ArticleJournal of cellular physiology2012
Biochemical and proteomic characterization of alkaptonuric chondrocytes.
Article in Journal of cellular physiology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed, 54 citations in OpenAlex.
- HGA-Induced Oxidative Stress Impairs Autophagy via Lysosomal Dysfunction in Alkaptonuria.Antioxidants (Basel, Switzerland) · 2026Article
- Antioxidant Bio-Compounds from Chestnut Waste: A Value-Adding and Food Sustainability Strategy.Foods (Basel, Switzerland) · 2024Article
- An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.Journal of cellular physiology · 2024Article
- HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.Cells · 2024Article
- Review
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- One-stage revision arthroplasty in a patient with ochronotic arthropathy accompanied by joint infection: A case report.World journal of clinical cases · 2022Article
- A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria.Scientific reports · 2021Article
- Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.Journal of cellular physiology · 2017Article
- Angiogenesis in alkaptonuria.Journal of inherited metabolic disease · 2016Article
- Amyloidosis in alkaptonuria.Journal of inherited metabolic disease · 2015Review
- Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.Journal of inherited metabolic disease · 2015Review
- Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.Journal of inherited metabolic disease · 2015Article
- Chondroptosis in alkaptonuric cartilage.Journal of cellular physiology · 2015Article
- Diagnosis of secondary amyloidosis in alkaptonuria.Diagnostic pathology · 2014Article
- Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient.Mediators of inflammation · 2014Article
- Secondary amyloidosis in an alkaptonuric aortic valve.International journal of cardiology · 2014Article
- Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria.Rheumatology (Oxford, England) · 2013Article
- Alkaptonuria is a novel human secondary amyloidogenic disease.Biochimica et biophysica acta · 2012Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Alkaptonuria (AKU) is a rare genetic disease associated with the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products which leads to the deposition of melanin-like pigments (ochronosis) in connective tissues. Although numerous case reports have described ochronosis in joints, little is known on the molecular mechanisms leading to such a phenomenon. For this reason, we characterized biochemically chondrocytes isolated from the ochronotic cartilage of AKU patients. Based on the macroscopic appearance of the ochronotic cartilage, two sub-populations were identified: cells coming from the black portion of the cartilage were referred to as "black" AKU chondrocytes, while those coming from the white portion were referred to as "white" AKU chondrocytes. Notably, both AKU chondrocytic types were characterized by increased apoptosis, NO release, and levels of pro-inflammatory cytokines. Transmission electron microscopy also revealed that intracellular ochronotic pigment deposition was common to both "white" and "black" AKU cells. We then undertook a proteomic and redox-proteomic analysis of AKU chondrocytes which revealed profound alterations in the levels of proteins involved in cell defence, protein folding, and cell organization. An increased post-translational oxidation of proteins, which also involved high molecular weight protein aggregates, was found to be particularly relevant in "black" AKU chondrocytes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.