Lavori pubblicati dal gruppo di Siena grazie alle donazioni di campioni bioptici da parte dei pazienti
La ricerca sulle malattie rare non potrebbe procedere senza i campioni bioptici che i pazienti sottoposti ad operazioni hanno donato e donano. I campioni verrebbero mandati all'inceneritore, invece con la loro donazione possono aiutare a scoprire i meccanismi con cui agisce la malattia.
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria | DOWNLOAD |
Post-genomics of bone metabolic dysfunctions and neoplasias | DOWNLOAD |
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins | DOWNLOAD |
Redox proteomics gives insights into the role of oxidative stress in alkaptonuria | DOWNLOAD |
Oxidative stress and mechanisms of ochronosis in alkaptonuria | DOWNLOAD |
Comparative proteomics in alkaptonuria provides insights intoinflammation and oxidative stress | DOWNLOAD |
Proteomic and Redox-Proteomic Evaluation of Homogentisic Acid and Ascorbic Acid Effects on Human Articular Chondrocytes | DOWNLOAD |
Biochemical and Proteomic Characterization of Alkaptonuric Chondrocytes | DOWNLOAD |
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis | DOWNLOAD |
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis | DOWNLOAD |
ULTRASOUND ASSESSMENT OF JOINTS AND ENTHESIS IN A COHORT OF PATIENTS AFFECTED BY OCHRONOSIS: HOW MUCH IS COMMON THE INFLAMMATORY INVOLVEMENT? | DOWNLOAD |
Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signalling and primary cilium length in alkaptonuria | DOWNLOAD |
Cytoskeleton aberrations in alkaptonuric chondrocytes | DOWNLOAD |
Homogentisate 1,2 Dioxygenase is Expressed in Human Osteoarticular Cells: Implications in Alkaptonuria | DOWNLOAD |
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria | DOWNLOAD |
Alkaptonuria is a novel human secondary amyloidogenic disease | DOWNLOAD |
Histological and Ultrastructural Characterization of Alkaptonuric Tissues | DOWNLOAD |
Diagnosis of secondary amyloidosis in alkaptonuria | DOWNLOAD |
Angiogenesis in alkaptonuria | DOWNLOAD |
Secondary amyloidosis in an alkaptonuric aortic valve | DOWNLOAD |
Chondroptosis in Alkaptonuric Cartilage | DOWNLOAD |
Amyloidosis in alkaptonuria | DOWNLOAD |
Angiogenesis in alkaptonuria | DOWNLOAD |
Amyloidosis, Inflammation, and Oxidative Stress in the Heart of an Alkaptonuric Patient | DOWNLOAD |
A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease | DOWNLOAD |
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy | DOWNLOAD |
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) | DOWNLOAD |
4‑Hydroxyphenylpyruvate Dioxygenase and Its Inhibition in Plants and Animals | DOWNLOAD |
False proteinuria in patients with alkaptonuria | DOWNLOAD |
ApreciseKUre: an approach of Precision Medicine in a Rare Disease | DOWNLOAD |
Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria | DOWNLOAD |
A novel ex vivo organotypic culture model of alkaptonuria-ochronosis | DOWNLOAD |
Evaluation of Antioxiodant Drugs for the Treatment of Ochronotic Alkaptonuria in An In Vitro Human Cell Model | DOWNLOAD |
Development of an in vitro model to investigate joint ochronosis in alkaptonuria | DOWNLOAD |