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Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome

TOP1MT encodes a mitochondrial topoisomerase that is important for mtDNA regulation and is involved in mitochondrial replication, transcription, and translation. Two variants predicted to affect TOP1MT function (V1 - R198C and V2 - V338L) were identified by exome sequencing of a newborn with hypertr...

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Detalles Bibliográficos
Autores principales:	Al Khatib, Iman, Deng, Jingti, Symes, Andrew, Kerr, Marina, Zhang, Hongliang, Huang, Shar-yin Naomi, Pommier, Yves, Khan, Aneal, Shutt, Timothy E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513266/ https://www.ncbi.nlm.nih.gov/pubmed/36030054 http://dx.doi.org/10.1016/j.jbc.2022.102420

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