Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

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dc.contributor.authorChelban, Viorica
dc.contributor.authorAksnes, Henriette
dc.contributor.authorMaroofian, Reza
dc.contributor.authorLaMonica, LaurenC.
dc.contributor.authorSeabra, Luis
dc.contributor.authorSiggervåg, Anette
dc.contributor.authorDevic, Perrine
dc.contributor.authorİpek, Rojan
dc.date.accessioned2024-04-24T17:56:13Z
dc.date.available2024-04-24T17:56:13Z
dc.date.issued2024
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimlerien_US
dc.description.abstractPrimary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity. We show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro. In cells, loss of NAA60 caused reduced surface levels of SLC20A2 and a reduction in extracellular phosphate uptake. This study establishes NAA60 as a causal gene for PFBC, provides a possible biochemical explanation of its disease-causing mechanisms and underscores NAA60-mediated Nt-acetylation of transmembrane proteins as a fundamental process for healthy neurobiological functioning. © 2024. The Author(s).en_US
dc.identifier.citationChelban, V., Aksnes, H., Maroofian, R., LaMonica, L. C., Seabra, L., Siggervåg, A. ve diğerleri. (2024). Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature Communications, 15(1), 1-20.
dc.identifier.doi10.1038/s41467-024-46354-0
dc.identifier.issn2041-1723
dc.identifier.issue1en_US
dc.identifier.pmid38480682
dc.identifier.scopus2-s2.0-85187731525
dc.identifier.scopusqualityQ1
dc.identifier.startpage2269en_US
dc.identifier.urihttps://doi.org/10.1038/s41467-024-46354-0
dc.identifier.urihttps://hdl.handle.net/11468/23381
dc.identifier.volume15en_US
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.relation.ispartofNature communications
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleBiallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsen_US
dc.titleBiallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
dc.typeArticleen_US

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