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Structural insight and characterization of human Twinkle helicase in mitochondrial disease

Twinkle is the mammalian helicase vital for replication and integrity of mitochondrial DNA. Over 90 Twinkle helicase disease variants have been linked to progressive external ophthalmoplegia and ataxia neuropathies among other mitochondrial diseases. Despite the biological and clinical importance, T...

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Detalles Bibliográficos
Autores principales: Riccio, Amanda A., Bouvette, Jonathan, Perera, Lalith, Longley, Matthew J., Krahn, Juno M., Williams, Jason G., Dutcher, Robert, Borgnia, Mario J., Copeland, William C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9371709/
https://www.ncbi.nlm.nih.gov/pubmed/35914129
http://dx.doi.org/10.1073/pnas.2207459119