Allestimento di modelli sperimentali di alcaptonuria e valutazione preclinica di agenti terapeutici per il trattamento dell’artropatia ocronotica
- 3 Anni 2010/2013
- 241.200€ Totale Fondi
L'alcaptonuria è una malattia rara a base genetica per la quale non esiste cura. E' asintomatica fino ai 40 anni circa, dopodichè rapidamente si manifestano problemi a vari organi, ma soprattutto a livello delle articolazioni. Abbiamo sviluppato modelli sperimentali umani su cui sperimentare nuovi farmaci e proponiamo la sperimentazione pre-clinica di acetilcisteina, un farmaco la cui sicurezza è garantita da oltre 40 anni di uso clinico e che potrebbe essere utilizzato anche nella prevenzione di bambini geneticamente affetti, nonché altri tipi di farmaci.
Pubblicazioni Scientifiche
- BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins
- BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Alkaptonuria is a novel human secondary amyloidogenic disease
- BIOFACTORS
Differentially activated Src kinase in chemo-naive human primary osteosarcoma cells and effects of a Src kinase inhibitor
- BMC MEDICAL INFORMATICS AND DECISION MAKING
ApreciseKUre: an approach of Precision Medicine in a Rare Disease
- CALCIFIED TISSUE INTERNATIONAL
Histological and Ultrastructural Characterization of Alkaptonuric Tissues
- CHEMMEDCHEM
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria
- COMPUTERS IN BIOLOGY AND MEDICINE
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria
- DIAGNOSTIC PATHOLOGY
Diagnosis of secondary amyloidosis in alkaptonuria
- EXPERT REVIEW OF PROTEOMICS
Redox proteomics gives insights into the role of oxidative stress in alkaptonuria
- FASEB JOURNAL
Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease
- FOOD MICROBIOLOGY
Surfome analysis of a wild-type wine Saccharomyces cerevisiae strain
- FREE RADICAL BIOLOGY AND MEDICINE
Oxidative stress and mechanisms of ochronosis in alkaptonuria
- INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress
- INTERNATIONAL JOURNAL OF CARDIOLOGY
Secondary amyloidosis in an alkaptonuric aortic valve
- JOURNAL OF BIOSCIENCES
Human platelet releasates combined with polyglycolic acid scaffold promote chondrocyte differentiation and phenotypic maintenance
- JOURNAL OF CELLULAR BIOCHEMISTRY
Proteomic and Redox-Proteomic Evaluation of Homogentisic Acid and Ascorbic Acid Effects on Human Articular Chondrocytes
- JOURNAL OF CELLULAR PHYSIOLOGY
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria
- JOURNAL OF CELLULAR PHYSIOLOGY
Biochemical and proteomic characterization of alkaptonuric chondrocytes
- JOURNAL OF CELLULAR PHYSIOLOGY
Chondroptosis in Alkaptonuric Cartilage
- JOURNAL OF CELLULAR PHYSIOLOGY
Establishment of Four New Human Primary Cell Cultures from Chemo-Naive Italian Osteosarcoma Patients
- JOURNAL OF CELLULAR PHYSIOLOGY
Cytoskeleton Aberrations in Alkaptonuric Chondrocytes
- JOURNAL OF CELLULAR PHYSIOLOGY
Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria
- JOURNAL OF CELLULAR PHYSIOLOGY
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria
- JOURNAL OF CELLULAR PHYSIOLOGY
Novel smoothened antagonists as anti-neoplastic agents for the treatment of osteosarcoma
- JOURNAL OF INHERITED METABOLIC DISEASE
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis
- JOURNAL OF INHERITED METABOLIC DISEASE
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria
- JOURNAL OF INHERITED METABOLIC DISEASE
Amyloidosis in alkaptonuria
- JOURNAL OF INHERITED METABOLIC DISEASE
Angiogenesis in alkaptonuria
- MEDIATORS OF INFLAMMATION
Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient
- RHEUMATOLOGY
Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria
