Set up of experimental models of alkaptonuria and preclinical testing of therapeutic agents for the treatment of ochronotic arthropathy
- 3 Years 2010/2013
- 241.200€ Total Award
Alkaptonuria is a rare genetic disease with no cure. First asymptomatic, at the age of 40 severe articular problems may occur. We developed experimental models to test new drugs and propose the pre-clinical trial with acetylcysteine, a drug whose safety is guaranteed by 40 years of clinical use, as well as other types of drugs. This therapeutic could also prevent the onset of symptoms in genetically affected children.
Scientific Publications
- 2010 JOURNAL OF CELLULAR BIOCHEMISTRY
Proteomic and Redox-Proteomic Evaluation of Homogentisic Acid and Ascorbic Acid Effects on Human Articular Chondrocytes
- 2015 JOURNAL OF INHERITED METABOLIC DISEASE
Amyloidosis in alkaptonuria
- 2015 Journal of cellular physiology
Chondroptosis in Alkaptonuric Cartilage
- 2012 Journal of cellular physiology
Biochemical and proteomic characterization of alkaptonuric chondrocytes
- 2011 JOURNAL OF INHERITED METABOLIC DISEASE
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis
- 2012 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Alkaptonuria is a novel human secondary amyloidogenic disease
- 2014 MEDIAT INFLAMM
Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient
- 2014 DIAGNOSTIC PATHOLOGY
Diagnosis of secondary amyloidosis in alkaptonuria
- 2015 Journal of cellular physiology
Establishment of Four New Human Primary Cell Cultures from Chemo-Naive Italian Osteosarcoma Patients
- 2015 JOURNAL OF INHERITED METABOLIC DISEASE
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria
- 2015 J BIOSCIENCES
Human platelet releasates combined with polyglycolic acid scaffold promote chondrocyte differentiation and phenotypic maintenance
- 2013 RHEUMATOLOGY
Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria
- 2014 INTERNATIONAL JOURNAL OF CARDIOLOGY
Secondary amyloidosis in an alkaptonuric aortic valve
- 2017 Biochim Biophys Acta.
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
- 2012 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Alkaptonuria is a novel human secondary amyloidogenic disease.
- 2015 FREE RADICAL BIOLOGY AND MEDICINE
Oxidative stress and mechanisms of ochronosis in alkaptonuria
- 2013 Expert Review of Proteomics
Redox proteomics gives insights into the role of oxidative stress in alkaptonuria
- 2011 FOOD MICROBIOLOGY
Surfome analysis of a wild-type wine Saccharomyces cerevisiae strain
- 2012 Journal of cellular physiology
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria
