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  1. Article ; Online: Foodomics for human health: current status and perspectives.

    Braconi, Daniela / Bernardini, Giulia / Millucci, Lia / Santucci, Annalisa

    Expert review of proteomics

    2017  Volume 15, Issue 2, Page(s) 153–164

    Abstract: Introduction: In the post-genomic era, the opportunity to combine and integrate cutting-edge analytical platforms and data processing systems allowed the birth of foodomics, 'a discipline that studies the Food and Nutrition domains through the ... ...

    Abstract Introduction: In the post-genomic era, the opportunity to combine and integrate cutting-edge analytical platforms and data processing systems allowed the birth of foodomics, 'a discipline that studies the Food and Nutrition domains through the application of advanced omics technologies to improve consumer's well-being, health, and confidence'. Since then, this discipline has rapidly evolved and researchers are now facing the daunting tasks to meet consumers' needs in terms of food traceability, sustainability, quality, safety and integrity. Most importantly, today it is imperative to provide solid evidence of the mechanisms through which food can promote human health and well-being. Areas covered: In this review, the complex relationships connecting food, nutrition and human health will be discussed, with emphasis on the relapses for the development of functional foods and nutraceuticals, personalized nutrition approaches, and the study of the interplay among gut microbiota, diet and health/diseases. Expert commentary: Evidence has been provided supporting the role of various omic platforms in studying the health-promoting effects of food and customized dietary interventions. However, although associated to major analytical challenges, only the proper integration of multi-omics studies and the implementation of bioinformatics tools and databases will help translate findings from clinical practice into effective personalized treatment strategies.
    MeSH term(s) Diet Therapy/methods ; Dietetics/methods ; Dietetics/trends ; Food Analysis/methods ; Humans ; Nutrigenomics/methods ; Proteomics/methods
    Language English
    Publishing date 2017-12-29
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2299100-1
    ISSN 1744-8387 ; 1478-9450
    ISSN (online) 1744-8387
    ISSN 1478-9450
    DOI 10.1080/14789450.2018.1421072
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway.

    Schiavone, Maria Lucia / Millucci, Lia / Bernardini, Giulia / Giustarini, Daniela / Rossi, Ranieri / Marzocchi, Barbara / Santucci, Annalisa

    Journal of cellular physiology

    2020  Volume 235, Issue 10, Page(s) 6808–6816

    Abstract: Alkaptonuria (AKU) is a rare disease correlated with deficiency of the enzyme homogentisate 1,2 dioxygenase, which causes homogentisic acid (HGA) accumulation. HGA is subjected to oxidation/polymerization reactions, leading to the production of a ... ...

    Abstract Alkaptonuria (AKU) is a rare disease correlated with deficiency of the enzyme homogentisate 1,2 dioxygenase, which causes homogentisic acid (HGA) accumulation. HGA is subjected to oxidation/polymerization reactions, leading to the production of a peculiar melanin-like pigmentation (ochronosis) after chronic inflammation, which is considered as a triggering event for the generation of oxidative stress. Clinical manifestations of AKU are urine darkening, sclera pigmentation, early severe osteoarthropathy, and cardiovascular and renal complication. Despite major clinical manifestations of AKU being observed in the bones and skeleton, the molecular and functional parameters are so far unknown in AKU. In the present study, we used human osteoblasts supplemented with HGA as a AKU cellular model. We observed marked oxidative stress, and for the first time, we were able to correlate HGA deposition with an impairment in the Wnt/β-catenin signaling pathway, opening a range of possible therapeutic strategies for a disease still lacking a known cure.
    MeSH term(s) Alkaptonuria/metabolism ; Bone and Bones/drug effects ; Bone and Bones/metabolism ; Cells, Cultured ; Homogentisic Acid/pharmacology ; Humans ; Inflammation/metabolism ; Melanins/metabolism ; Ochronosis/metabolism ; Osteoblasts/drug effects ; Osteoblasts/metabolism ; Oxidation-Reduction/drug effects ; Oxidative Stress/drug effects ; Pigmentation/drug effects ; Signal Transduction/drug effects ; Wnt Signaling Pathway/drug effects ; beta Catenin/metabolism
    Chemical Substances CTNNB1 protein, human ; Melanins ; beta Catenin ; Homogentisic Acid (NP8UE6VF08)
    Language English
    Publishing date 2020-01-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3116-1
    ISSN 1097-4652 ; 0021-9541
    ISSN (online) 1097-4652
    ISSN 0021-9541
    DOI 10.1002/jcp.29575
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Oxidative stress and mechanisms of ochronosis in alkaptonuria.

    Braconi, Daniela / Millucci, Lia / Bernardini, Giulia / Santucci, Annalisa

    Free radical biology & medicine

    2015  Volume 88, Issue Pt A, Page(s) 70–80

    Abstract: Alkaptonuria (AKU) is a rare metabolic disease due to a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD), involved in Phe and Tyr catabolism. Due to such a deficiency, AKU patients undergo accumulation of the metabolite homogentisic ... ...

    Abstract Alkaptonuria (AKU) is a rare metabolic disease due to a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD), involved in Phe and Tyr catabolism. Due to such a deficiency, AKU patients undergo accumulation of the metabolite homogentisic acid (HGA), which is prone to oxidation/polymerization reactions causing the production of a melanin-like pigment. Once the pigment is deposited onto connective tissues (mainly in joints, spine, and cardiac valves), a classical bluish-brown discoloration is imparted, leading to a phenomenon known as "ochronosis", the hallmark of AKU. A clarification of the molecular mechanisms for the production and deposition of the ochronotic pigment in AKU started only recently with a range of in vitro and ex vivo human models used for the study of HGA-induced effects. Thanks to redox-proteomic analyses, it was found that HGA could induce significant oxidation of a number of serum and chondrocyte proteins. Further investigations allowed highlighting how HGA-induced proteome alteration, lipid peroxidation, thiol depletion, and amyloid production could contribute to oxidative stress generation and protein oxidation in AKU. This review briefly summarizes the most recent findings on HGA-induced oxidative stress in AKU, helping in the clarification of the molecular mechanisms of ochronosis and potentially providing the basis for its pharmacological treatment. Future work should be undertaken in order to validate in vivo the results so far obtained in in vitro AKU models.
    MeSH term(s) Alkaptonuria/physiopathology ; Homogentisic Acid/metabolism ; Humans ; Ochronosis/etiology ; Ochronosis/physiopathology ; Oxidative Stress
    Chemical Substances Homogentisic Acid (NP8UE6VF08)
    Language English
    Publishing date 2015-02-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 807032-5
    ISSN 1873-4596 ; 0891-5849
    ISSN (online) 1873-4596
    ISSN 0891-5849
    DOI 10.1016/j.freeradbiomed.2015.02.021
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots.

    Jacomelli, Gabriella / Micheli, Vanna / Bernardini, Giulia / Millucci, Lia / Santucci, Annalisa

    JIMD reports

    2016  Volume 31, Page(s) 51–56

    Abstract: Objectives: Two methods are described for homogentisic acid (HGA) determination in dried urine spots (DUS) on paper from Alkaptonuria (AKU) patients, devised for quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of ... ...

    Abstract Objectives: Two methods are described for homogentisic acid (HGA) determination in dried urine spots (DUS) on paper from Alkaptonuria (AKU) patients, devised for quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, yielding in accumulation of HGA. Its massive excretion causes urine darkening by exposure to air or alkalinization, and is a diagnostic marker. The deposition of polymers produced after HGA oxidation within the connective tissues causes ochronotic arthritis, a degenerative joint disease manifesting in adulthood and only rarely in childhood. No early diagnosis is usually accomplished, awareness following symptom development.
    Design and methods: Two methods were designed for HGA determination in DUS: (1) a rapid semi-quantitative reliable method based on colour development in alkali and quantification by comparison with dried paper spots from HGA solutions of known concentration and (2) a quantitative and sensitive HPLC-linked method, previously devised for purine and pyrimidine analysis in urine and plasma.
    Results: Colour intensity developed by DUS after alkali addition was proportional to HGA concentration, and calculated amounts were in good agreement with quantitative analysis performed by RP-HPLC on DUS and on urines as such.
    Conclusions: DUS, often used for different diagnostic purpose, are easily prepared and safely delivered. The simple and quick colour method proposed provides reliable HGA assessment and is fit for large screening. HGA concentration determined in 10 AKU patient DUS by both methods 1 and 2 was in agreement with direct urine assay and in the range reported by literature.A reliable HGA quantification based on colour development in paper urine spots is validated by HPLC-linked HGA quantification, and proposed as a quick diagnostic tool for AKU patients.
    Language English
    Publishing date 2016-04-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2672872-2
    ISSN 2192-8312 ; 2192-8304
    ISSN (online) 2192-8312
    ISSN 2192-8304
    DOI 10.1007/8904_2016_554
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.

    Galderisi, Silvia / Milella, Maria Serena / Rossi, Martina / Cicaloni, Vittoria / Rossi, Ranieri / Giustarini, Daniela / Spiga, Ottavia / Tinti, Laura / Salvini, Laura / Tinti, Cristina / Braconi, Daniela / Millucci, Lia / Lupetti, Pietro / Prischi, Filippo / Bernardini, Giulia / Santucci, Annalisa

    Archives of biochemistry and biophysics

    2022  Volume 717, Page(s) 109137

    Abstract: Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues. Even though AKU is a multi-systemic disease, ...

    Abstract Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues. Even though AKU is a multi-systemic disease, osteoarticular cartilage is the most affected system and the most damaged tissue by the disease. In chondrocytes, HGA causes oxidative stress dysfunctions, which induce a series of not fully characterized cellular responses. In this study, we used a human chondrocytic cell line as an AKU model to evaluate, for the first time, the effect of HGA on autophagy, the main homeostasis system in articular cartilage. Cells responded timely to HGA treatment with an increase in autophagy as a mechanism of protection. In a chronic state, HGA-induced oxidative stress decreased autophagy, and chondrocytes, unable to restore balance, activated the chondroptosis pathway. This decrease in autophagy also correlated with the accumulation of ochronotic pigment, a hallmark of AKU. Our data suggest new perspectives for understanding AKU and a mechanistic model that rationalizes the damaging role of HGA.
    MeSH term(s) Alkaptonuria/metabolism ; Alkaptonuria/prevention & control ; Apoptosis/drug effects ; Autophagy/drug effects ; Biomarkers/metabolism ; Cartilage, Articular/drug effects ; Cell Line ; Chondrocytes/cytology ; Homogentisate 1,2-Dioxygenase/metabolism ; Homogentisic Acid/metabolism ; Homogentisic Acid/pharmacology ; Humans ; Ochronosis/metabolism ; Oxidative Stress/drug effects ; Signal Transduction
    Chemical Substances Biomarkers ; Homogentisate 1,2-Dioxygenase (EC 1.13.11.5) ; Homogentisic Acid (NP8UE6VF08)
    Language English
    Publishing date 2022-01-25
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 523-x
    ISSN 1096-0384 ; 0003-9861
    ISSN (online) 1096-0384
    ISSN 0003-9861
    DOI 10.1016/j.abb.2022.109137
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.

    Galderisi, Silvia / Cicaloni, Vittoria / Milella, Maria S / Millucci, Lia / Geminiani, Michela / Salvini, Laura / Tinti, Laura / Tinti, Cristina / Vieira, Otilia V / Alves, Liliana S / Crevenna, Alvaro H / Spiga, Ottavia / Santucci, Annalisa

    Journal of cellular physiology

    2021  Volume 236, Issue 8, Page(s) 6011–6024

    Abstract: Alkaptonuria (AKU) is an ultra-rare disease caused by the deficient activity of homogentisate 1,2-dioxygenase enzyme, leading the accumulation of homogentisic acid (HGA) in connective tissues implicating the formation of a black pigmentation called " ... ...

    Abstract Alkaptonuria (AKU) is an ultra-rare disease caused by the deficient activity of homogentisate 1,2-dioxygenase enzyme, leading the accumulation of homogentisic acid (HGA) in connective tissues implicating the formation of a black pigmentation called "ochronosis." Although AKU is a multisystemic disease, the most affected tissue is the articular cartilage, which during the pathology appears to be highly damaged. In this study, a model of alkaptonuric chondrocytes and cartilage was realized to investigate the role of HGA in the alteration of the extracellular matrix (ECM). The AKU tissues lost its architecture composed of collagen, proteoglycans, and all the proteins that characterize the ECM. The cause of this alteration in AKU cartilage is attributed to a degeneration of the cytoskeletal network in chondrocytes caused by the accumulation of HGA. The three cytoskeletal proteins, actin, vimentin, and tubulin, were analyzed and a modification in their amount and disposition in AKU chondrocytes model was identified. Cytoskeleton is involved in many fundamental cellular processes; therefore, the aberration in this complex network is involved in the manifestation of AKU disease.
    MeSH term(s) Actins/drug effects ; Actins/metabolism ; Alkaptonuria/metabolism ; Cartilage, Articular/drug effects ; Cartilage, Articular/metabolism ; Chondrocytes/drug effects ; Chondrocytes/metabolism ; Cytoskeleton/drug effects ; Cytoskeleton/metabolism ; Extracellular Matrix/drug effects ; Extracellular Matrix/metabolism ; Homogentisic Acid/pharmacology ; Humans ; Microtubules/drug effects ; Microtubules/metabolism ; Ochronosis/drug therapy ; Vimentin/drug effects ; Vimentin/metabolism
    Chemical Substances Actins ; Vimentin ; Homogentisic Acid (NP8UE6VF08)
    Language English
    Publishing date 2021-01-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3116-1
    ISSN 1097-4652 ; 0021-9541
    ISSN (online) 1097-4652
    ISSN 0021-9541
    DOI 10.1002/jcp.30284
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.

    Braconi, Daniela / Millucci, Lia / Ghezzi, Lorenzo / Santucci, Annalisa

    Expert review of proteomics

    2013  Volume 10, Issue 6, Page(s) 521–535

    Abstract: Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phenylalanine that has been poorly characterized at molecular level. As a genetic disease, AKU is present at birth, but its most severe manifestations are ... ...

    Abstract Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phenylalanine that has been poorly characterized at molecular level. As a genetic disease, AKU is present at birth, but its most severe manifestations are delayed due to the deposition of a dark-brown pigment (ochronosis) in connective tissues. The reasons for such a delayed manifestation have not been clarified yet, though several lines of evidence suggest that the metabolite accumulated in AKU sufferers (homogentisic acid) is prone to auto-oxidation and induction of oxidative stress. The clarification of the pathophysiological molecular mechanisms of AKU would allow a better understanding of the disease, help find a cure for AKU and provide a model for more common rheumatic diseases. With this aim, we have shown how proteomics and redox proteomics might successfully overcome the difficulties of studying a rare disease such as AKU and the limitations of the hitherto adopted approaches.
    MeSH term(s) Alkaptonuria/diagnosis ; Alkaptonuria/drug therapy ; Alkaptonuria/genetics ; Alkaptonuria/metabolism ; Antioxidants/therapeutic use ; Homogentisate 1,2-Dioxygenase/genetics ; Humans ; Oxidation-Reduction ; Oxidative Stress ; Proteomics
    Chemical Substances Antioxidants ; Homogentisate 1,2-Dioxygenase (EC 1.13.11.5)
    Language English
    Publishing date 2013-11-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2299100-1
    ISSN 1744-8387 ; 1478-9450
    ISSN (online) 1744-8387
    ISSN 1478-9450
    DOI 10.1586/14789450.2013.858020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: 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.

    Mitri, Elisa / Millucci, Lia / Merolle, Lucia / Bernardini, Giulia / Vaccari, Lisa / Gianoncelli, Alessandra / Santucci, Annalisa

    Biochimica et biophysica acta. General subjects

    2017  Volume 1861, Issue 5 Pt A, Page(s) 1000–1008

    Abstract: Background: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, ... ...

    Abstract Background: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, leading to a severe arthropathy. Secondary amyloidosis has been also unequivocally assessed as a comorbidity of AKU arthropathy. Composition of ochronotic pigment and how it is structurally related to amyloid is still unknown.
    Methods: We exploited Synchrotron Radiation Infrared and X-Ray Fluorescence microscopies in combination with conventional bio-assays and analytical tools to characterize chemical composition and morphology of AKU cartilage.
    Results: We evinced that AKU cartilage is characterized by proteoglycans depletion, increased Sodium levels, accumulation of lipids in the peri-lacunar regions and amyloid formation. We also highlighted an increase of aromatic compounds and oxygen-containing species, depletion in overall Magnesium content (although localized in the peri-lacunar region) and the presence of calcium carbonate fragments in proximity of cartilage lacunae.
    Conclusions: We highlighted common features between AKU and arthropathy, but also specific signatures of the disease, like presence of amyloids and peculiar calcifications. Our analyses provide a unified picture of AKU cartilage, shedding a new light on the disease and opening new perspectives.
    General significance: Ochronotic pigment is a hallmark of AKU and responsible of tissue degeneration. Conventional bio-assays have not yet clarified its composition and its structural relationship with amyloids. The present work proposes new strategies for filling the aforementioned gap that encompass the integration of new analytical approaches with standardized analyses.
    MeSH term(s) Alkaptonuria/metabolism ; Alkaptonuria/pathology ; Amyloidosis/metabolism ; Amyloidosis/pathology ; Cartilage/metabolism ; Cartilage/pathology ; Fluorescence ; Homogentisic Acid/metabolism ; Humans ; Lipids/physiology ; Magnesium/metabolism ; Microscopy/methods ; Pigments, Biological/metabolism ; Rare Diseases/metabolism ; Rare Diseases/pathology ; Spectroscopy, Fourier Transform Infrared/methods ; X-Rays
    Chemical Substances Lipids ; Pigments, Biological ; Magnesium (I38ZP9992A) ; Homogentisic Acid (NP8UE6VF08)
    Language English
    Publishing date 2017-02-09
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 60-7
    ISSN 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0304-4165 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-2596 ; 1879-260X ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0304-4165 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbagen.2017.02.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria

    Galderisi, Silvia / Milella, Maria Serena / Rossi, Martina / Cicaloni, Vittoria / Rossi, Ranieri / Giustarini, Daniela / Spiga, Ottavia / Tinti, Laura / Salvini, Laura / Tinti, Cristina / Braconi, Daniela / Millucci, Lia / Lupetti, Pietro / Prischi, Filippo / Bernardini, Giulia / Santucci, Annalisa

    Archives of biochemistry and biophysics. 2022 Mar. 15, v. 717

    2022  

    Abstract: Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues. Even though AKU is a multi-systemic disease, ...

    Abstract Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues. Even though AKU is a multi-systemic disease, osteoarticular cartilage is the most affected system and the most damaged tissue by the disease. In chondrocytes, HGA causes oxidative stress dysfunctions, which induce a series of not fully characterized cellular responses. In this study, we used a human chondrocytic cell line as an AKU model to evaluate, for the first time, the effect of HGA on autophagy, the main homeostasis system in articular cartilage. Cells responded timely to HGA treatment with an increase in autophagy as a mechanism of protection. In a chronic state, HGA-induced oxidative stress decreased autophagy, and chondrocytes, unable to restore balance, activated the chondroptosis pathway. This decrease in autophagy also correlated with the accumulation of ochronotic pigment, a hallmark of AKU. Our data suggest new perspectives for understanding AKU and a mechanistic model that rationalizes the damaging role of HGA.
    Keywords autophagy ; biophysics ; cartilage ; chondrocytes ; enzyme activity ; genetic disorders ; homeostasis ; humans ; mechanistic models ; oxidative stress
    Language English
    Dates of publication 2022-0315
    Publishing place Elsevier Inc.
    Document type Article
    ZDB-ID 523-x
    ISSN 1096-0384 ; 0003-9861
    ISSN (online) 1096-0384
    ISSN 0003-9861
    DOI 10.1016/j.abb.2022.109137
    Database NAL-Catalogue (AGRICOLA)

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  10. Article ; Online: AKUImg: A database of cartilage images of Alkaptonuria patients.

    Rossi, Alberto / Giacomini, Giorgia / Cicaloni, Vittoria / Galderisi, Silvia / Milella, Maria Serena / Bernini, Andrea / Millucci, Lia / Spiga, Ottavia / Bianchini, Monica / Santucci, Annalisa

    Computers in biology and medicine

    2020  Volume 122, Page(s) 103863

    Abstract: ApreciseKUre is a multi-purpose digital platform facilitating data collection, integration and analysis for patients affected by Alkaptonuria (AKU), an ultra-rare autosomal recessive genetic disease. We present an ApreciseKUre plugin, called AKUImg, ... ...

    Abstract ApreciseKUre is a multi-purpose digital platform facilitating data collection, integration and analysis for patients affected by Alkaptonuria (AKU), an ultra-rare autosomal recessive genetic disease. We present an ApreciseKUre plugin, called AKUImg, dedicated to the storage and analysis of AKU histopathological slides, in order to create a Precision Medicine Ecosystem (PME), where images can be shared among registered researchers and clinicians to extend the AKU knowledge network. AKUImg includes a new set of AKU images taken from cartilage tissues acquired by means of a microscopic technique. The repository, in accordance to ethical policies, is publicly available after a registration request, to give to scientists the opportunity to study, investigate and compare such precious resources. AKUImg is also integrated with a preliminary but accurate predictive system able to discriminate the presence/absence of AKU by comparing histopatological affected/control images. The algorithm is based on a standard image processing approach, namely histogram comparison, resulting to be particularly effective in performing image classification, and constitutes a useful guide for non-AKU researchers and clinicians.
    MeSH term(s) Alkaptonuria/diagnostic imaging ; Cartilage/diagnostic imaging ; Databases, Factual ; Ecosystem ; Humans ; Precision Medicine
    Language English
    Publishing date 2020-06-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 127557-4
    ISSN 1879-0534 ; 0010-4825
    ISSN (online) 1879-0534
    ISSN 0010-4825
    DOI 10.1016/j.compbiomed.2020.103863
    Database MEDical Literature Analysis and Retrieval System OnLINE

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