Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/6682
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dc.contributor.authorAypek, Hande-
dc.contributor.authorMeşe, Gülistan-
dc.date.accessioned2018-01-12T13:28:48Z-
dc.date.available2018-01-12T13:28:48Z-
dc.date.issued2017-04-
dc.identifier.citationAypek, H., and Meşe, G. (2017). Alteration of protein localization and intracellular calcium content due to connexin26 D50A and A88V mutations. Turkish Journal of Biochemistry, 42(2), 195-202. doi:10.1515/tjb-2016-0292en_US
dc.identifier.issn0250-4685-
dc.identifier.issn1303-829X-
dc.identifier.urihttp://doi.org/10.1515/tjb-2016-0292-
dc.identifier.urihttp://hdl.handle.net/11147/6682-
dc.description.abstractIntroduction: Connexins (Cx) play essential roles in cellular homeostasis by forming gap junctions and non-junctional hemichannels. In vitro characterization of Cx26 mutations causing keratitis-ichthyosis-deafness (KID) syndrome, were shown to form leaky hemichannels. The molecular/ cellular mechanisms affected by aberrant hemichannels have recently been elucidated. Here, we further wanted to characterize Cx26 KID syndrome mutations, D50A and A88V, which were shown to form aberrant hemichannels and remained unaddressed in the literature. Methods: Neurobiotin uptake assay in HeLa and N2A cells transfected with Cx26-WT, D50A or A88V verified the presence of aberrant hemichannels and immunofluorescent staining with fluorescent microscopy determined cellular localization of Cx26. Finally, intracellular calcium content was examined by using calcium indicator, Fluo-3AM, and flow cytometer. Results: Cx26-D50A and A88V mutations prevented the formation of gap junction plaques at cell-cell appositions and mutant proteins were observed to localize to the Golgi apparatus. Further, comparison of intracellular calcium content showed an increase in calcium amount in cells containing Cx26-D50A and A88V relative to Cx26-WT. Conclusion: Retention of Cx26 in the Golgi apparatus and alteration in the intracellular calcium content due to KID syndrome mutations may influence various cellular processes that might contribute to development of epidermal phenotypes.en_US
dc.description.abstractConnexin molekülleri (Cx) kurdukları hücrelerarası kanallar ve hücrelerarası olmayan yarı kanallar sayesinde hücre yaşamını dengelemede önemli roller üstlenirler. İn vitro analizlerle keratitis-ichthyosis-deafness (KID) sendromuyla ilişkili Cx26 mutasyonlarının düzgün kapanamayan yarı kanalların oluşmasına sebep oldukları gösterilmiştir. Bu tip anormal çalışan yarı kanalların etkilediği moleküler / hücresel mekanizmalar son zamanlarda araştırılmaya başlanmıştır. Bu çalışmada amacımız, daha önce yarı kanallar yaptıkları gösterilen Cx26’da oluşan KID sendromu mutasyonlarından D50A ve A88V’nin hücre biyolojisinde yaptığı değişiklikleri incelemektir. Yöntemler: Cx26-WT, D50Y ve A88V ile transfekte edilen HeLa ve N2A hücrelerinde neurobiotin boya alım deneyleriyle anormal yarı kanalların varlığı teyit edilmiş ve floresan mikroskop ve immunoboyamasıyla Cx26’nın hücre içi lokalizayonu belirlenmiştir. Son olarak, kalsiyum belirteci, Fluo-3AM ve akış sitometresi kullanarak hücre içi kalsiyum içeriği belirlenmiştir.en_US
dc.description.sponsorshipScientific and Technological Research Council of Turkey (210T035); FP7 Marie Curie Re-Integration (PIRG08-GA-2010-277101)en_US
dc.language.isoenen_US
dc.publisherTürk Biyokimya Derneğien_US
dc.relationinfo:eu-repo/grantAgreement/TUBITAK/TBAG/210T035en_US
dc.relationinfo:eu-repo/grantAgreement/EC/FP7/277101en_US
dc.relation.ispartofTurkish Journal of Biochemistryen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectConnexin26en_US
dc.subjectGolgi apparatusen_US
dc.subjectIntracellular calciumen_US
dc.subjectMutationen_US
dc.subjectKeratitis-ichthyosisdeafness (KID) syndromeen_US
dc.titleAlteration of protein localization and intracellular calcium content due to connexin26 D50A and A88V mutationsen_US
dc.title.alternativeD50A ve A88V mutasyonlarına bağlı connexin26 protein lokalizasyonunun ve hücre içi kalsiyum miktarının değişimien_US
dc.typeArticleen_US
dc.authoridTR109363en_US
dc.departmentIzmir Institute of Technology. Molecular Biology and Geneticsen_US
dc.identifier.volume42en_US
dc.identifier.issue2en_US
dc.identifier.startpage195en_US
dc.identifier.endpage202en_US
dc.identifier.wosWOS:000405114700010
dc.identifier.scopusSCOPUS:2-s2.0-85020440846
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.1515/tjb-2016-0292-
dc.relation.doi10.1515/tjb-2016-0292en_US
dc.coverage.doi10.1515/tjb-2016-0292en_US
item.fulltextWith Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeArticle-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.grantfulltextopen-
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
OpenAIRE Collection / OpenAIRE Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
TR Dizin İndeksli Yayınlar / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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