1 Ocak 2024 Dergi makalesi Açık Erişim

Baysal, Ipek; Yabanoglu-Ciftci, Samiye; Nemutlu, Emirhan; Eylem, Cemil Can; Gok-Topak, Elif Damla Go; Ulubayram, Kezban; Kir, Sedef; Gulhan, Bora; Ucar, Gulberk; Ozaltin, Fatih; Topaloglu, Rezan

MARC21 XML

<?xml version='1.0' encoding='UTF-8'?>
<record xmlns="http://www.loc.gov/MARC21/slim">
  <leader>00000nam##2200000uu#4500</leader>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Yabanoglu-Ciftci, Samiye</subfield>
    <subfield code="u">Hacettepe Univ, Fac Pharm, Dept Biochem, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Nemutlu, Emirhan</subfield>
    <subfield code="u">Hacettepe Univ, Fac Pharm, Dept Analyt Chem, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Eylem, Cemil Can</subfield>
    <subfield code="u">Hacettepe Univ, Fac Pharm, Dept Analyt Chem, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Gok-Topak, Elif Damla Go</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ulubayram, Kezban</subfield>
    <subfield code="u">Hacettepe Univ, Fac Pharm, Dept Basic Pharmaceut Sci, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Kir, Sedef</subfield>
    <subfield code="u">Hacettepe Univ, Sch Med, Dept Pediat Nephrol, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Gulhan, Bora</subfield>
    <subfield code="u">Hacettepe Univ, Sch Med, Dept Pediat Nephrol, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ucar, Gulberk</subfield>
    <subfield code="u">Hacettepe Univ, Sch Med, Dept Pediat Nephrol, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ozaltin, Fatih</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Topaloglu, Rezan</subfield>
    <subfield code="u">Hacettepe Univ, Sch Med, Dept Pediat Nephrol, Sihhiye, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="4">
    <subfield code="p">LABORATORY INVESTIGATION</subfield>
    <subfield code="v">104</subfield>
    <subfield code="n">1</subfield>
    <subfield code="c">7</subfield>
  </datafield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="540" ind1=" " ind2=" ">
    <subfield code="a">Creative Commons Attribution</subfield>
    <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield>
  </datafield>
  <datafield tag="024" ind1=" " ind2=" ">
    <subfield code="a">10.1016/j.labinv.2023.100287</subfield>
    <subfield code="2">doi</subfield>
  </datafield>
  <datafield tag="245" ind1=" " ind2=" ">
    <subfield code="a">Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells</subfield>
  </datafield>
  <datafield tag="100" ind1=" " ind2=" ">
    <subfield code="a">Baysal, Ipek</subfield>
    <subfield code="u">Vocat Sch Hlth Serv, Pharm Serv Programme, Ankara, Turkiye</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="O">
    <subfield code="o">oai:aperta.ulakbim.gov.tr:273464</subfield>
    <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="650" ind1="1" ind2="7">
    <subfield code="2">opendefinition.org</subfield>
    <subfield code="a">cc-by</subfield>
  </datafield>
  <datafield tag="260" ind1=" " ind2=" ">
    <subfield code="c">2024-01-01</subfield>
  </datafield>
  <datafield tag="856" ind1="4" ind2=" ">
    <subfield code="u">https://aperta.ulakbim.gov.trrecord/273464/files/bib-977f6690-006b-480b-8f38-2842d92cefb5.txt</subfield>
    <subfield code="z">md5:f0713175abaa87e671f6e518c084fce9</subfield>
    <subfield code="s">292</subfield>
  </datafield>
  <datafield tag="542" ind1=" " ind2=" ">
    <subfield code="l">open</subfield>
  </datafield>
  <controlfield tag="005">20240608065803.0</controlfield>
  <controlfield tag="001">273464</controlfield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">publication</subfield>
    <subfield code="b">article</subfield>
  </datafield>
  <datafield tag="520" ind1=" " ind2=" ">
    <subfield code="a">&lt;p&gt;Cystinosis is an autosomal recessive disease caused by mutations in the CTNS gene encoding a protein called cystinosine, which is a lysosomal cystine transporter. Disease-causing mutations lead to accumulation of cystine crystals in the lysosomes, thereby causing dysfunction of vital organs. Determination of the increased leukocyte cystine level is one of the most used methods for diagnosis. However, this method is expensive, difficult to perform, and may yield different results in different laboratories. In this study, a disease model was created with CTNS gene-silenced HK2 cells, which can mimic cystinosis in cell culture, and multiomics methods (ie, proteomics, metabolomics, and fluxomics) were implemented at this cell culture to investigate new biomarkers for the diagnosis. CTNS-silenced cell line exhibited distinct metabolic profiles compared with the control cell line. Pathway analysis highlighted significant alterations in various metabolic pathways, including alanine, aspartate, and glutamate metabolism; glutathione metabolism; aminoacyl-tRNA biosynthesis; arginine and proline metabolism; beta-alanine metabolism; ascorbate and aldarate metabolism; and histidine metabolism upon CTNS silencing. Fluxomics analysis revealed increased cycle rates of Krebs cycle intermediates such as fumarate, malate, and citrate, accompanied by enhanced activation of inorganic phosphate and ATP production. Furthermore, proteomic analysis unveiled differential expression levels of key proteins involved in crucial cellular processes. Notably, peptidyl-prolyl cisetrans isomerase A, translation elongation factor 1-beta (EF-1beta), and 60S acidic ribosomal protein decreased in CTNS-silenced cells. Additionally, levels of P0 and tubulin a-1A chain were reduced, whereas levels of 40S ribosomal protein S8 and Midasin increased. Overall, our study, through the utilization of an in vitro cystinosis model and comprehensive multiomics approach, led to the way toward the identification of potential new biomarkers while offering valuable insights into the pathogenesis of cystinosis. (c) 2023 United States &amp;amp; Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.&lt;/p&gt;</subfield>
  </datafield>
</record>