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 |
| Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU | DOWNLOAD |
| Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria | DOWNLOAD |
| Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria | DOWNLOAD |
| Transient pockets as mediators of gas molecules routes inside proteins: Thecase study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development | DOWNLOAD |
| Cell and tissue models of alkaptonuria | DOWNLOAD |
| Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project | DOWNLOAD |
| Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease | DOWNLOAD |
| Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage | DOWNLOAD |
| Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots | DOWNLOAD |
| Homogentisic acid is not only eliminated by glomerular filtrationand tubular secretion but also produced in the kidney in alkaptonuria | DOWNLOAD |
| Efficacy and safety of once-daily nitisinone for patients withalkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial | DOWNLOAD |
| AKUImg: A database of cartilage images of Alkaptonuria patients | DOWNLOAD |
| Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria | DOWNLOAD |
| Homogentisic acid affects human osteoblastic functionalityby oxidative stress and alteration of the Wnt/β‐catenin signaling pathway | DOWNLOAD |
| Machine learning application for patient stratificationand phenotype/genotype investigation in a rare disease | DOWNLOAD |
| A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria | DOWNLOAD |
| Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria | DOWNLOAD |
| Machine learning application fordevelopment of a data-driven predictive model able to investigate quality of life scores in a rare disease | DOWNLOAD |
| Reduced primary cilia length and altered Arl13b expressionare associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria | DOWNLOAD |
