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Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

TWINKLE is the helicase involved in replication and maintenance of mitochondrial DNA (mtDNA) in mammalian cells. Structurally, TWINKLE is closely related to the bacteriophage T7 gp4 protein and comprises a helicase and primase domain joined by a flexible linker region. Mutations in and around this l...

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Detalles Bibliográficos
Autores principales: Peter, Bradley, Farge, Geraldine, Pardo-Hernandez, Carlos, Tångefjord, Stefan, Falkenberg, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423418/
https://www.ncbi.nlm.nih.gov/pubmed/30496414
http://dx.doi.org/10.1093/hmg/ddy415