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  1. Article: Redefining infantile-onset multisystem phenotypes of coenzyme Q

    Berardo, Andres / Quinzii, Catarina M

    Journal of translational genetics and genomics

    2020  Volume 4, Page(s) 22–35

    Abstract: Primary coenzyme ... ...

    Abstract Primary coenzyme Q
    Language English
    Publishing date 2020-04-23
    Publishing country United States
    Document type Journal Article
    ISSN 2578-5281
    ISSN 2578-5281
    DOI 10.20517/jtgg.2020.02
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies.

    Pesini, Alba / Hidalgo-Gutierrez, Agustin / Quinzii, Catarina M

    Antioxidants (Basel, Switzerland)

    2022  Volume 11, Issue 4

    Abstract: Coenzyme Q (CoQ) is a conserved polyprenylated lipid composed of a redox-active benzoquinone ring and a long polyisoprenyl tail that serves as a membrane anchor. CoQ biosynthesis involves multiple steps, including multiple modifications of the precursor ... ...

    Abstract Coenzyme Q (CoQ) is a conserved polyprenylated lipid composed of a redox-active benzoquinone ring and a long polyisoprenyl tail that serves as a membrane anchor. CoQ biosynthesis involves multiple steps, including multiple modifications of the precursor ring 4-hydroxybenzoic acid. Mutations in the enzymes involved in CoQ biosynthesis pathway result in primary coenzyme Q deficiencies, mitochondrial disorders whose clinical heterogenicity reflects the multiple biological function of CoQ. Patients with these disorders do not always respond to CoQ supplementation, and CoQ analogs have not been successful as alternative approaches. Progress made in understanding the CoQ biosynthesis pathway and studies of supplementation with 4-hydroxybenzoic acid ring analogs have opened a new area in the field of primary CoQ deficiencies treatment. Here, we will review these studies, focusing on efficacy of the different 4-hydroxybenzoic acid ring analogs, models in which they have been tested, and their mechanisms of action. Understanding how these compounds ameliorate biochemical, molecular, and/or clinical phenotypes of CoQ deficiencies is important to develop the most rational treatment for CoQ deficient patients, depending on their molecular defects.
    Language English
    Publishing date 2022-03-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2704216-9
    ISSN 2076-3921
    ISSN 2076-3921
    DOI 10.3390/antiox11040665
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  3. Article: Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction.

    Quinzii, Catarina M / Lopez, Luis C

    Journal of advanced research

    2020  Volume 27, Page(s) 79–84

    Abstract: Background: Mitochondrial disorders are genetic diseases for which therapy remains woefully inadequate. Therapy of these disorders is particularly challenging partially due to the heterogeneity and tissue-specificity of pathomechanisms involved in these ...

    Abstract Background: Mitochondrial disorders are genetic diseases for which therapy remains woefully inadequate. Therapy of these disorders is particularly challenging partially due to the heterogeneity and tissue-specificity of pathomechanisms involved in these disorders. Abnormalities in hydrogen sulfide (H
    Aim of review: To review the recent evidences of derangement of the metabolism of H
    Key scientific concepts of review: Mitochondria play a key role in the regulation of H
    Language English
    Publishing date 2020-04-07
    Publishing country Egypt
    Document type Journal Article ; Review
    ZDB-ID 2541849-X
    ISSN 2090-1224 ; 2090-1232
    ISSN (online) 2090-1224
    ISSN 2090-1232
    DOI 10.1016/j.jare.2020.04.002
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  4. Article ; Online: Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction

    Catarina M Quinzii / Luis C Lopez

    Journal of Advanced Research, Vol 27, Iss , Pp 79-

    2021  Volume 84

    Abstract: Background: Mitochondrial disorders are genetic diseases for which therapy remains woefully inadequate. Therapy of these disorders is particularly challenging partially due to the heterogeneity and tissue-specificity of pathomechanisms involved in these ... ...

    Abstract Background: Mitochondrial disorders are genetic diseases for which therapy remains woefully inadequate. Therapy of these disorders is particularly challenging partially due to the heterogeneity and tissue-specificity of pathomechanisms involved in these disorders. Abnormalities in hydrogen sulfide (H2S) metabolism are emerging as novel mechanism in mitochondrial dysfunction. However, further studies are necessary to understand the effects, protective or detrimental, of these abnormalities, and their relevance, in mitochondrial diseases. Aim of Review: To review the recent evidences of derangement of the metabolism of H2S, at biosynthesis or oxidation levels, in mitochondrial dysfunction, focusing specifically on the alterations of H2S oxidation caused by primary Coenzyme Q (CoQ) deficiency. Key Scientific Concepts of Review: Mitochondria play a key role in the regulation of H2S and GSH metabolism pathways. However, further studies are needed to understand the consequences of abnormalities of H2S and GSH synthesis on the oxidation pathway, and vice versa; and on the levels of H2S and GSH, their tissue-specific detrimental effects, and their role the role in mitochondrial diseases. Beside the known H2S pathways, additional, tissue-specific, enzymatic systems, involved in H2S production and elimination, might exist.
    Keywords Coenzyme Q ; Mitochondria ; ROS ; Oxidative stress ; Glutathione ; Medicine (General) ; R5-920 ; Science (General) ; Q1-390
    Subject code 610
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Coenzyme Q10 as a Peripheral Biomarker for Multiple System Atrophy.

    Kuo, Sheng-Han / Quinzii, Catarina M

    JAMA neurology

    2016  Volume 73, Issue 8, Page(s) 917–919

    MeSH term(s) Biomarkers ; Humans ; Multiple System Atrophy ; Ubiquinone/analogs & derivatives
    Chemical Substances Biomarkers ; Ubiquinone (1339-63-5) ; coenzyme Q10 (EJ27X76M46)
    Language English
    Publishing date 2016-07-01
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Comment
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2016.1810
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Emerging therapies for mitochondrial diseases.

    Hirano, Michio / Emmanuele, Valentina / Quinzii, Catarina M

    Essays in biochemistry

    2018  Volume 62, Issue 3, Page(s) 467–481

    Abstract: For the vast majority of patients with mitochondrial diseases, only supportive and symptomatic therapies are available. However, in the last decade, due to extraordinary advances in defining the causes and pathomechanisms of these diverse disorders, new ... ...

    Abstract For the vast majority of patients with mitochondrial diseases, only supportive and symptomatic therapies are available. However, in the last decade, due to extraordinary advances in defining the causes and pathomechanisms of these diverse disorders, new therapies are being developed in the laboratory and are entering human clinical trials. In this review, we highlight the current use of dietary supplement and exercise therapies as well as emerging therapies that may be broadly applicable across multiple mitochondrial diseases or tailored for specific disorders. Examples of non-tailored therapeutic targets include: activation of mitochondrial biogenesis, regulation of mitophagy and mitochondrial dynamics, bypass of biochemical defects, mitochondrial replacement therapy, and hypoxia. In contrast, tailored therapies are: scavenging of toxic compounds, deoxynucleoside and deoxynucleotide treatments, cell replacement therapies, gene therapy, shifting mitochondrial DNA mutation heteroplasmy, and stabilization of mutant mitochondrial transfer RNAs.
    MeSH term(s) Animals ; Cell Transplantation ; Clinical Trials as Topic ; DNA, Mitochondrial/genetics ; Dietary Supplements ; Exercise Therapy ; Free Radical Scavengers/therapeutic use ; Genetic Therapy ; Humans ; Hypoxia/metabolism ; Mitochondria/metabolism ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/therapy ; Mitochondrial Replacement Therapy ; Mutation ; Oxidative Phosphorylation ; RNA, Transfer/genetics
    Chemical Substances DNA, Mitochondrial ; Free Radical Scavengers ; RNA, Transfer (9014-25-9)
    Language English
    Publishing date 2018-07-20
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
    ISSN 1744-1358 ; 0071-1365
    ISSN (online) 1744-1358
    ISSN 0071-1365
    DOI 10.1042/EBC20170114
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Mutant CHCHD10 causes an extensive metabolic rewiring that precedes OXPHOS dysfunction in a murine model of mitochondrial cardiomyopathy.

    Sayles, Nicole M / Southwell, Nneka / McAvoy, Kevin / Kim, Kihwan / Pesini, Alba / Anderson, Corey J / Quinzii, Catarina / Cloonan, Suzanne / Kawamata, Hibiki / Manfredi, Giovanni

    Cell reports

    2022  Volume 38, Issue 10, Page(s) 110475

    Abstract: Mitochondrial cardiomyopathies are fatal diseases, with no effective treatment. Alterations of heart mitochondrial function activate the mitochondrial integrated stress response ( ... ...

    Abstract Mitochondrial cardiomyopathies are fatal diseases, with no effective treatment. Alterations of heart mitochondrial function activate the mitochondrial integrated stress response (ISR
    MeSH term(s) Animals ; Cardiomyopathies/pathology ; Disease Models, Animal ; Mice ; Mitochondria/metabolism ; Mitochondrial Diseases/metabolism ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism
    Chemical Substances Mitochondrial Proteins
    Language English
    Publishing date 2022-03-09
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2022.110475
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  8. Article: Cerebellar Ataxia and

    Quinzii, Catarina M / Hirano, Michio / Naini, Ali

    Journal of neurological disorders & stroke

    2014  Volume 1, Issue 1, Page(s) 1004

    Language English
    Publishing date 2014-07-13
    Publishing country United States
    Document type Journal Article
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Metabolic Targets of Coenzyme Q10 in Mitochondria.

    Hidalgo-Gutiérrez, Agustín / González-García, Pilar / Díaz-Casado, María Elena / Barriocanal-Casado, Eliana / López-Herrador, Sergio / Quinzii, Catarina M / López, Luis C

    Antioxidants (Basel, Switzerland)

    2021  Volume 10, Issue 4

    Abstract: Coenzyme Q10 ( ... ...

    Abstract Coenzyme Q10 (CoQ
    Language English
    Publishing date 2021-03-26
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2704216-9
    ISSN 2076-3921
    ISSN 2076-3921
    DOI 10.3390/antiox10040520
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  10. Article ; Online: Mutant COQ2 in multiple-system atrophy.

    Quinzii, Catarina M / Hirano, Michio / DiMauro, Salvatore

    The New England journal of medicine

    2014  Volume 371, Issue 1, Page(s) 81–82

    MeSH term(s) Alkyl and Aryl Transferases/genetics ; Female ; Humans ; Male ; Multiple System Atrophy/genetics
    Chemical Substances Alkyl and Aryl Transferases (EC 2.5.-)
    Language English
    Publishing date 2014-07-01
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc1311763
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.34: Show issues Location:
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