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  1. Article ; Online: Interplay between purinergic signalling and extracellular vesicles in health and disease.

    Carotti, Valentina / Rigalli, Juan P / van Asbeck-van der Wijst, Jenny / Hoenderop, Joost G J

    Biochemical pharmacology

    2022  Volume 203, Page(s) 115192

    Abstract: Purinergic signalling is a receptor-mediated process characterized by the binding of extracellular nucleotides and nucleosides to purinergic receptors, which results in the activation intracellular signalling pathways, and, ultimately, leads to changes ... ...

    Abstract Purinergic signalling is a receptor-mediated process characterized by the binding of extracellular nucleotides and nucleosides to purinergic receptors, which results in the activation intracellular signalling pathways, and, ultimately, leads to changes in cell physiology. Purinergic signalling has been related to the regulation of important physiological processes (e.g., renal electrolyte reabsorption; platelet aggregation; immune response). In addition, it has been associated with pathophysiological situations such as cancer and inflammation. Extracellular vesicles (EVs) are nanoparticles released by all cells of the organism, which play a key role in cell-cell communication. In this regard, EVs can mediate effects on target cells located at distant locations. Within their cargo, EVs contain molecules with the potential to affect purinergic signalling at the target cells and tissues. Here, we review the studies addressing the regulation of purinergic signalling by EVs based on the cell type or tissue where the regulation takes place. In this regard, EVs are found to play a major role in modulating the extracellular ATP levels and, specially, adenosine. This has a clear impact on, for instance, the inflammatory and immune response against cancer cells. Furthermore, we discuss the data available on the regulation of EV secretion and its cargo by purinergic signalling. Here, a major role of the purinergic receptor P2X7 and again, an impact on processes such as inflammation, immune response and cancer pathogenesis has been established. Finally, we highlight uninvestigated aspects of these two regulatory networks and address their potential as therapeutic targets.
    MeSH term(s) Cell Communication ; Extracellular Vesicles/metabolism ; Humans ; Inflammation/metabolism ; Neoplasms/metabolism ; Receptors, Purinergic/metabolism ; Signal Transduction/physiology
    Chemical Substances Receptors, Purinergic
    Language English
    Publishing date 2022-07-26
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 208787-x
    ISSN 1873-2968 ; 0006-2952
    ISSN (online) 1873-2968
    ISSN 0006-2952
    DOI 10.1016/j.bcp.2022.115192
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Title: Jealous protons sour another happy marriage; the story of how TRPV5 and PI(4,5)P

    van Goor, Mark K C / van der Wijst, Jenny / Hoenderop, Joost G J

    Cell calcium

    2022  Volume 105, Page(s) 102609

    Abstract: TRPV5 is a highly selective calcium channel that finetunes urinary calcium excretion by reabsorbing calcium from the pro-urine. New structural findings show how PTH and pH control TRPV5 activity by altering the binding of endogenous ligands calmodulin ... ...

    Abstract TRPV5 is a highly selective calcium channel that finetunes urinary calcium excretion by reabsorbing calcium from the pro-urine. New structural findings show how PTH and pH control TRPV5 activity by altering the binding of endogenous ligands calmodulin and phosphatidylinositol 4,5-bisphosphate (PI(4,5)P
    MeSH term(s) Calcium/metabolism ; Calcium Channels/metabolism ; Marriage ; Protons ; TRPV Cation Channels/metabolism
    Chemical Substances Calcium Channels ; Protons ; TRPV Cation Channels ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2022-05-31
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 757687-0
    ISSN 1532-1991 ; 0143-4160
    ISSN (online) 1532-1991
    ISSN 0143-4160
    DOI 10.1016/j.ceca.2022.102609
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?

    Martínez-Balsalobre, Elena / Guervilly, Jean-Hugues / van Asbeck-van der Wijst, Jenny / Pérez-Oliva, Ana Belén / Lachaud, Christophe

    Blood reviews

    2023  Volume 60, Page(s) 101094

    Abstract: Fanconi anemia (FA) is a rare inherited disorder that mainly affects the bone marrow. This condition causes decreased production of all types of blood cells. FA is caused by a defective repair of DNA interstrand crosslinks and to date, mutations in over ... ...

    Abstract Fanconi anemia (FA) is a rare inherited disorder that mainly affects the bone marrow. This condition causes decreased production of all types of blood cells. FA is caused by a defective repair of DNA interstrand crosslinks and to date, mutations in over 20 genes have been linked to the disease. Advances in science and molecular biology have provided new insight between FA gene mutations and the severity of clinical manifestations. Here, we will highlight the current and promising therapeutic options for this rare disease. The current standard treatment for FA patients is hematopoietic stem cell transplantation, a treatment associated to exposure to radiation or chemotherapy, immunological complications, plus opportunistic infections from prolonged immune incompetence or increased risk of morbidity. New arising treatments include gene addition therapy, genome editing using CRISPR-Cas9 nuclease, and hematopoietic stem cell generation from induced pluripotent stem cells. Finally, we will also discuss the revolutionary developments in mRNA therapeutics as an opportunity for this disease.
    MeSH term(s) Humans ; Fanconi Anemia/diagnosis ; Fanconi Anemia/genetics ; Fanconi Anemia/therapy ; Bone Marrow/metabolism ; Genetic Therapy ; Hematopoietic Stem Cells/metabolism ; DNA Damage
    Language English
    Publishing date 2023-04-28
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 639015-8
    ISSN 1532-1681 ; 0268-960X
    ISSN (online) 1532-1681
    ISSN 0268-960X
    DOI 10.1016/j.blre.2023.101094
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria.

    Guleray Lafci, Naz / van Goor, Mark / Cetinkaya, Semra / van der Wijst, Jenny / Acun, Melisa / Kurt Colak, Fatma / Cetinkaya, Arda / Hoenderop, Joost

    European journal of human genetics : EJHG

    2024  

    Abstract: Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic ... ...

    Abstract Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with idiopathic hypercalciuria. The proband additionally exhibited severe skeletal deformities and hyperparathyroidism. Whole-exome sequencing of the proband revealed a homozygous ultra-rare variant in TRPV5 (NM_019841.7:c.1792G>A; p.(Val598Met)), which encodes for a renal Ca
    Language English
    Publishing date 2024-03-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-024-01589-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Renal physiology: TRPC5 inhibition to treat progressive kidney disease.

    van der Wijst, Jenny / Bindels, René J M

    Nature reviews. Nephrology

    2018  Volume 14, Issue 3, Page(s) 145–146

    MeSH term(s) Animals ; Disease Models, Animal ; Glomerulosclerosis, Focal Segmental/drug therapy ; Glomerulosclerosis, Focal Segmental/genetics ; Hypertension, Renal/drug therapy ; Indazoles/pharmacology ; Mutation ; Podocytes/drug effects ; Proteinuria/drug therapy ; Rats ; Rats, Inbred Dahl ; Rats, Transgenic ; Small Molecule Libraries ; TRPC Cation Channels/antagonists & inhibitors ; TRPC Cation Channels/pharmacology ; rac1 GTP-Binding Protein/genetics
    Chemical Substances AC1903 ; Indazoles ; Small Molecule Libraries ; TRPC Cation Channels ; Trpc5 protein, rat ; Rac1 protein, rat (EC 3.6.1.-) ; rac1 GTP-Binding Protein (EC 3.6.5.2)
    Language English
    Publishing date 2018-01-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2490366-8
    ISSN 1759-507X ; 1759-5061
    ISSN (online) 1759-507X
    ISSN 1759-5061
    DOI 10.1038/nrneph.2018.4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: High-resolution structures of transient receptor potential vanilloid channels: Unveiling a functionally diverse group of ion channels.

    van Goor, Mark K / de Jager, Leanne / Cheng, Yifan / van der Wijst, Jenny

    Protein science : a publication of the Protein Society

    2020  Volume 29, Issue 7, Page(s) 1569–1580

    Abstract: Transient receptor potential vanilloid (TRPV) channels are part of the superfamily of TRP ion channels and play important roles in widespread physiological processes including both neuronal and non-neuronal pathways. Various diseases such as skeletal ... ...

    Abstract Transient receptor potential vanilloid (TRPV) channels are part of the superfamily of TRP ion channels and play important roles in widespread physiological processes including both neuronal and non-neuronal pathways. Various diseases such as skeletal abnormalities, chronic pain, and cancer are associated with dysfunction of a TRPV channel. In order to obtain full understanding of disease pathogenesis and create opportunities for therapeutic intervention, it is essential to unravel how these channels function at a molecular level. In the past decade, incredible progress has been made in biochemical sample preparation of large membrane proteins and structural biology techniques, including cryo-electron microscopy. This has resulted in high resolution structures of all TRPV channels, which has provided novel insights into the molecular mechanisms of channel gating and regulation that will be summarized in this review.
    MeSH term(s) Animals ; Cryoelectron Microscopy ; Humans ; Ion Channel Gating ; Protein Conformation ; Structure-Activity Relationship ; TRPV Cation Channels/chemistry ; TRPV Cation Channels/metabolism ; TRPV Cation Channels/ultrastructure
    Chemical Substances TRPV Cation Channels
    Language English
    Publishing date 2020-04-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1106283-6
    ISSN 1469-896X ; 0961-8368
    ISSN (online) 1469-896X
    ISSN 0961-8368
    DOI 10.1002/pro.3861
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Extracellular vesicles contribute to early cyst development in autosomal dominant polycystic kidney disease by cell-to-cell communication.

    Carotti, Valentina / van Megen, Wouter H / Rigalli, Juan P / Barros, Eric R / Sommers, Vera / Rutten, Luco / Sommerdijk, Nico / Peters, Dorien J M / van Asbeck-van der Wijst, Jenny / Hoenderop, Joost G J

    FASEB journal : official publication of the Federation of American Societies for Experimental Biology

    2023  Volume 37, Issue 7, Page(s) e23006

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of fluid-filled cysts within the kidney due to mutations in PKD1 or PKD2. Although the disease remains incompletely understood, one of the factors associated with ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of fluid-filled cysts within the kidney due to mutations in PKD1 or PKD2. Although the disease remains incompletely understood, one of the factors associated with ADPKD progression is the release of nucleotides (including ATP), which can initiate autocrine or paracrine purinergic signaling by binding to their receptors. Recently, we and others have shown that increased extracellular vesicle (EVs) release from PKD1 knockout cells can stimulate cyst growth through effects on recipient cells. Given that EVs are an important communicator between different nephron segments, we hypothesize that EVs released from PKD1 knockout distal convoluted tubule (DCT) cells can stimulate cyst growth in the downstream collecting duct (CD). Here, we show that administration of EVs derived from Pkd1
    MeSH term(s) Mice ; Animals ; Polycystic Kidney, Autosomal Dominant/genetics ; Polycystic Kidney, Autosomal Dominant/metabolism ; Kidney/metabolism ; Cell Communication ; Extracellular Vesicles/metabolism ; Adenosine Triphosphate/metabolism ; Cysts/metabolism ; TRPP Cation Channels/metabolism
    Chemical Substances Adenosine Triphosphate (8L70Q75FXE) ; TRPP Cation Channels
    Language English
    Publishing date 2023-07-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639186-2
    ISSN 1530-6860 ; 0892-6638
    ISSN (online) 1530-6860
    ISSN 0892-6638
    DOI 10.1096/fj.202300490R
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  8. Article ; Online: Fluid shear stress stimulates ATP release without regulating purinergic gene expression in the renal inner medullary collecting duct.

    van Megen, Wouter H / Canki, Esra / Wagenaar, Vera H A / van Waes, Charlotte R M M / Peters, Dorien J M / Van Asbeck-Van der Wijst, Jenny / Hoenderop, Joost G J

    FASEB journal : official publication of the Federation of American Societies for Experimental Biology

    2023  Volume 37, Issue 11, Page(s) e23232

    Abstract: In the kidney, the flow rate of the pro-urine through the renal tubules is highly variable. The tubular epithelial cells sense these variations in pro-urinary flow rate in order to regulate various physiological processes, including electrolyte ... ...

    Abstract In the kidney, the flow rate of the pro-urine through the renal tubules is highly variable. The tubular epithelial cells sense these variations in pro-urinary flow rate in order to regulate various physiological processes, including electrolyte reabsorption. One of the mechanosensitive pathways activated by flow is the release of ATP, which can then act as a autocrine or paracrine factor. Increased ATP release is observed in various kidney diseases, among others autosomal dominant polycystic kidney disease (ADPKD). However, the mechanisms underlying flow-induced ATP release in the collecting duct, especially in the inner medullary collecting duct, remain understudied. Using inner medullary collecting duct 3 (IMCD3) cells in a microfluidic setup, we show here that administration of a high flow rate for 1 min results in an increased ATP release compared to a lower flow rate. Although the ATP release channel pannexin-1 contributed to flow-induced ATP release in Pkd1
    MeSH term(s) Humans ; Polycystic Kidney, Autosomal Dominant/metabolism ; Kidney/metabolism ; Gene Expression ; Adenosine Triphosphate/metabolism ; Kidney Tubules, Collecting/metabolism
    Chemical Substances Adenosine Triphosphate (8L70Q75FXE)
    Language English
    Publishing date 2023-10-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639186-2
    ISSN 1530-6860 ; 0892-6638
    ISSN (online) 1530-6860
    ISSN 0892-6638
    DOI 10.1096/fj.202301434R
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Functional basis for calmodulation of the TRPV5 calcium channel.

    Zuidscherwoude, Malou / van Goor, Mark K / Roig, Sara R / Thijssen, Niky / van Erp, Merijn / Fransen, Jack / van der Wijst, Jenny / Hoenderop, Joost G

    The Journal of physiology

    2023  Volume 601, Issue 4, Page(s) 859–878

    Abstract: Within the transient receptor potential (TRP) superfamily of ion channels, TRPV5 is a highly ... ...

    Abstract Within the transient receptor potential (TRP) superfamily of ion channels, TRPV5 is a highly Ca
    MeSH term(s) Calcium/metabolism ; Calcium Channels/metabolism ; Calmodulin/metabolism ; Protein Binding ; TRPV Cation Channels/metabolism
    Chemical Substances Calcium (SY7Q814VUP) ; Calcium Channels ; Calmodulin ; TRPV Cation Channels
    Language English
    Publishing date 2023-01-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3115-x
    ISSN 1469-7793 ; 0022-3751
    ISSN (online) 1469-7793
    ISSN 0022-3751
    DOI 10.1113/JP282952
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Role of the alternative splice variant of NCC in blood pressure control.

    Wardak, Hila / Tutakhel, Omar A Z / Van Der Wijst, Jenny

    Channels (Austin, Tex.)

    2018  Volume 12, Issue 1, Page(s) 346–355

    Abstract: The renal thiazide-sensitive sodium-chloride cotransporter (NCC), located in the distal convoluted tubule (DCT) of the kidney, plays an important role in blood pressure regulation by fine-tuning sodium excretion. The human SLC12A3 gene, encoding NCC, ... ...

    Abstract The renal thiazide-sensitive sodium-chloride cotransporter (NCC), located in the distal convoluted tubule (DCT) of the kidney, plays an important role in blood pressure regulation by fine-tuning sodium excretion. The human SLC12A3 gene, encoding NCC, gives rise to three isoforms, of which only the third isoform (NCC
    MeSH term(s) Alternative Splicing/genetics ; Animals ; Blood Pressure/genetics ; Humans ; Kidney Tubules, Distal/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Solute Carrier Family 12, Member 3/genetics ; Solute Carrier Family 12, Member 3/metabolism
    Chemical Substances Protein Isoforms ; Solute Carrier Family 12, Member 3
    Language English
    Publishing date 2018-10-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2262854-X
    ISSN 1933-6969 ; 1933-6950
    ISSN (online) 1933-6969
    ISSN 1933-6950
    DOI 10.1080/19336950.2018.1528820
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