Effects of the Jokela type of spinal muscular atrophy-relatedG66V mutation on the structural ensemble characteristics ofCHCHD10

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dc.authorid0000-0002-0772-9350
dc.contributor.authorAlıcı, Hakan
dc.contributor.authorUversky, Vladimir N.
dc.contributor.authorKang, David E.
dc.contributor.authorWoo, Junga Alexa
dc.contributor.authorCoşkuner Weber, Orkid
dc.date.accessioned2024-05-07T06:48:40Z
dc.date.available2024-05-07T06:48:40Z
dc.date.issued2023
dc.departmentTAÜ, Fen Fakültesi, Moleküler Biyoteknoloji Bölümüen_US
dc.description.abstractThe G66V pathological variant of the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 (CHCHD10), mitochondrial, plays a role in Jokela type spinalmuscular atrophy. The wild-type and G66V mutant-type CHCHD10 proteins containintrinsically disordered regions, and therefore, their structural ensemble studies havebeen experiencing difficulties using conventional tools. Here, we show our resultsregarding the first characterization of the structural ensemble characteristics of theG66V mutant form of CHCHD10 and the first comparison of these characteristicswith the structural ensemble properties of wild-type CHCHD10. We find that thestructural properties, potential of mean force surfaces, and principal component anal-ysis show stark differences between these two proteins. These results are importantfor a better pathology, biochemistry and structural biology understanding ofCHCHD10 and its G66V genetic variant and it is likely that these reported structuralproperties are important for designing more efficient treatments for the Jokela typeof spinal muscular atrophy disease.
dc.identifier.citationWoo J. A., Coskuner-Weber O., Kang, David E., Alıcı, H., Uversky, Vladimir N. (2023). Effects of the Jokela type ofspinal muscular atrophy-related G66V mutation on thestructural ensemble characteristics of CHCHD10.Proteins. Wiley, 91(6), 739?749.
dc.identifier.doi10.1002/prot.26463
dc.identifier.endpage749en_US
dc.identifier.issue6en_US
dc.identifier.scopus2-s2.0-85146338167
dc.identifier.startpage739en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12846/1223
dc.identifier.volume91en_US
dc.identifier.wosWOS:000915396500001
dc.indekslendigikaynakScopus
dc.language.isoen
dc.relation.ispartofWiley
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBioinformaticsen_US
dc.subjectCHCHD10en_US
dc.subjectG66Ven_US
dc.subjectGeneticsen_US
dc.subjectJokela type spinal muscular atrophyen_US
dc.subjectMultiple runmolecular dynamics simulationsen_US
dc.subjectStructural propertiesen_US
dc.titleEffects of the Jokela type of spinal muscular atrophy-relatedG66V mutation on the structural ensemble characteristics ofCHCHD10
dc.typeArticle

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