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Secondary osteoarthritis to ochronotic arthropathy - a diagnostic challenge.
Rev Assoc Med Bras (1992)
July 2018
Pathology, General Hospital Geral César Cals, Fortaleza, Ceará, Brasil.
Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project.
Osteoarthritis Cartilage
August 2018
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy. Electronic address:
Objective: The aim of this work was to assess baseline serum levels of established biomarkers related to inflammation and oxidative stress in samples from alkaptonuric subjects enrolled in SONIA1 (n = 40) and SONIA2 (n = 138) clinical trials (DevelopAKUre project).
Methods: Baseline serum levels of Serum Amyloid A (SAA), IL-6, IL-1β, TNFα, CRP, cathepsin D (CATD), IL-1ra, and MMP-3 were determined through commercial ELISA assays. Chitotriosidase activity was assessed through a fluorimetric method.
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.
Rheumatology (Oxford)
January 2017
Department of Medicine, Duke University School of Medicine, Duke Molecular Physiology Institute.
Objective: Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis.
View Article and Find Full Text PDFComparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress.
Int J Biochem Cell Biol
December 2016
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy. Electronic address:
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism associated with a defective catabolism of phenylalanine and tyrosine leading to increased systemic levels of homogentisic acid (HGA). Excess HGA is partly excreted in the urine, partly accumulated within the body and deposited onto connective tissues under the form of an ochronotic pigment, leading to a range of clinical manifestations. No clear genotype/phenotype correlation was found in AKU, and today there is the urgent need to identify biomarkers able to monitor AKU progression and evaluate response to treatment.
View Article and Find Full Text PDFChondroptosis in alkaptonuric cartilage.
J Cell Physiol
May 2015
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of treatment is palliative and little is known about AKU physiopathology. Chondroptosis, a peculiar type of cell death in cartilage, has been so far reported to occur in osteoarthritis, a rheumatic disease that shares some features with AKU.
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