1 Ocak 2021 Dergi makalesi Açık Erişim

Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibanez, Alvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi; Yis, Uluc; Sonmezler, Ece; Ekinci, Burcu; Aslan, Mahmut; Yilmaz, Elmasnur; Ozgor, Bilge; Balaraju, Sunitha; Szabo, Nora; Laurie, Steven; Beltran, Sergi; MacArthur, Daniel G.; Hathazi, Denisa; Topf, Ana; Topf, Ana

DataCite XML

<?xml version='1.0' encoding='utf-8'?>
<resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd">
  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/233492</identifier>
  <creators>
    <creator>
      <creatorName>Gungor, Serdal</creatorName>
      <givenName>Serdal</givenName>
      <familyName>Gungor</familyName>
      <affiliation>Inonu Univ, Fac Med, Turgut Ozal Res Ctr, Dept Paediat Neurol, Malatya, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Oktay, Yavuz</creatorName>
      <givenName>Yavuz</givenName>
      <familyName>Oktay</familyName>
    </creator>
    <creator>
      <creatorName>Hiz, Semra</creatorName>
      <givenName>Semra</givenName>
      <familyName>Hiz</familyName>
    </creator>
    <creator>
      <creatorName>Aranguren-Ibanez, Alvaro</creatorName>
      <givenName>Alvaro</givenName>
      <familyName>Aranguren-Ibanez</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat CRG, Dr Aiguader 88, Barcelona 08003, Spain</affiliation>
    </creator>
    <creator>
      <creatorName>Kalafatcilar, Ipek</creatorName>
      <givenName>Ipek</givenName>
      <familyName>Kalafatcilar</familyName>
    </creator>
    <creator>
      <creatorName>Yaramis, Ahmet</creatorName>
      <givenName>Ahmet</givenName>
      <familyName>Yaramis</familyName>
      <affiliation>Pediat Neurol Clin, Private Off, Diyarbakir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Karaca, Ezgi</creatorName>
      <givenName>Ezgi</givenName>
      <familyName>Karaca</familyName>
    </creator>
    <creator>
      <creatorName>Yis, Uluc</creatorName>
      <givenName>Uluc</givenName>
      <familyName>Yis</familyName>
      <affiliation>Dokuz Eylul Univ, Fac Med, Dept Pediat Neurol Izmir, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Sonmezler, Ece</creatorName>
      <givenName>Ece</givenName>
      <familyName>Sonmezler</familyName>
      <affiliation>Izmir Biomed &amp; Genome Ctr, Dokuz Eylul Univ Hlth Campus, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ekinci, Burcu</creatorName>
      <givenName>Burcu</givenName>
      <familyName>Ekinci</familyName>
      <affiliation>Izmir Biomed &amp; Genome Ctr, Dokuz Eylul Univ Hlth Campus, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Aslan, Mahmut</creatorName>
      <givenName>Mahmut</givenName>
      <familyName>Aslan</familyName>
      <affiliation>Dokuz Eylul Univ, Fac Med, Dept Pediat Neurol Izmir, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yilmaz, Elmasnur</creatorName>
      <givenName>Elmasnur</givenName>
      <familyName>Yilmaz</familyName>
      <affiliation>Izmir Biomed &amp; Genome Ctr, Dokuz Eylul Univ Hlth Campus, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ozgor, Bilge</creatorName>
      <givenName>Bilge</givenName>
      <familyName>Ozgor</familyName>
      <affiliation>Inonu Univ, Fac Med, Turgut Ozal Res Ctr, Dept Paediat Neurol, Malatya, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Balaraju, Sunitha</creatorName>
      <givenName>Sunitha</givenName>
      <familyName>Balaraju</familyName>
    </creator>
    <creator>
      <creatorName>Szabo, Nora</creatorName>
      <givenName>Nora</givenName>
      <familyName>Szabo</familyName>
    </creator>
    <creator>
      <creatorName>Laurie, Steven</creatorName>
      <givenName>Steven</givenName>
      <familyName>Laurie</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation>
    </creator>
    <creator>
      <creatorName>Beltran, Sergi</creatorName>
      <givenName>Sergi</givenName>
      <familyName>Beltran</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation>
    </creator>
    <creator>
      <creatorName>MacArthur, Daniel G.</creatorName>
      <givenName>Daniel G.</givenName>
      <familyName>MacArthur</familyName>
    </creator>
    <creator>
      <creatorName>Hathazi, Denisa</creatorName>
      <givenName>Denisa</givenName>
      <familyName>Hathazi</familyName>
      <affiliation>Univ Cambridge, John Van Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Sch Clin Med, Robinson Way, Cambridge CB2 0PY, England</affiliation>
    </creator>
    <creator>
      <creatorName>Topf, Ana</creatorName>
      <givenName>Ana</givenName>
      <familyName>Topf</familyName>
      <affiliation>Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Translat &amp; Clin Res, Newcastle Upon Tyne, Tyne &amp; Wear, England</affiliation>
    </creator>
    <creator>
      <creatorName>Topf, Ana</creatorName>
      <givenName>Ana</givenName>
      <familyName>Topf</familyName>
      <affiliation>Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Translat &amp; Clin Res, Newcastle Upon Tyne, Tyne &amp; Wear, England</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Autosomal Recessive Variants In Tubgcp2 Alter The Gamma-Tubulin Ring Complex Leading To Neurodevelopmental Disease</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2021</publicationYear>
  <dates>
    <date dateType="Issued">2021-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/233492</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.isci.2020.101948</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (gamma-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish familywith dysmorphic features, developmental delay, brain malformation, and epilepsy carrying a homozygous mutation (p.Glu311Lys) in TUBGCP2 encoding the gamma-tubulin complex 2 (GCP2) protein. This variant is predicted to disrupt the electrostatic interaction of GCP2 with GCP3. In primary fibroblasts carrying the variant, we observed a faint delocalization of gamma-tubulin during the cell cycle but normal GCP2 protein levels. Through mass spectrometry, we observed dysregulation of multiple proteins involved in the assembly and organization of the cytoskeleton and the extracellular matrix, controlling cellular adhesion and of proteins crucial for neuronal homeostasis including axon guidance. In summary, our functional and proteomic studies link TUBGCP2 and the gamma-tubulin complex to the development of the central nervous system in humans.</description>
  </descriptions>
</resource>