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