J Rare Dis. 2017 Jul
5;12(1):126. doi: 10.1186/s13023-017-0669-2. PubMed PMID: 28679388; PubMed
Central PMCID: PMC5498894.
Menotta M, Biagiotti S, Bartolini G, Marzia B, Orazi S, Germani A, Chessa L,
Magnani M. Nano-Mechanical Characterization of Ataxia Telangiectasia Cells
Treated with Dexamethasone. Cell Biochem Biophys. 2017 Mar;75(1):95-102. doi:
10.1007/s12013-016-0775-0. Epub 2016 Dec 8. PubMed PMID: 27933465.
Biagiotti S, Menotta M, Orazi S, Spapperi C, Brundu S, Fraternale A, Bianchi
M, Rossi L, Chessa L, Magnani M. Dexamethasone improves redox state in ataxia
telangiectasia cells by promoting an NRF2-mediated antioxidant response. FEBS J.
2016 Nov;283(21):3962-3978. doi: 10.1111/febs.13901. Epub 2016 Oct 12. PubMed
PMID: 27636396.
Biagiotti S, Menotta M, Giacomini E, Radici L, Bianchi M, Bozzao C, Chessa L,
Magnani M. Forward subtractive libraries containing genes transactivated by
dexamethasone in ataxia-telangiectasia lymphoblastoid cells. Mol Cell Biochem.
2014 Jul;392(1-2):13-30. doi: 10.1007/s11010-014-2013-7. Epub 2014 Mar 14. PubMed
PMID: 24627244.
Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M. Dexamethasone
partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia
telangiectasia by promoting a shortened protein variant retaining kinase
activity. J Biol Chem. 2012 Nov 30;287(49):41352-63. doi:
10.1074/jbc.M112.344473. Epub 2012 Oct 10. PubMed PMID: 23055520; PubMed Central
PMCID: PMC3510833.
