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dc.contributor.authorGÖNCÜ, BEYZA SERVET
dc.contributor.authorYEŞİL SAYIN, Gözde
dc.contributor.authorYÜCESAN, EMRAH
dc.contributor.authorÖZGÜL, Cemil
dc.contributor.authorAkyuz, Enes
dc.contributor.authorAslanger, Ayca Dilruba
dc.contributor.authorKebapci, Arda
dc.date.accessioned2023-10-10T11:39:48Z
dc.date.available2023-10-10T11:39:48Z
dc.identifier.citationYÜCESAN E., GÖNCÜ B. S., ÖZGÜL C., Kebapci A., Aslanger A. D., Akyuz E., YEŞİL SAYIN G., "Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy", International Journal of Neuroscience, 2023
dc.identifier.issn0020-7454
dc.identifier.otherav_17a16e93-8281-4a06-b423-1bd18616be62
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/189824
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85161474518&origin=inward
dc.identifier.urihttps://doi.org/10.1080/00207454.2023.2221814
dc.description.abstractKCNMA1 located on chromosome 10q22.3, encodes the pore-forming α subunit of the ‘Big K+’ (BK) large conductance calcium and voltage-activated K + channel. Numerous evidence suggests the functional BK channel alterations produced by different KCNMA1 alleles may associate with different symptoms, such as paroxysmal non kinesigenic dyskinesia with gain of function and ataxia with loss of function. Functional classifications revealed two major patterns, gain of function and loss of function effects on channel properties in different cell lines. In the literature, two mutations have been shown to confer gain of function properties to BK channels: D434G and N995S. In this study, we report the functional characterization of a variant which was previously reported the whole exome sequencing revealed bi-allelic nonsense variation of the cytoplasmic domain of calcium-activated potassium channel subunit alpha-1 protein. To detect functional consequences of the variation, we parallely conducted two independent approaches. One is immunostaining using and the other one is electrophysiological recording using patch-clamp on wild-type and R458X mutant cells to detect the differences between wild-type and the mutant cells. We detected the gain of function effect for the mutation (NM_001161352.1 (ENST00000286628.8):c.1372C > T;Arg458*) using two parallel approaches. According to the result we found, the reported mutation causes the loss of function in the cell. It should be noted that in future studies, it can be thought that the functions of genes associated with channelopathies may have a dual effect such as loss and gain.
dc.language.isoeng
dc.subjectTemel Bilimler
dc.subjectGenel Sinirbilim
dc.subjectYaşam Bilimleri
dc.subjectSİNİR BİLİMİ
dc.subjectSinirbilim ve Davranış
dc.subjectYaşam Bilimleri (LIFE)
dc.titleFunctional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy
dc.typeMakale
dc.relation.journalInternational Journal of Neuroscience
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , Nörolojik Bilimler Enstitüsü , Sinirbilimi Anabilim Dalı
dc.contributor.firstauthorID4288772


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