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  1. Article ; Online: Disorders of fatty acid homeostasis.

    Vaz, Frédéric M / Ferdinandusse, Sacha / Salomons, Gajja S / Wanders, Ronald J A

    Journal of inherited metabolic disease

    2024  

    Abstract: Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl-CoA, although some FA are solely derived from exogenous sources ("essential FA"). Once inside cells, FA may undergo a wide variety of different ... ...

    Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl-CoA, although some FA are solely derived from exogenous sources ("essential FA"). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of double bonds, the 2- and ω-hydroxylation and chain elongation, thereby generating a cellular FA pool which can be used for the synthesis of more complex lipids. The biological properties of complex lipids are very much determined by their molecular composition in terms of the FA incorporated into these lipid species. This immediately explains the existence of a range of genetic diseases in man, often with severe clinical consequences caused by variants in one of the many genes coding for enzymes responsible for these FA modifications. It is the purpose of this review to describe the current state of knowledge about FA homeostasis and the genetic diseases involved. This includes the disorders of FA activation, desaturation, 2- and ω-hydroxylation, and chain elongation, but also the disorders of FA breakdown, including disorders of peroxisomal and mitochondrial α- and β-oxidation.
    Language English
    Publishing date 2024-05-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12734
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment.

    Wanders, Ronald J A

    Molecular and cellular probes

    2018  Volume 40, Page(s) 60–69

    Abstract: Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans ...

    Abstract Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans is exemplified by the existence of a group of peroxisomal disorders, caused by mutations in > 30 different genes which code for proteins with a role in either peroxisome biogenesis or one of the metabolic pathways in peroxisomes. Technological advances in laboratory methods at the metabolite-, enzyme-, and molecular level have not only allowed the identification of new peroxisomal disorders but also new phenotypes associated with already identified genetic defects thus extending the clinical spectrum. Unfortunately, progress in the field of pathogenesis and treatment has lagged behind although there are certainly new and hopeful developments with respect to X-linked adrenoleukodystrophy and hyperoxaluria type 1.
    MeSH term(s) Biomarkers/metabolism ; Humans ; Models, Biological ; Organelle Biogenesis ; Peroxisomal Disorders/diagnosis ; Peroxisomal Disorders/therapy
    Chemical Substances Biomarkers
    Language English
    Publishing date 2018-02-10
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 639082-1
    ISSN 1096-1194 ; 0890-8508
    ISSN (online) 1096-1194
    ISSN 0890-8508
    DOI 10.1016/j.mcp.2018.02.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Barth syndrome and the many fascinating aspects of cardiolipin.

    Vaz, Frédéric M / Wanders, Ronald J A / Vernon, Hilary

    Journal of inherited metabolic disease

    2021  Volume 45, Issue 1, Page(s) 1–2

    MeSH term(s) Acyltransferases/genetics ; Barth Syndrome/genetics ; Barth Syndrome/metabolism ; Cardiolipins/metabolism ; Humans
    Chemical Substances Cardiolipins ; Acyltransferases (EC 2.3.-) ; TAFAZZIN protein, human (EC 2.3.1.-)
    Language English
    Publishing date 2021-12-14
    Publishing country United States
    Document type Editorial
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12460
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  4. Article ; Online: Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment-specific detoxification of glyoxylate.

    Garrelfs, Sander F / Chornyi, Serhii / Te Brinke, Heleen / Ruiter, Jos / Groothoff, Jaap / Wanders, Ronald J A

    Journal of inherited metabolic disease

    2024  Volume 47, Issue 2, Page(s) 280–288

    Abstract: Glyoxylate is a key metabolite generated from various precursor substrates in different subcellular compartments including mitochondria, peroxisomes, and the cytosol. The fact that glyoxylate is a good substrate for the ubiquitously expressed enzyme ... ...

    Abstract Glyoxylate is a key metabolite generated from various precursor substrates in different subcellular compartments including mitochondria, peroxisomes, and the cytosol. The fact that glyoxylate is a good substrate for the ubiquitously expressed enzyme lactate dehydrogenase (LDH) requires the presence of efficient glyoxylate detoxification systems to avoid the formation of oxalate. Furthermore, this detoxification needs to be compartment-specific since LDH is actively present in multiple subcellular compartments including peroxisomes, mitochondria, and the cytosol. Whereas the identity of these protection systems has been established for both peroxisomes and the cytosol as concluded from the deficiency of alanine glyoxylate aminotransferase (AGT) in primary hyperoxaluria type 1 (PH1) and glyoxylate reductase (GR) in PH2, the glyoxylate protection system in mitochondria has remained less well defined. In this manuscript, we show that the enzyme glyoxylate reductase has a bimodal distribution in human embryonic kidney (HEK293), hepatocellular carcinoma (HepG2), and cervical carcinoma (HeLa) cells and more importantly, in human liver, and is actively present in both the mitochondrial and cytosolic compartments. We conclude that the metabolism of glyoxylate in humans requires the complicated interaction between different subcellular compartments within the cell and discuss the implications for the different primary hyperoxalurias.
    MeSH term(s) Humans ; Mitochondria, Liver/metabolism ; HEK293 Cells ; Transaminases ; Oxalates/metabolism ; Liver/metabolism ; Glyoxylates/metabolism ; Alcohol Oxidoreductases
    Chemical Substances glyoxylate reductase (EC 1.1.1.26) ; Transaminases (EC 2.6.1.-) ; Oxalates ; Glyoxylates ; Alcohol Oxidoreductases (EC 1.1.-)
    Language English
    Publishing date 2024-01-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12711
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  5. Article: Editorial: Mitochondrial Disorders: Biochemical and Molecular Basis of Disease.

    Leipnitz, Guilhian / Hatch, Grant M / Mohsen, Al-Walid / Wanders, Ronald J A

    Frontiers in genetics

    2021  Volume 12, Page(s) 769770

    Language English
    Publishing date 2021-11-19
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2021.769770
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  6. Article: Fatty Acid Oxidation in Peroxisomes: Enzymology, Metabolic Crosstalk with Other Organelles and Peroxisomal Disorders.

    Wanders, Ronald J A / Vaz, Frédéric M / Waterham, Hans R / Ferdinandusse, Sacha

    Advances in experimental medicine and biology

    2021  Volume 1299, Page(s) 55–70

    Abstract: Peroxisomes play a central role in metabolism as exemplified by the fact that many genetic disorders in humans have been identified through the years in which there is an impairment in one or more of these peroxisomal functions, in most cases associated ... ...

    Abstract Peroxisomes play a central role in metabolism as exemplified by the fact that many genetic disorders in humans have been identified through the years in which there is an impairment in one or more of these peroxisomal functions, in most cases associated with severe clinical signs and symptoms. One of the key functions of peroxisomes is the β-oxidation of fatty acids which differs from the oxidation of fatty acids in mitochondria in many respects which includes the different substrate specificities of the two organelles. Whereas mitochondria are the main site of oxidation of medium-and long-chain fatty acids, peroxisomes catalyse the β-oxidation of a distinct set of fatty acids, including very-long-chain fatty acids, pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic acid. Peroxisomes require the functional alliance with multiple subcellular organelles to fulfil their role in metabolism. Indeed, peroxisomes require the functional interaction with lysosomes, lipid droplets and the endoplasmic reticulum, since these organelles provide the substrates oxidized in peroxisomes. On the other hand, since peroxisomes lack a citric acid cycle as well as respiratory chain, oxidation of the end-products of peroxisomal fatty acid oxidation notably acetyl-CoA, and different medium-chain acyl-CoAs, to CO
    MeSH term(s) Fatty Acids/metabolism ; Humans ; Lipid Metabolism ; Oxidation-Reduction ; Peroxisomal Disorders/enzymology ; Peroxisomal Disorders/metabolism ; Peroxisomes/enzymology ; Peroxisomes/metabolism
    Chemical Substances Fatty Acids
    Language English
    Publishing date 2021-01-08
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-3-030-60204-8_5
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  7. Article: Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters.

    van Roermund, Carlo W T / IJlst, Lodewijk / Linka, Nicole / Wanders, Ronald J A / Waterham, Hans R

    Frontiers in cell and developmental biology

    2022  Volume 9, Page(s) 788921

    Abstract: Peroxisomes are essential organelles involved in various metabolic processes, including fatty acid β-oxidation. Their metabolic functions require a controlled exchange of metabolites and co-factors, including ATP, across the peroxisomal membrane. We ... ...

    Abstract Peroxisomes are essential organelles involved in various metabolic processes, including fatty acid β-oxidation. Their metabolic functions require a controlled exchange of metabolites and co-factors, including ATP, across the peroxisomal membrane. We investigated which proteins are involved in the peroxisomal uptake of ATP in the yeast
    Language English
    Publishing date 2022-01-19
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2737824-X
    ISSN 2296-634X
    ISSN 2296-634X
    DOI 10.3389/fcell.2021.788921
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  8. Article ; Online: The physiological functions of human peroxisomes.

    Wanders, Ronald J A / Baes, Myriam / Ribeiro, Daniela / Ferdinandusse, Sacha / Waterham, Hans R

    Physiological reviews

    2022  Volume 103, Issue 1, Page(s) 957–1024

    Abstract: Peroxisomes are subcellular organelles that play a central role in human physiology by catalyzing a range of unique metabolic functions. The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases ... ...

    Abstract Peroxisomes are subcellular organelles that play a central role in human physiology by catalyzing a range of unique metabolic functions. The importance of peroxisomes for human health is exemplified by the existence of a group of usually severe diseases caused by an impairment in one or more peroxisomal functions. Among others these include the Zellweger spectrum disorders, X-linked adrenoleukodystrophy, and Refsum disease. To fulfill their role in metabolism, peroxisomes require continued interaction with other subcellular organelles including lipid droplets, lysosomes, the endoplasmic reticulum, and mitochondria. In recent years it has become clear that the metabolic alliance between peroxisomes and other organelles requires the active participation of tethering proteins to bring the organelles physically closer together, thereby achieving efficient transfer of metabolites. This review intends to describe the current state of knowledge about the metabolic role of peroxisomes in humans, with particular emphasis on the metabolic partnership between peroxisomes and other organelles and the consequences of genetic defects in these processes. We also describe the biogenesis of peroxisomes and the consequences of the multiple genetic defects therein. In addition, we discuss the functional role of peroxisomes in different organs and tissues and include relevant information derived from model systems, notably peroxisomal mouse models. Finally, we pay particular attention to a hitherto underrated role of peroxisomes in viral infections.
    MeSH term(s) Animals ; Mice ; Humans ; Social Group
    Language English
    Publishing date 2022-08-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 209902-0
    ISSN 1522-1210 ; 0031-9333
    ISSN (online) 1522-1210
    ISSN 0031-9333
    DOI 10.1152/physrev.00051.2021
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  9. Article ; Online: Human peroxisomal NAD

    Chornyi, Serhii / Costa, Cláudio F / IJlst, Lodewijk / Fransen, Marc / Wanders, Ronald J A / van Roermund, Carlo W T / Waterham, Hans R

    Free radical biology & medicine

    2023  Volume 206, Page(s) 22–32

    Abstract: Reduced (NADH) and oxidized ( ... ...

    Abstract Reduced (NADH) and oxidized (NAD
    MeSH term(s) Humans ; NAD/metabolism ; Codon, Terminator/metabolism ; Peroxisomes/metabolism ; Protein Biosynthesis ; Oxidation-Reduction ; Homeostasis
    Chemical Substances NAD (0U46U6E8UK) ; Codon, Terminator
    Language English
    Publishing date 2023-06-22
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 807032-5
    ISSN 1873-4596 ; 0891-5849
    ISSN (online) 1873-4596
    ISSN 0891-5849
    DOI 10.1016/j.freeradbiomed.2023.06.020
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  10. Article ; Online: Metabolic functions of peroxisomes in health and disease.

    Wanders, Ronald J A

    Biochimie

    2014  Volume 98, Page(s) 36–44

    Abstract: Peroxisomes are subcellular organelles which are present in virtually every eukaryotic cell and catalyze a large number of metabolic functions. The importance of peroxisomes for humans is stressed by the existence of a large group of genetic diseases in ... ...

    Abstract Peroxisomes are subcellular organelles which are present in virtually every eukaryotic cell and catalyze a large number of metabolic functions. The importance of peroxisomes for humans is stressed by the existence of a large group of genetic diseases in which either the biogenesis of peroxisomes is impaired or one of its metabolic functions. Thanks to the work on Zellweger syndrome which is the prototype of the group of peroxisomal disorders, much has been learned about the metabolism and biogenesis of peroxisomes in humans. These metabolic functions include: (1.) fatty acid beta-oxidation; (2.) etherphospholipid biosynthesis; (3.) fatty acid alpha-oxidation, and (4.) glyoxylate detoxification. Since peroxisomes lack a citric acid cycle and a respiratory chain, peroxisomes are relatively helpless organelles which rely heavily on their cross-talk with other subcellular organelles in order to metabolize the end products of metabolism as generated in peroxisomes. The metabolic functions of peroxisomes in humans will be briefly described in this review with emphasis on the cross-talk with other subcellular organelles as well as the peroxisomal disorders in which one or more peroxisomal functions are impaired.
    MeSH term(s) Endoplasmic Reticulum/metabolism ; Fatty Acids/metabolism ; Glyoxylates/metabolism ; Humans ; Mitochondria/metabolism ; Oxidation-Reduction ; Peroxisomal Disorders/physiopathology ; Peroxisomes/metabolism ; Plasmalogens/biosynthesis
    Chemical Substances Fatty Acids ; Glyoxylates ; Plasmalogens ; glyoxylic acid (JQ39C92HH6)
    Language English
    Publishing date 2014-03
    Publishing country France
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 120345-9
    ISSN 1638-6183 ; 0300-9084
    ISSN (online) 1638-6183
    ISSN 0300-9084
    DOI 10.1016/j.biochi.2013.08.022
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