METAP1mutation is a novel candidate for autosomal recessive intellectual disability

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dc.authorid0000-0002-0760-5681en_US
dc.contributor.authorÇağlayan, Ahmet Okay
dc.contributor.authorAktar, Fesih
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorBaranoski, Jacob F.
dc.contributor.authorAkgümüş, Gözde Tuğçe
dc.contributor.authorHarmancı, Akdes Serin
dc.contributor.authorErson-Omay, Emine Zeynep
dc.contributor.authorYasuno, Katsuhito
dc.contributor.authorÇaksen, Hüseyin
dc.contributor.authorGünel, Murat
dc.date.accessioned2021-09-07T09:55:37Z
dc.date.available2021-09-07T09:55:37Z
dc.date.issued2021en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.descriptionWOS:000556668300001
dc.descriptionPubMed ID32764695
dc.description.abstractIntellectual disability (ID) is a genetic and clinically heterogenous common disease and underlying molecular pathogenesis can frequently not be identified by whole- exome/genome testing. Here, we report 4 siblings born to a consanguineous union who presented with intellectual disability and discuss the METAP1 pathway as a novel etiology of ID. Genomic analyses demonstrated that patients harbor a novel homozygous nonsense mutation in the gene METAP1. METAP1 codes for methionine aminopeptidase 1 (MetAP1) which oversees the co-translational excision of the first methionine remnants in eukaryotes. Loss of function mutations to this gene may result in a defect in the translation of many essential proteins within a cell. Improper neuronal function resulting from this loss of essential proteins could lead to neurologic impairment and ID.en_US
dc.identifier.citationCaglayan, A.O., Aktar, F., Bilguvar, K., Baranoski, J.F., Akgümüş, G.T., Harmanci, A.S. ve diğerleri. (2021). METAP1mutation is a novel candidate for autosomal recessive intellectual disability. Journal of Human Genetics, 66(2), 215-218.en_US
dc.identifier.doi10.1038/s10038-020-0820-0en_US
dc.identifier.endpage218en_US
dc.identifier.issn1434-5161
dc.identifier.issn1435-232X
dc.identifier.issue2en_US
dc.identifier.pmid32764695en_US
dc.identifier.scopus2-s2.0-85089073159en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage215en_US
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785574/pdf/nihms-1615319.pdf
dc.identifier.urihttps://hdl.handle.net/11468/7464
dc.identifier.volume66en_US
dc.identifier.wosWOS:000556668300001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAktar, Fesih
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.ispartofJournal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMETAP1mutationen_US
dc.subjectAutosomal recessiveen_US
dc.titleMETAP1mutation is a novel candidate for autosomal recessive intellectual disabilityen_US
dc.typeArticleen_US

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