Glycosylation changes on glycoproteins may be indicative of pathological conditions due to diseases of social relevance as neurodegenerative disorders, tumors and autoimmune diseases. They also underlies specific genetic diseases such as congenital disorders of glycosylation (CDG).
Our research on of human serum N-glycome contributed to the characterization of three new specific CDG (MAN1B1-CDG, SLC35A3-CDG and DPM2-CDG), giving a valuable support to the comprehension of their relative complex molecular mechanisms. Glycosylation studies in serum samples from patients with galactosemia also led to a novel, broader evaluation of the pathological mechanism associated to such hereditary disease due to galactose accumulation in blood and tissues.
Our studies on CSF provided identification of potential glyco-biomarkers for neurodegenerative pathologies such as Alzheimer's disease (AD).
Further ongoing investigations are concerning biomarker standardization at the early phases of AD.
Our analytical strategy afforded a detailed mapping of N-linked glycans in human tear fluid. In control samples, more than 150 different glycans were detected and many of the most meaningful structures were identified by tandem mass spectrometry (MS/MS). Current studies are in progress aimed at definition of specific glycoforms as potential biomarkers in specific eye diseases such as atopic keratoconjunctivitis (AKC) and Vernal Kerato-conjunctivitis (VKC).
People to contact: Domenico Garozzo - Luisa Sturiale
Grants 2010-2015
FIRB MERIT (MEdical Research In Italy)
"EUROGLYCANET" EC Coordination Action
List of selected publication:
R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber.
DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy
Annals of Neurology 72, 550-558 (2012)
R.Barone, L.Sturiale, D.Garozzo
Mass spectrometry in the characterization of human genetic N-glycosylation defects
Mass Spectrometry Reviews 28(3), 517-542 (2009)
D.Rymen, R.Peanne, M.B.Millón, V.Race, L.Sturiale, D.Garozzo, P.Mills, P.Clayton, C.G.Asteggiano, D.Quelhas, A.Cansu, E.Martins, M.C.Nassogne, M.Gonçalves-Rocha, H.Topaloglu, J.Jaeken, F.Foulquier, G.Matthijs
MAN1B1 Deficiency: An Unexpected CDG-II
Plos Genetics 9, 1-13 (2013)
M.L.Giuffrida, F.Caraci, B.Pignataro, S.Cataldo, P.De Bona, V.Bruno, G.Molinaro, G.Pappalardo, A.Messina, A.Palmigiano, D.Garozzo, F.Nicoletti, E.Rizzarelli, A.Copani
β-Amyloid Monomers Are Neuroprotective
Journal of Neuroscience 29(34), 10582-10587 (2009)
A.Leonardi, A.Palmigiano, E.Mazzola, A.Messina, E.Milazzo, M.Bortolotti, D.Garozzo
Identification of human tear fluid biomarkers in vernal keratoconjunctivitis using iTRAQ quantitative proteomics
Allergy 69(2), 254-260 (2014)
S.Edvardson, A.Ashikov, C.Jalas, L.Sturiale, A.Shaag, A.Fedick, N.R.Treff, D.Garozzo, R.Gerardy-Schahn, O.Elpeleg
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
Journal of Medical Genetics 50(11), 733-739 (2013)
L.Sturiale, R.Barone, A.Palmigiano, C.N.Ndosimao, P.Briones, M.Adamowicz, J.Jaeken, D.Garozzo
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS
Proteomics 8(18), 3822-3832 (2008)
L.Sturiale, R.Barone, G.Sorge, M.Zaffanello, A.Fiumara, G.Impallomeni, D.Garozzo
Increased fucosylation and branching of serum transferrin N-glycans in long-term untreated Galactosemic patients
Glycobiology 14(11), 1154 (2004)
R.Barone , L.Sturiale, A.Palmigiano, M. Zappia, D.Garozzo
Glycomics of pediatric and adulthood diseases of the central nervous system
Journal of Proteomics 75, 5123-5139 (2012)
Top